| Year |
Citation |
Score |
| 2024 |
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, et al. Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome. Scientific Reports. 14: 2330. PMID 38282012 DOI: 10.1038/s41598-024-52691-3 |
0.493 |
|
| 2023 |
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, et al. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101059. PMID 38158857 DOI: 10.1016/j.gim.2023.101059 |
0.56 |
|
| 2023 |
Bourgon N, Chen R, Grangé G, Grotto S, Molac C, Loeuillet L, Attié-Bitach T. Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype. Prenatal Diagnosis. PMID 37964427 DOI: 10.1002/pd.6463 |
0.36 |
|
| 2023 |
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, et al. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101007. PMID 37860968 DOI: 10.1016/j.gim.2023.101007 |
0.491 |
|
| 2023 |
Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, et al. Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. Journal of Medical Genetics. PMID 37857482 DOI: 10.1136/jmg-2023-109293 |
0.338 |
|
| 2023 |
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, et al. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes. Frontiers in Pediatrics. 11: 1171277. PMID 37664547 DOI: 10.3389/fped.2023.1171277 |
0.501 |
|
| 2023 |
Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T. Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs. Molecular Genetics & Genomic Medicine. e2219. PMID 37353886 DOI: 10.1002/mgg3.2219 |
0.415 |
|
| 2023 |
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, et al. First reports of fetal SMARCC1 related hydrocephalus. European Journal of Medical Genetics. 66: 104797. PMID 37285932 DOI: 10.1016/j.ejmg.2023.104797 |
0.31 |
|
| 2023 |
Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, Richard P. Morphological and genetic causes of fetal cardiomyopathies. Clinical Genetics. PMID 37209000 DOI: 10.1111/cge.14333 |
0.33 |
|
| 2023 |
Aubert-Mucca M, Janel C, Porquet-Bordes V, Patat O, Touraine R, Edouard T, Michot C, Tessier A, Cormier-Daire V, Attie-Bitach T, Baujat G. Clinical heterogeneity of NADSYN1-associated VCRL syndrome. Clinical Genetics. PMID 36951206 DOI: 10.1111/cge.14328 |
0.319 |
|
| 2023 |
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, et al. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 120: e2102569120. PMID 36802443 DOI: 10.1073/pnas.2102569120 |
0.446 |
|
| 2023 |
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 25: 100004. PMID 36745127 DOI: 10.1016/j.gim.2022.100004 |
0.329 |
|
| 2022 |
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, et al. Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Birth Defects Research. PMID 36538874 DOI: 10.1002/bdr2.2141 |
0.358 |
|
| 2022 |
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, et al. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. American Journal of Medical Genetics. Part A. PMID 36271508 DOI: 10.1002/ajmg.a.62989 |
0.549 |
|
| 2022 |
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T, Cormier-Daire V. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of Medical Genetics. PMID 35927022 DOI: 10.1136/jmg-2022-108435 |
0.392 |
|
| 2022 |
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, et al. Bi-allelic variants in disrupt the development of multiple organs in humans. Journal of Medical Genetics. PMID 35790350 DOI: 10.1136/jmedgenet-2022-108475 |
0.361 |
|
| 2022 |
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35579625 DOI: 10.1016/j.gim.2022.04.010 |
0.368 |
|
| 2022 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 15: 871557. PMID 35571366 DOI: 10.3389/fnmol.2022.871557 |
0.388 |
|
| 2022 |
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Birth Defects Research. PMID 35426486 DOI: 10.1002/bdr2.2011 |
0.574 |
|
| 2022 |
Lamouroux A, Dauge C, Wells C, Mousty E, Pinson L, Cavé H, Capri Y, Faure JM, Grosjean F, Sauvestre F, Attié-Bitach T, Pelluard F, Geneviève D. Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data. Prenatal Diagnosis. 42: 574-582. PMID 35278234 DOI: 10.1002/pd.6133 |
0.324 |
|
| 2022 |
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Akdemir ZC, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM, et al. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney International. PMID 35227688 DOI: 10.1016/j.kint.2022.01.028 |
0.315 |
|
| 2022 |
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, et al. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical Genetics. PMID 35170016 DOI: 10.1111/cge.14123 |
0.336 |
|
| 2022 |
Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, et al. Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. Human Mutation. 43: 347-361. PMID 35005812 DOI: 10.1002/humu.24324 |
0.316 |
|
| 2021 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 14: 757646. PMID 35002618 DOI: 10.3389/fnmol.2021.757646 |
0.482 |
|
| 2021 |
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, et al. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Research. PMID 34491000 DOI: 10.1002/bdr2.1950 |
0.541 |
|
| 2021 |
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. American Journal of Medical Genetics. Part A. PMID 34296525 DOI: 10.1002/ajmg.a.62426 |
0.529 |
|
| 2021 |
Wilpert NM, Marguet F, Maillard C, Guimiot F, Martinovic J, Drunat S, Attié-Bitach T, Razavi F, Tessier A, Capri Y, Laquerrière A, Bahi-Buisson N. Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome. European Journal of Medical Genetics. 64: 104282. PMID 34284163 DOI: 10.1016/j.ejmg.2021.104282 |
0.312 |
|
| 2021 |
Ghesh L, Denis Musquer M, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, et al. The first Two non-Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome. Clinical Genetics. PMID 34212369 DOI: 10.1111/cge.14021 |
0.348 |
|
| 2021 |
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, et al. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33941880 DOI: 10.1038/s41436-021-01158-1 |
0.361 |
|
| 2021 |
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, et al. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal of Medical Genetics. PMID 33820833 DOI: 10.1136/jmedgenet-2020-107595 |
0.46 |
|
| 2020 |
Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T. Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? Clinical Genetics. 98: 620-621. PMID 32926417 DOI: 10.1111/Cge.13840 |
0.494 |
|
| 2020 |
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, et al. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of Medical Genetics. PMID 32732226 DOI: 10.1136/Jmedgenet-2020-106867 |
0.427 |
|
| 2020 |
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, et al. Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations. PMID 32643087 DOI: 10.1007/S00784-020-03443-W |
0.476 |
|
| 2020 |
Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, et al. Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clinical Genetics. PMID 32621347 DOI: 10.1111/Cge.13801 |
0.428 |
|
| 2020 |
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, et al. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32565546 DOI: 10.1038/S41436-020-0872-8 |
0.339 |
|
| 2020 |
Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, Attie-Bitach T, Lyonnet S, Bilan F, Gilbert-Dussardier B, Vaivre-Douret L. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet Journal of Rare Diseases. 15: 136. PMID 32493418 DOI: 10.1186/S13023-020-01421-9 |
0.498 |
|
| 2020 |
Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics. PMID 32413283 DOI: 10.1016/J.Ajhg.2020.04.010 |
0.522 |
|
| 2020 |
Lamouroux A, Attie-Bitach T, Martinovic J, Leruez-Ville M, Ville Y. Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2. American Journal of Obstetrics and Gynecology. 223: 91.e1-91.e4. PMID 32376317 DOI: 10.1016/J.Ajog.2020.04.039 |
0.342 |
|
| 2020 |
Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, et al. TAR syndrome: clinical and molecular characterization of a cohort of 26 patients and description of novel non-coding variants of RBM8A. Human Mutation. PMID 32227665 DOI: 10.1002/humu.24021 |
0.368 |
|
| 2020 |
Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V. Functional Vision Analysis in Patients With CHARGE Syndrome. Journal of Pediatric Ophthalmology and Strabismus. 57: 120-128. PMID 32203596 DOI: 10.3928/01913913-20200207-02 |
0.38 |
|
| 2020 |
Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC. Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. American Journal of Medical Genetics. Part A. PMID 32052936 DOI: 10.1002/ajmg.a.61520 |
0.387 |
|
| 2019 |
Duarte K, Heide S, Poëa-Guyon S, Rousseau V, Depienne C, Rastetter A, Nava C, Attié-Bitach T, Razavi F, Martinovic J, Moutard ML, Cherfils J, Mignot C, Héron D, Barnier JV. PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. Neurobiology of Disease. 136: 104709. PMID 31843706 DOI: 10.1016/J.Nbd.2019.104709 |
0.457 |
|
| 2019 |
Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects. Prenatal Diagnosis. 39: 1026-1034. PMID 31299102 DOI: 10.1002/pd.5523 |
0.302 |
|
| 2019 |
Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C. Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31105273 DOI: 10.1038/S41436-019-0546-6 |
0.441 |
|
| 2019 |
Bizaoui V, Huber C, Kohaut E, Roume J, Bonnière M, Attié-Bitach T, Cormier-Daire V. Mutations in IFT80 cause SRPS Type IV. Report of two families and review. American Journal of Medical Genetics. Part A. PMID 30767363 DOI: 10.1002/Ajmg.A.61050 |
0.505 |
|
| 2019 |
Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P. Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. Clinical Genetics. 95: 420-426. PMID 30633342 DOI: 10.1111/Cge.13493 |
0.464 |
|
| 2019 |
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey AS, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, et al. Bardet-Biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. Clinical Genetics. PMID 30614526 DOI: 10.1111/Cge.13500 |
0.429 |
|
| 2019 |
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, et al. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain : a Journal of Neurology. 142: 35-49. PMID 30508070 DOI: 10.1093/Brain/Awy290 |
0.461 |
|
| 2018 |
Beaufrère A, Bonnière M, Tantau J, Roth P, Schaerer E, Brioude F, Netchine I, Bessières B, Gelot A, Vekemans M, Razavi F, Heron D, Attié-Bitach T. Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases. Fetal and Pediatric Pathology. 1-7. PMID 30595068 DOI: 10.1080/15513815.2018.1520942 |
0.619 |
|
| 2018 |
Putoux A, Baas D, Paschaki M, Morlé L, Maire C, Attié-Bitach T, Thomas S, Durand B. Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. Human Molecular Genetics. PMID 30445565 DOI: 10.1093/Hmg/Ddy392 |
0.388 |
|
| 2018 |
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. American Journal of Human Genetics. 103: 752-768. PMID 30388402 DOI: 10.1016/J.Ajhg.2018.10.006 |
0.377 |
|
| 2018 |
Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, et al. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sciences. 8. PMID 30087272 DOI: 10.3390/Brainsci8080145 |
0.455 |
|
| 2018 |
Beaufrère A, Bessières B, Bonnière M, Driessen M, Alfano C, Couderc T, Thiry M, Thelen N, Lecuit M, Attié-Bitach T, Vekemans M, Ville Y, Nguyen L, Leruez-Ville M, Encha-Razavi F. A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus. Brain Pathology (Zurich, Switzerland). PMID 30020561 DOI: 10.1111/Bpa.12644 |
0.42 |
|
| 2018 |
Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. Human Molecular Genetics. PMID 29771326 DOI: 10.1093/Hmg/Ddy179 |
0.449 |
|
| 2018 |
Quélin C, Loget P, Boutaud L, Elkhartoufi N, Milon J, Odent S, Fradin M, Demurger F, Pasquier L, Thomas S, Attié-Bitach T. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. American Journal of Medical Genetics. Part A. PMID 29704304 DOI: 10.1002/Ajmg.A.38685 |
0.348 |
|
| 2018 |
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, et al. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. American Journal of Medical Genetics. Part A. 176: 1091-1098. PMID 29681083 DOI: 10.1002/Ajmg.A.38684 |
0.713 |
|
| 2018 |
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, et al. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. European Journal of Medical Genetics. PMID 29605658 DOI: 10.1016/J.Ejmg.2018.03.012 |
0.557 |
|
| 2018 |
Egloff M, Nguyen LS, Siquier-Pernet K, Cormier-Daire V, Baujat G, Attié-Bitach T, Bole-Feysot C, Nitschke P, Vekemans M, Colleaux L, Malan V. Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance. European Journal of Human Genetics : Ejhg. PMID 29483668 DOI: 10.1038/S41431-018-0124-4 |
0.607 |
|
| 2018 |
Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, et al. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Journal of Medical Genetics. PMID 29459493 DOI: 10.1136/Jmedgenet-2017-104939 |
0.466 |
|
| 2018 |
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Birth Defects Research. PMID 29356416 DOI: 10.1002/Bdr2.1204 |
0.622 |
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| 2018 |
Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. Birth Defects Research. PMID 29316359 DOI: 10.1002/Bdr2.1191 |
0.668 |
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| 2017 |
Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, et al. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. European Journal of Human Genetics : Ejhg. PMID 29255276 DOI: 10.1038/S41431-017-0007-0 |
0.591 |
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| 2017 |
Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, et al. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Birth Defects Research. PMID 29193896 DOI: 10.1002/Bdr2.1154 |
0.649 |
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| 2017 |
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175: 417-430. PMID 29178447 DOI: 10.1002/Ajmg.C.31591 |
0.615 |
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| 2017 |
Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a Journal of Neurology. 140: 2597-2609. PMID 28969387 DOI: 10.1093/Brain/Awx218 |
0.629 |
|
| 2017 |
Darouich S, Boutaud L, Bessières B, Bonnière M, Martinovic J, Mechler C, Alby C, Bernard JP, Roth P, Ville Y, Malan V, Vekemans M, Attié-Bitach T, Encha-Razavi F. Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations. Birth Defects Research. PMID 28758373 DOI: 10.1002/Bdr2.1093 |
0.529 |
|
| 2017 |
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics. PMID 28289185 DOI: 10.1136/Jmedgenet-2016-104436 |
0.516 |
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| 2017 |
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. PMID 28283832 DOI: 10.1007/S00439-017-1772-0 |
0.563 |
|
| 2017 |
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. PMID 28250454 DOI: 10.1038/Ng.3794 |
0.463 |
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| 2017 |
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, et al. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28151489 DOI: 10.1038/Gim.2016.220 |
0.386 |
|
| 2017 |
Attié-Bitach T, Thomas S, Vekemans M. Apport du séquençage haut débit dans la compréhension des formes sévères de ciliopathies Morphologie. 101: 252. DOI: 10.1016/J.Morpho.2017.07.031 |
0.573 |
|
| 2017 |
Szenker E, Bellaing AMd, Narasimhan V, Roy S, Attie-Bitach T, Bouvagnet P, Reversade B. TOUT-DE-TRAVERS (TDT): A novel protease mutated in patients with heterotaxy drives left-right asymmetry upstream of Nodal signalling Mechanisms of Development. 145. DOI: 10.1016/J.Mod.2017.04.048 |
0.355 |
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| 2017 |
Heide S, Villemeur TBd, Nava C, Rastetter A, Mignot C, Depienne C, Keren B, Chantot-Bastaraud S, Attié-Bitach T, Boutaud L, Afenjar A, Whalen S, Portes Vd, Faivre L, Toutain A, et al. Clinical, chromosomal and molecular characterization of a cohort of 273 patients with agenesis of the corpus callosum European Journal of Paediatric Neurology. 21. DOI: 10.1016/J.Ejpn.2017.04.859 |
0.311 |
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| 2016 |
Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, et al. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain : a Journal of Neurology. PMID 27474218 DOI: 10.1093/Brain/Aww181 |
0.504 |
|
| 2016 |
Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, et al. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. Plos Genetics. 12: e1005894. PMID 26967905 DOI: 10.1371/Journal.Pgen.1005894 |
0.505 |
|
| 2016 |
Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. European Journal of Medical Genetics. 59: 195-7. PMID 26921530 DOI: 10.1016/J.Ejmg.2016.02.012 |
0.496 |
|
| 2016 |
Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S. First fetal case of the 8q24.3 contiguous genes syndrome. American Journal of Medical Genetics. Part A. 170: 239-42. PMID 26437074 DOI: 10.1002/Ajmg.A.37411 |
0.633 |
|
| 2016 |
Goudefroye G, Guirchon J, Ozilou C, Morichon-Delvallez N, Munnich A, Vekemans M, Attie-Bitach T, Etchevers H. Chromosomal, molecular and morphological analysis of a human embryo with homogeneous trisomy of chromosome 8 F1000research. 5. DOI: 10.7490/F1000Research.1111338.1 |
0.684 |
|
| 2016 |
Sanlaville D, Etchevers H, Clément-Ziza M, Goudefroye G, Audollent S, Detrait E, Attié-Bitach T, Vekemans M. Comparative expression patterns of CHD7 , TBX1, FOXG1b ( BF1 ) , DLX5 and FGF10 during human craniofacial development F1000research. 5. DOI: 10.7490/F1000Research.1111318.1 |
0.674 |
|
| 2015 |
Aalimi U, Spiegel E, Chervinsky I, Attie-Bitach T, Elkhartoufi N, Saunier S, Vekemans M, Abulil-Zuabi U, Chemke M, Spiegel R, Salev S. [HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]. Harefuah. 154: 632-6, 676. PMID 26742224 |
0.599 |
|
| 2015 |
Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, et al. A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test. Cytogenetic and Genome Research. 147: 103-10. PMID 26735902 DOI: 10.1159/000442904 |
0.52 |
|
| 2015 |
Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, et al. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 26663670 DOI: 10.1002/Bdra.23472 |
0.546 |
|
| 2015 |
Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology. PMID 26595381 DOI: 10.1038/Ncb3273 |
0.401 |
|
| 2015 |
Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. Journal of Medical Case Reports. 9: 254. PMID 26541515 DOI: 10.1186/S13256-015-0732-3 |
0.493 |
|
| 2015 |
Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Journal of Medical Genetics. 52: 657-65. PMID 26275418 DOI: 10.1136/Jmedgenet-2014-102838 |
0.361 |
|
| 2015 |
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. American Journal of Human Genetics. 97: 311-8. PMID 26166481 DOI: 10.1016/J.Ajhg.2015.06.003 |
0.718 |
|
| 2015 |
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, et al. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. The Journal of Cell Biology. 209: 129-42. PMID 25869670 DOI: 10.1083/Jcb.201411087 |
0.425 |
|
| 2015 |
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25790162 DOI: 10.1038/Gim.2015.29 |
0.606 |
|
| 2015 |
Karaer K, Yuksel Z, Ichkou A, Calisir C, Attié-Bitach T. A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. Clinical Dysmorphology. 24: 61-4. PMID 25714560 DOI: 10.1097/Mcd.0000000000000080 |
0.48 |
|
| 2015 |
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/Ejhg.2014.156 |
0.672 |
|
| 2015 |
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, et al. New insights into genotype-phenotype correlation for GLI3 mutations. European Journal of Human Genetics : Ejhg. 23: 92-102. PMID 24736735 DOI: 10.1038/Ejhg.2014.62 |
0.66 |
|
| 2015 |
Perrault I, Halbritter J, Porath J, Gerard X, Braun D, Gee H, Fathy H, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P7 |
0.423 |
|
| 2015 |
Grampa V, Delous M, Silbermann F, Oyde G, Krug P, Filhol E, Alessandri J, Sigaudy S, Bouvier R, Zabot M, Antignac C, Gubler M, Attié-Bitach T, Benmerah A, Jeanpierre C, et al. A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects Cilia. 4: 54. DOI: 10.1186/2046-2530-4-S1-P54 |
0.495 |
|
| 2015 |
Attie-Bitach T, Alby C, Boutaud L, Malan V, Bahi-Buisson N, Ichkou A, Ville Y, Bole-Feysot C, Nitschke P, Thomas S, Razavi F, Vekemans M. Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux Morphologie. 99: 165. DOI: 10.1016/J.Morpho.2015.09.036 |
0.498 |
|
| 2015 |
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar SE, Laurent N, Faivre L, Sztriha L, Zombor M, et al. Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) American Journal of Human Genetics. 97: 1923. DOI: 10.1016/J.Ajhg.2015.07.011 |
0.716 |
|
| 2014 |
Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, et al. Inappropriate p53 activation during development induces features of CHARGE syndrome. Nature. 514: 228-32. PMID 25119037 DOI: 10.1038/Nature13585 |
0.425 |
|
| 2014 |
Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, et al. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Human Mutation. 35: 478-85. PMID 24470203 DOI: 10.1002/Humu.22517 |
0.723 |
|
| 2014 |
Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, et al. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Human Molecular Genetics. 23: 171-81. PMID 23966205 DOI: 10.1093/Hmg/Ddt409 |
0.314 |
|
| 2013 |
Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4 European Journal of Medical Genetics. 56: 580-583. PMID 23954617 DOI: 10.1016/J.Ejmg.2013.08.002 |
0.504 |
|
| 2013 |
Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. American Journal of Medical Genetics. Part A. 161: 1797-802. PMID 23713051 DOI: 10.1002/Ajmg.A.36054 |
0.658 |
|
| 2013 |
Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clinical Journal of the American Society of Nephrology : Cjasn. 8: 1179-87. PMID 23539225 DOI: 10.2215/Cjn.10221012 |
0.485 |
|
| 2013 |
Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Neuromuscular Disorders. 23: 823. DOI: 10.1016/J.Nmd.2013.06.640 |
0.314 |
|
| 2012 |
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Journal of Medical Genetics. 49: 737-46. PMID 23188108 DOI: 10.1136/Jmedgenet-2012-101173 |
0.726 |
|
| 2012 |
Attie-Bitach T. [From foetopathology to disease-causing gene]. Annales De Pathologie. 32: S48-9. PMID 23127939 DOI: 10.1016/J.Annpat.2012.08.007 |
0.321 |
|
| 2012 |
Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Proceedings of the National Academy of Sciences of the United States of America. 109: 16951-6. PMID 23027964 DOI: 10.1073/Pnas.1201408109 |
0.451 |
|
| 2012 |
McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860 |
0.405 |
|
| 2012 |
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics. 91: 372-8. PMID 22883145 DOI: 10.1016/J.Ajhg.2012.06.017 |
0.74 |
|
| 2012 |
Baral V, Chaoui A, Watanabe Y, Goossens M, Attie-Bitach T, Marlin S, Pingault V, Bondurand N. Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. Plos One. 7: e41927. PMID 22848661 DOI: 10.1371/Journal.Pone.0041927 |
0.531 |
|
| 2012 |
Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/Science.1213506 |
0.403 |
|
| 2012 |
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078 |
0.503 |
|
| 2012 |
Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, et al. Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain : a Journal of Neurology. 135: e199; author reply e. PMID 21609947 DOI: 10.1093/Brain/Awr108 |
0.596 |
|
| 2012 |
Putoux A, Attie-Bitach T, Martinovic J, Gubler MC. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatric Nephrology (Berlin, Germany). 27: 7-15. PMID 21246219 DOI: 10.1007/S00467-010-1751-3 |
0.471 |
|
| 2011 |
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC. Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. American Journal of Medical Genetics. Part A. 155: 2465-8. PMID 21910233 DOI: 10.1002/Ajmg.A.34205 |
0.458 |
|
| 2011 |
Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, et al. GLI3 is rarely implicated in OFD syndromes with midline abnormalities. Human Mutation. 32: 1332-3. PMID 21796731 DOI: 10.1002/Humu.21570 |
0.458 |
|
| 2011 |
Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. American Journal of Human Genetics. 89: 94-110. PMID 21763481 DOI: 10.1016/j.ajhg.2011.06.003 |
0.453 |
|
| 2011 |
Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, Attié-Bitach T, Attia-Sobol J, Faivre L. Cerebral dysgenesis does not exclude OFD I syndrome. American Journal of Medical Genetics. Part A. 155: 455-7. PMID 21271673 DOI: 10.1002/Ajmg.A.33812 |
0.392 |
|
| 2011 |
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756 |
0.458 |
|
| 2010 |
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Human Molecular Genetics. 19: 4462-73. PMID 20829227 DOI: 10.1093/Hmg/Ddq377 |
0.475 |
|
| 2010 |
Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, et al. BBS10 mutations are common in 'Meckel'-type cystic kidneys. Journal of Medical Genetics. 47: 848-52. PMID 20805367 DOI: 10.1136/Jmg.2010.079392 |
0.65 |
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| 2010 |
Kinzel D, Boldt K, Davis EE, Burtscher I, Trümbach D, Diplas B, Attié-Bitach T, Wurst W, Katsanis N, Ueffing M, Lickert H. Pitchfork regulates primary cilia disassembly and left-right asymmetry. Developmental Cell. 19: 66-77. PMID 20643351 DOI: 10.1016/J.Devcel.2010.06.005 |
0.434 |
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| 2010 |
Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T. Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Molecular Genetics and Metabolism. 101: 253-7. PMID 20638314 DOI: 10.1016/J.Ymgme.2010.06.009 |
0.537 |
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| 2010 |
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/Ng.594 |
0.68 |
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| 2010 |
Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, et al. Posterior fossa imaging in 158 children with ataxia. Journal of Neuroradiology. Journal De Neuroradiologie. 37: 220-30. PMID 20378176 DOI: 10.1016/J.Neurad.2009.12.009 |
0.332 |
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| 2010 |
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/Humu.21239 |
0.526 |
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| 2009 |
Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. American Journal of Medical Genetics. Part A. 149: 2813-9. PMID 19921647 DOI: 10.1002/Ajmg.A.33097 |
0.386 |
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| 2009 |
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/Ajmg.A.33025 |
0.542 |
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| 2009 |
de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America. 106: 13921-6. PMID 19666486 DOI: 10.1073/Pnas.0901219106 |
0.775 |
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| 2009 |
Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, et al. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. European Journal of Medical Genetics. 52: 386-92. PMID 19635601 DOI: 10.1016/J.Ejmg.2009.07.006 |
0.747 |
|
| 2009 |
Ouertani I, Chaabouni M, Turki I, Lelorc'h M, Attié-Bitach T, Ben Jemaa L, Khouja-Gouider N, Chaabouni H. A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia. European Journal of Medical Genetics. 52: 256-9. PMID 19450439 DOI: 10.1016/J.Ejmg.2009.01.004 |
0.33 |
|
| 2009 |
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, et al. Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. American Journal of Medical Genetics. Part A. 149: 1108-15. PMID 19449422 DOI: 10.1002/Ajmg.A.32859 |
0.48 |
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| 2009 |
Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Human Mutation. 30: E673-81. PMID 19309693 DOI: 10.1002/Humu.21023 |
0.736 |
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| 2009 |
Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Human Molecular Genetics. 18: 440-53. PMID 18996921 DOI: 10.1093/Hmg/Ddn371 |
0.358 |
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| 2008 |
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023 |
0.476 |
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| 2007 |
Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. American Journal of Human Genetics. 81: 1169-85. PMID 17999358 DOI: 10.1086/522090 |
0.55 |
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| 2007 |
Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach A, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability Clinical Genetics. 72: 112-121. PMID 17661815 DOI: 10.1111/J.1399-0004.2007.00821.X |
0.61 |
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| 2007 |
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. American Journal of Human Genetics. 81: 170-9. PMID 17564974 DOI: 10.1086/519494 |
0.742 |
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| 2007 |
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. 39: 875-81. PMID 17558409 DOI: 10.1038/Ng2039 |
0.659 |
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| 2007 |
Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. American Journal of Human Genetics. 80: 1179-87. PMID 17503335 DOI: 10.1086/518177 |
0.78 |
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| 2007 |
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, et al. Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. Journal of Medical Genetics. 44: 537-40. PMID 17468296 DOI: 10.1136/Jmg.2006.048736 |
0.724 |
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| 2007 |
Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, Romana S, Chaabouni H. De novo trisomy 20p of paternal origin. American Journal of Medical Genetics. Part A. 143: 1100-3. PMID 17431912 DOI: 10.1002/Ajmg.A.31704 |
0.36 |
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| 2007 |
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human Mutation. 28: 523-4. PMID 17397051 DOI: 10.1002/Humu.9489 |
0.724 |
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| 2007 |
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Human Mutation. 28: 790-6. PMID 17397038 DOI: 10.1002/Humu.20517 |
0.622 |
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| 2007 |
Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics. 16: 173-86. PMID 17185389 DOI: 10.1093/Hmg/Ddl459 |
0.413 |
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| 2007 |
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics. 80: 186-94. PMID 17160906 DOI: 10.1086/510499 |
0.756 |
|
| 2006 |
Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenatal Diagnosis. 26: 1201-5. PMID 17075794 DOI: 10.1002/Pd.1588 |
0.71 |
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| 2006 |
Oey NA, Ruiter JPN, IJlst L, Attie-Bitach T, Vekemans M, Wanders RJA, Wijburg FA. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochemical and Biophysical Research Communications. 346: 33-37. PMID 16750164 DOI: 10.1016/J.Bbrc.2006.05.088 |
0.518 |
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| 2006 |
Malan V, Martinovic J, Sanlaville D, Caillat S, Waill MC, Ganne ML, Tantau J, Attie-Bitach T, Vekemans M, Morichon-Delvallez N. Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenatal Diagnosis. 26: 231-8. PMID 16450350 DOI: 10.1002/Pd.1386 |
0.503 |
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| 2006 |
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nature Genetics. 38: 191-6. PMID 16415887 DOI: 10.1038/Ng1713 |
0.491 |
|
| 2006 |
Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. Journal of Medical Genetics. 43: 598-608. PMID 16415175 DOI: 10.1136/Jmg.2005.040162 |
0.589 |
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| 2005 |
Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attié-Bitach T. Long-chain fatty acid oxidation during early human development. Pediatric Research. 57: 755-9. PMID 15845636 DOI: 10.1203/01.Pdr.0000161413.42874.74 |
0.532 |
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| 2005 |
Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation American Journal of Medical Genetics Part A. 134: 39-44. PMID 15732060 DOI: 10.1002/Ajmg.A.30468 |
0.379 |
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| 2005 |
Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Human Molecular Genetics. 14: 903-12. PMID 15703188 DOI: 10.1093/Hmg/Ddi083 |
0.714 |
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| 2005 |
Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. American Journal of Human Genetics. 76: 334-9. PMID 15592994 DOI: 10.1086/427564 |
0.571 |
|
| 2004 |
Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, et al. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. Journal of Medical Genetics. 41: 381-6. PMID 15121778 DOI: 10.1136/Jmg.2003.014829 |
0.799 |
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| 2003 |
Vekemans BC, Bonnefont JP, Aupetit J, Royer G, Droin V, Attié-Bitach T, Saudubray JM, Thuillier L. Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach. Prenatal Diagnosis. 23: 884-7. PMID 14634971 DOI: 10.1002/Pd.713 |
0.387 |
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| 2003 |
de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Human Molecular Genetics. 12: 3173-80. PMID 14532329 DOI: 10.1093/Hmg/Ddg339 |
0.705 |
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| 2003 |
Germanaud D, Audollent S, Augé J, Vekemans M, Attié-Bitach T. Détection moléculaire des aneuploïdies les plus fréquentes par PCR quantitative fluorescente (FQ-PCR) Archives De Pediatrie. 10: 347-349. PMID 12818758 DOI: 10.1016/S0929-693X(03)00080-0 |
0.458 |
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| 2003 |
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics. 33: 459-61. PMID 12640453 DOI: 10.1038/Ng1130 |
0.807 |
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| 2002 |
Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genetics. 31: 89-93. PMID 11953745 DOI: 10.1038/Ng868 |
0.568 |
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| 2002 |
Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. The American Journal of Pathology. 160: 973-83. PMID 11891195 DOI: 10.1016/S0002-9440(10)64919-X |
0.377 |
|
| 2001 |
Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier J. Renal coloboma syndrome Ophthalmology. 108: 1912-1916. PMID 11581073 DOI: 10.1016/S0161-6420(01)00722-9 |
0.385 |
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| 2001 |
Amiel J, Attie-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome American Journal of Medical Genetics. 99: 124-127. PMID 11241470 DOI: 10.1002/1096-8628(20010301)99:2<124::Aid-Ajmg1114>3.0.Co;2-9 |
0.508 |
|
| 2001 |
Salomon R, Tellier A, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler M, Broyer M. PAX2 mutations in oligomeganephronia Kidney International. 59: 457-462. PMID 11168927 DOI: 10.1046/J.1523-1755.2001.059002457.X |
0.69 |
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| 2001 |
Rendtorff ND, Frödin M, Attié-Bitach T, Vekemans M, Tommerup N. Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. Genomics. 71: 40-52. PMID 11161796 DOI: 10.1006/Geno.2000.6409 |
0.568 |
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| 2000 |
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A, Augé J, Bouissou F, Antignac C, Gubler M, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. European Journal of Human Genetics. 8: 820-826. PMID 11093271 DOI: 10.1038/Sj.Ejhg.5200539 |
0.736 |
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| 2000 |
Gimm O, Attié-Bitach T, Lees JA, Vekemans M, Eng C. Expression of the PTEN tumour suppressor protein during human development. Human Molecular Genetics. 9: 1633-9. PMID 10861290 DOI: 10.1093/Hmg/9.11.1633 |
0.602 |
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| 2000 |
Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S. Génétique moléculaire de la maladie de Hirschsprung: un modèle de neurocristopathie multigénique. Biologie Aujourd'Hui. 194: 125-128. DOI: 10.1051/Jbio/2000194030125 |
0.596 |
|
| 1999 |
Odent S, Attié-Bitach T, Blayau M, Mathieu M, Augé J, Delezoïde AL, Le Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly Human Molecular Genetics. 8: 1683-1689. PMID 10441331 DOI: 10.1093/Hmg/8.9.1683 |
0.669 |
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