| Year |
Citation |
Score |
| 2023 |
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, ... ... Villard L, et al. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European Journal of Human Genetics : Ejhg. PMID 37344571 DOI: 10.1038/s41431-023-01410-z |
0.301 |
|
| 2023 |
Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. Journal of Medical Genetics. PMID 36849228 DOI: 10.1136/jmg-2022-108677 |
0.339 |
|
| 2022 |
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, ... Villard L, et al. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570. PMID 36323681 DOI: 10.1038/s41467-022-34264-y |
0.316 |
|
| 2021 |
Felix MS, Borloz E, Metwally K, Dauba A, Larrat B, Matagne V, Ehinger Y, Villard L, Novell A, Mensah S, Roux JC. Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice. Pharmaceutics. 13. PMID 34452206 DOI: 10.3390/pharmaceutics13081245 |
0.547 |
|
| 2021 |
Borloz E, Villard L, Roux JC. Rett syndrome: think outside the (skull) box. Faculty Reviews. 10: 59. PMID 34308425 DOI: 10.12703/r/10-59 |
0.608 |
|
| 2021 |
Ehinger Y, Matagne V, Cunin V, Borloz E, Seve M, Bourgoin-Voillard S, Borges-Correia A, Villard L, Roux JC. Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome. International Journal of Molecular Sciences. 22. PMID 33919253 DOI: 10.3390/ijms22094316 |
0.626 |
|
| 2021 |
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, ... ... Villard L, et al. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics : Ejhg. PMID 33603160 DOI: 10.1038/s41431-021-00821-0 |
0.328 |
|
| 2020 |
Matagne V, Borloz E, Ehinger Y, Saidi L, Villard L, Roux JC. Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome. Neurobiology of Disease. 149: 105235. PMID 33383186 DOI: 10.1016/j.nbd.2020.105235 |
0.562 |
|
| 2020 |
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 32694024 DOI: 10.1016/J.Ejpn.2020.06.002 |
0.417 |
|
| 2020 |
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, ... ... Villard L, et al. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. Epilepsia. PMID 32645220 DOI: 10.1111/Epi.16582 |
0.379 |
|
| 2020 |
El Waly B, Mignon-Ravix C, Cacciagli P, Buhler E, Ben Zeev B, Villard L. Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria. European Journal of Human Genetics : Ejhg. PMID 32488097 DOI: 10.1038/S41431-020-0659-Z |
0.5 |
|
| 2020 |
Milh M, Roubertoux P, Biba N, Chavany J, Spiga Ghata A, Fulachier C, Collins SC, Wagner C, Roux JC, Yalcin B, Félix MS, Molinari F, Lenck-Santini PP, Villard L. A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. Epilepsia. PMID 32239694 DOI: 10.1111/Epi.16494 |
0.617 |
|
| 2020 |
Ehinger Y, Bruyère J, Panayotis N, Abada YS, Borloz E, Matagne V, Scaramuzzino C, Vitet H, Delatour B, Saidi L, Villard L, Saudou F, Roux JC. Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice. Embo Molecular Medicine. e10889. PMID 31913581 DOI: 10.15252/Emmm.201910889 |
0.625 |
|
| 2019 |
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, ... ... Villard L, et al. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics. PMID 31079897 DOI: 10.1016/J.Ajhg.2019.03.021 |
0.391 |
|
| 2019 |
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, ... ... Villard L, et al. Analysis of the Phenotypes in the Rett Networked Database. International Journal of Genomics. 2019: 6956934. PMID 31049350 DOI: 10.1155/2019/6956934 |
0.437 |
|
| 2019 |
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, et al. Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30783266 DOI: 10.1038/S41436-019-0460-Y |
0.327 |
|
| 2018 |
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Sogawa Y, Johnson D, et al. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30356099 DOI: 10.1038/S41436-018-0339-3 |
0.377 |
|
| 2018 |
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, ... ... Villard L, et al. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30206421 DOI: 10.1038/S41436-018-0268-1 |
0.303 |
|
| 2018 |
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, ... ... Villard L, et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Human Genetics. PMID 30167850 DOI: 10.1007/S00439-018-1929-5 |
0.36 |
|
| 2018 |
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, ... ... Villard L, et al. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29997391 DOI: 10.1038/S41436-018-0089-2 |
0.383 |
|
| 2018 |
Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, et al. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations. Brain & Development. PMID 29861155 DOI: 10.1016/J.Braindev.2018.05.008 |
0.416 |
|
| 2018 |
Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L. Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. Human Mutation. PMID 29663568 DOI: 10.1002/Humu.23534 |
0.409 |
|
| 2018 |
Ehinger Y, Matagne V, Villard L, Roux JC. Rett syndrome from bench to bedside: recent advances. F1000research. 7: 398. PMID 29636907 DOI: 10.12688/F1000Research.14056.1 |
0.638 |
|
| 2018 |
Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallée L, Bahi-Buisson N, Truillet R, ... ... Villard L, et al. Effect of desipramine on patients with breathing disorders in RETT syndrome. Annals of Clinical and Translational Neurology. 5: 118-127. PMID 29468173 DOI: 10.1002/Acn3.468 |
0.603 |
|
| 2017 |
Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. European Journal of Human Genetics : Ejhg. PMID 29187737 DOI: 10.1038/S41431-017-0018-X |
0.415 |
|
| 2017 |
Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G. In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation. Neuropathology and Applied Neurobiology. PMID 28489313 DOI: 10.1111/Nan.12409 |
0.455 |
|
| 2017 |
Wolff M, Johannesen KM, Hedrich UB, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain : a Journal of Neurology. PMID 28379373 DOI: 10.1093/Brain/Awx054 |
0.367 |
|
| 2017 |
Valence S, Garel C, Bastaraud SC, Afenjar A, Barthez MA, Bednarek N, Goizet C, Lacombe D, Milh M, Moutard ML, Robin S, Roubertie A, Rougeot C, Sarda P, Toutain A, ... Villard L, et al. Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies European Journal of Paediatric Neurology. 21. DOI: 10.1016/J.Ejpn.2017.04.849 |
0.377 |
|
| 2016 |
Matagne V, Ehinger Y, Saidi L, Borges-Correia A, Barkats M, Bartoli M, Villard L, Roux JC. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiology of Disease. 99: 1-11. PMID 27974239 DOI: 10.1016/J.Nbd.2016.12.009 |
0.648 |
|
| 2016 |
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, ... ... Villard L, et al. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. American Journal of Medical Genetics. Part A. PMID 27605097 DOI: 10.1002/Ajmg.A.37878 |
0.486 |
|
| 2016 |
Devaux J, Abidi A, Roubertie A, Molinari F, Becq H, Lacoste C, Villard L, Milh M, Aniksztejn L. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity. Epilepsia. PMID 27030113 DOI: 10.1111/Epi.13366 |
0.319 |
|
| 2016 |
Milh M, Cacciagli P, Ravix C, Badens C, Lépine A, Villeneuve N, Villard L. [In Process Citation]. Revue Neurologique. 172: 171-3. PMID 26993565 DOI: 10.1016/J.Neurol.2016.02.005 |
0.441 |
|
| 2015 |
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, ... ... Villard L, et al. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Epilepsia. PMID 26514728 DOI: 10.1111/Epi.13214 |
0.418 |
|
| 2015 |
Doummar D, Mignot C, Apartis E, Villard L, Rodriguez D, Chantot-Bastauraud S, Burglen L. A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1431-2. PMID 26207815 DOI: 10.1002/Mds.26303 |
0.394 |
|
| 2015 |
Abidi A, Mignon-Ravix C, Cacciagli P, Girard N, Milh M, Villard L. Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. European Journal of Human Genetics : Ejhg. PMID 26173968 DOI: 10.1038/Ejhg.2015.159 |
0.409 |
|
| 2015 |
Choucair N, Mignon-Ravix C, Cacciagli P, Abou Ghoch J, Fawaz A, Mégarbané A, Villard L, Chouery E. Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. Molecular Cytogenetics. 8: 39. PMID 26082802 DOI: 10.1186/S13039-015-0149-0 |
0.482 |
|
| 2015 |
Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, ... ... Villard L, et al. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels. Neurobiology of Disease. 80: 80-92. PMID 26007637 DOI: 10.1016/J.Nbd.2015.04.017 |
0.348 |
|
| 2015 |
Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. American Journal of Medical Genetics. Part A. 167: 2314-8. PMID 25959266 DOI: 10.1002/Ajmg.A.37152 |
0.443 |
|
| 2015 |
Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E. Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. Molecular Cytogenetics. 8: 26. PMID 25922617 DOI: 10.1186/S13039-015-0130-Y |
0.398 |
|
| 2015 |
Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, et al. Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia. 56: 569-76. PMID 25789914 DOI: 10.1111/Epi.12941 |
0.376 |
|
| 2015 |
Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Epilepsy Research. 111: 72-7. PMID 25769375 DOI: 10.1016/J.Eplepsyres.2015.01.008 |
0.394 |
|
| 2015 |
El Waly B, Buhler E, Haddad MR, Villard L. Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex. Molecular Neurobiology. 52: 771-82. PMID 25288157 DOI: 10.1007/S12035-014-8919-Y |
0.636 |
|
| 2015 |
Roux JC, Villard L. Neurobehavioral testing of mouse models of Rett syndrome Neuromethods. 100: 399-430. DOI: 10.1007/978-1-4939-2250-5_16 |
0.547 |
|
| 2014 |
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, ... ... Villard L, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. American Journal of Human Genetics. 95: 113-20. PMID 24995870 DOI: 10.1016/J.Ajhg.2014.06.006 |
0.446 |
|
| 2014 |
Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, et al. Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? American Journal of Medical Genetics. Part A. 164: 2161-71. PMID 24842779 DOI: 10.1002/Ajmg.A.36611 |
0.439 |
|
| 2014 |
Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. American Journal of Medical Genetics. Part A. 164: 1991-7. PMID 24817631 DOI: 10.1002/Ajmg.A.36602 |
0.487 |
|
| 2014 |
El-Khoury R, Panayotis N, Matagne V, Ghata A, Villard L, Roux JC. GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice. Plos One. 9: e92169. PMID 24667344 DOI: 10.1371/Journal.Pone.0092169 |
0.586 |
|
| 2014 |
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics : Ejhg. 22: 363-8. PMID 23756445 DOI: 10.1038/Ejhg.2013.135 |
0.483 |
|
| 2013 |
Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. American Journal of Human Genetics. 93: 579-86. PMID 24011989 DOI: 10.1016/J.Ajhg.2013.07.023 |
0.629 |
|
| 2013 |
Tanyalçin I, Verhelst H, Halley DJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC. Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 17: 666-70. PMID 23755938 DOI: 10.1016/J.Ejpn.2013.05.002 |
0.395 |
|
| 2013 |
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, ... ... Villard L, et al. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet Journal of Rare Diseases. 8: 80. PMID 23692823 DOI: 10.1186/1750-1172-8-80 |
0.443 |
|
| 2013 |
Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, ... Villard L, et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Human Molecular Genetics. 22: 3306-14. PMID 23615299 DOI: 10.1093/Hmg/Ddt187 |
0.472 |
|
| 2013 |
Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Human Mutation. 34: 869-72. PMID 23526554 DOI: 10.1002/Humu.22318 |
0.398 |
|
| 2013 |
Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. PP2.2 – 2026 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy European Journal of Paediatric Neurology. 17. DOI: 10.1016/S1090-3798(13)70112-0 |
0.334 |
|
| 2013 |
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Villeneuve N, Roubertie A, Héron B, Kaminska A, Altuzara C, Blanchard G, Ville D, Barthez H, Héron D, Afenjar A, ... ... Villard L, et al. O9 – 2019 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 European Journal of Paediatric Neurology. 17: S3-S4. DOI: 10.1016/S1090-3798(13)70011-4 |
0.31 |
|
| 2013 |
Milh M, Sutera-Sardo J, Boutry-Kryza N, Auvin S, Mignot C, Lacoste C, Villeneuve N, Roubertie A, Carneiro M, Kaminska A, Altuzzara C, Blanchard G, Ville D, Barthez M, Heron D, ... ... Villard L, et al. Encéphalopathies épileptiques précoces et mutations de novo de KCNQ2 : large spectre phénotypique. Une étude multicentrique de 15 patients Archives De PéDiatrie. 20: 429. DOI: 10.1016/J.Arcped.2013.01.045 |
0.338 |
|
| 2012 |
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, et al. Rett networked database: an integrated clinical and genetic network of Rett syndrome databases. Human Mutation. 33: 1031-6. PMID 22415763 DOI: 10.1002/Humu.22072 |
0.381 |
|
| 2012 |
Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L. [Unexpected link between Huntington disease and Rett syndrome]. Mã©Decine Sciences : M/S. 28: 44-6. PMID 22289830 DOI: 10.1051/Medsci/2012281016 |
0.591 |
|
| 2012 |
Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L. Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. Neurobiology of Disease. 45: 786-95. PMID 22127389 DOI: 10.1016/J.Nbd.2011.11.002 |
0.592 |
|
| 2011 |
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia. 52: 1828-34. PMID 21770924 DOI: 10.1111/J.1528-1167.2011.03181.X |
0.377 |
|
| 2011 |
Panayotis N, Ghata A, Villard L, Roux JC. Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain. Bmc Neuroscience. 12: 47. PMID 21609470 DOI: 10.1186/1471-2202-12-47 |
0.652 |
|
| 2011 |
Mégarbané A, Chouery E, Mignon-Ravix C, El Sabbagh S, Corbani S, Ghoch JA, Jalkh N, Mehawej C, Lévy N, Villard L. Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome. American Journal of Medical Genetics. Part A. 155: 1147-51. PMID 21465653 DOI: 10.1002/Ajmg.A.33938 |
0.434 |
|
| 2011 |
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? American Journal of Medical Genetics. Part A. 155: 880-4. PMID 21416592 DOI: 10.1002/Ajmg.A.33879 |
0.373 |
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| 2011 |
Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC. Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse. Neurobiology of Disease. 41: 385-97. PMID 20951208 DOI: 10.1016/J.Nbd.2010.10.006 |
0.611 |
|
| 2011 |
Pratte M, Panayotis N, Ghata A, Villard L, Roux JC. Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice. Behavioural Brain Research. 216: 313-20. PMID 20713094 DOI: 10.1016/J.Bbr.2010.08.011 |
0.631 |
|
| 2010 |
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, ... ... Villard L, et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain : a Journal of Neurology. 133: 3194-209. PMID 20929962 DOI: 10.1093/Brain/Awq259 |
0.447 |
|
| 2010 |
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, ... ... Villard L, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics. 42: 1021-6. PMID 20890276 DOI: 10.1038/Ng.677 |
0.345 |
|
| 2010 |
Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. European Journal of Human Genetics : Ejhg. 18: 1360-3. PMID 20683487 DOI: 10.1038/Ejhg.2010.126 |
0.768 |
|
| 2010 |
Roux JC, Panayotis N, Dura E, Villard L. Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice. Journal of Neuroscience Research. 88: 1500-9. PMID 19998492 DOI: 10.1002/Jnr.22312 |
0.603 |
|
| 2010 |
Roux JC, Villard L. Biogenic amines in Rett syndrome: the usual suspects. Behavior Genetics. 40: 59-75. PMID 19851857 DOI: 10.1007/S10519-009-9303-Y |
0.659 |
|
| 2010 |
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, ... ... Villard L, et al. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Journal of Medical Genetics. 47: 155-61. PMID 19833603 DOI: 10.1136/Jmg.2009.070573 |
0.456 |
|
| 2010 |
Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. Journal of Medical Genetics. 47: 132-6. PMID 19635726 DOI: 10.1136/Jmg.2009.069112 |
0.778 |
|
| 2010 |
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. Journal of Medical Genetics. 47: 49-53. PMID 19578037 DOI: 10.1136/Jmg.2009.067884 |
0.467 |
|
| 2009 |
Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, ... ... Villard L, et al. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. Journal of Neurology, Neurosurgery, and Psychiatry. 80: 1394-8. PMID 19917821 DOI: 10.1136/Jnnp.2008.162263 |
0.404 |
|
| 2009 |
Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, Maldergem Lv, Roux JC, Villard L. Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. Gene Expression Patterns : Gep. 9: 423-9. PMID 19524067 DOI: 10.1016/J.Gep.2009.06.001 |
0.745 |
|
| 2009 |
Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features. European Journal of Medical Genetics. 52: 211-7. PMID 19379847 DOI: 10.1016/J.Ejmg.2009.04.002 |
0.684 |
|
| 2009 |
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology. 72: 784-92. PMID 19073947 DOI: 10.1212/01.Wnl.0000336339.08878.2D |
0.434 |
|
| 2008 |
Roux JC, Dura E, Villard L. Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse. Neuroscience Letters. 447: 82-6. PMID 18834926 DOI: 10.1016/J.Neulet.2008.09.045 |
0.613 |
|
| 2008 |
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, ... ... Villard L, et al. TCF4 deletions in Pitt-Hopkins Syndrome. Human Mutation. 29: E242-51. PMID 18781613 DOI: 10.1002/Humu.20859 |
0.444 |
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| 2008 |
Dura E, Villard L, Roux JC. Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem. Brain Research. 1236: 176-84. PMID 18761004 DOI: 10.1016/J.Brainres.2008.08.021 |
0.638 |
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| 2008 |
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. Journal of Medical Genetics. 45: 647-53. PMID 18728072 DOI: 10.1136/Jmg.2008.058073 |
0.413 |
|
| 2007 |
Roux JC, Villard L. [Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model]. Mã©Decine Sciences : M/S. 23: 805-7. PMID 17937887 DOI: 10.1051/Medsci/20072310805 |
0.576 |
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| 2007 |
Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N. A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype. Human Mutation. 28: 1183-8. PMID 17676597 DOI: 10.1002/Humu.20611 |
0.424 |
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| 2007 |
Roux JC, Dura E, Moncla A, Mancini J, Villard L. Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. The European Journal of Neuroscience. 25: 1915-22. PMID 17439480 DOI: 10.1111/J.1460-9568.2007.05466.X |
0.626 |
|
| 2007 |
Villard L. MECP2 mutations in males. Journal of Medical Genetics. 44: 417-23. PMID 17351020 DOI: 10.1136/Jmg.2007.049452 |
0.436 |
|
| 2007 |
Viola A, Saywell V, Villard L, Cozzone PJ, Lutz NW. Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model. Plos One. 2: e157. PMID 17237885 DOI: 10.1371/Journal.Pone.0000157 |
0.415 |
|
| 2007 |
Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Human Mutation. 28: 356-64. PMID 17191205 DOI: 10.1002/Humu.20450 |
0.455 |
|
| 2006 |
Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. The incidence of Rett syndrome in France. Pediatric Neurology. 34: 372-5. PMID 16647997 DOI: 10.1016/J.Pediatrneurol.2005.10.013 |
0.428 |
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| 2006 |
Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. European Journal of Medical Genetics. 49: 9-18. PMID 16473305 DOI: 10.1016/J.Ejmg.2005.04.003 |
0.447 |
|
| 2006 |
Villard L, Roux JC. [Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model]. Mã©Decine Sciences : M/S. 22: 81-3. PMID 16386227 DOI: 10.1051/Medsci/200622181 |
0.59 |
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| 2006 |
Saywell V, Viola A, Confort-Gouny S, Le Fur Y, Villard L, Cozzone PJ. Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism. Biochemical and Biophysical Research Communications. 340: 776-83. PMID 16380085 DOI: 10.1016/J.Bbrc.2005.12.080 |
0.416 |
|
| 2005 |
Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Peña F, Zanella S, Bévengut M, Barthelemy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G. Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 11521-30. PMID 16354910 DOI: 10.1523/Jneurosci.4373-05.2005 |
0.609 |
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| 2005 |
Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. American Journal of Medical Genetics. Part A. 138: 314-7. PMID 16158428 DOI: 10.1002/Ajmg.A.30882 |
0.455 |
|
| 2005 |
Iurov IIu, Vorsanova SG, Voinova-Ulas VIu, Villard L, Demidova IA, Giunti L, Guivabyccu-Uzielli ML, Budilov AV, Beresheva AK, Novikov PV, Iurov IuV. [Epigenetic study of Rett's syndrome as an adequate model for autistic disorders]. Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova / Ministerstvo Zdravookhraneniia I Meditsinskoä Promyshlennosti RossiäSkoä Federatsii, VserossiäSkoe Obshchestvo Nevrologov [I] VserossiäSkoe Obshchestvo Psikhiatrov. 105: 4-11. PMID 16117140 |
0.37 |
|
| 2004 |
Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. Journal of Medical Genetics. 41: 736-42. PMID 15466006 DOI: 10.1136/Jmg.2004.021626 |
0.481 |
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| 2004 |
Lower KM, Kumar R, Woollatt E, Villard L, Gecz J, Sutherland GR, Callen DF. Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? Hormone Research. 62: 208-14. PMID 15452386 DOI: 10.1159/000081064 |
0.458 |
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| 2003 |
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. Journal of Medical Genetics. 40: 441-6. PMID 12807966 DOI: 10.1136/Jmg.40.6.441 |
0.489 |
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| 2002 |
Vorsanova SG, Ulas VIu, Iurov IuB, Giovanucci-Uzielli ML, Demidova IA, Gianti L, Villard L, Iurov IIu, Beresheva AK, Novikov PV. [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]. Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova / Ministerstvo Zdravookhraneniia I Meditsinskoä Promyshlennosti RossiäSkoä Federatsii, VserossiäSkoe Obshchestvo Nevrologov [I] VserossiäSkoe Obshchestvo Psikhiatrov. 102: 23-9. PMID 12449561 |
0.382 |
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| 2002 |
Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Human Molecular Genetics. 11: 2793-804. PMID 12374769 DOI: 10.1093/Hmg/11.22.2793 |
0.446 |
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| 2002 |
Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J. Spectrum of MECP2 mutations in Rett syndrome. Genetic Testing. 6: 1-6. PMID 12180070 DOI: 10.1089/109065702760093843 |
0.707 |
|
| 2002 |
Villard L, Fontes M. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). European Journal of Human Genetics : Ejhg. 10: 223-5. PMID 12032728 DOI: 10.1038/Sj.Ejhg.5200800 |
0.658 |
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| 2002 |
Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. European Journal of Human Genetics : Ejhg. 10: 86-9. PMID 11896461 DOI: 10.1038/Sj.Ejhg.5200761 |
0.426 |
|
| 2002 |
Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Journal of Medical Genetics. 39: 113-7. PMID 11836360 DOI: 10.1136/Jmg.39.2.113 |
0.47 |
|
| 2002 |
Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. American Journal of Human Genetics. 70: 1003-8. PMID 11822025 DOI: 10.1086/339433 |
0.442 |
|
| 2001 |
Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. Journal of Medical Genetics. 38: 435-42. PMID 11432961 DOI: 10.1136/Jmg.38.7.435 |
0.716 |
|
| 2000 |
Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, et al. Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? American Journal of Medical Genetics. 95: 178-81. PMID 11078572 DOI: 10.1002/1096-8628(20001113)95:2<178::Aid-Ajmg17>3.0.Co;2-V |
0.71 |
|
| 2000 |
Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology. 55: 1188-93. PMID 11071498 DOI: 10.1212/Wnl.55.8.1188 |
0.665 |
|
| 2000 |
Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. American Journal of Medical Genetics. 94: 386-8. PMID 11050623 DOI: 10.1002/1096-8628(20001023)94:5<386::Aid-Ajmg8>3.0.Co;2-1 |
0.694 |
|
| 2000 |
Laugier-Anfossi F, Villard L. Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain. Gene. 255: 289-96. PMID 11024289 DOI: 10.1016/S0378-1119(00)00326-7 |
0.382 |
|
| 2000 |
Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. Human Genetics. 106: 36-9. PMID 10982179 DOI: 10.1007/S004390051006 |
0.368 |
|
| 2000 |
Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. MECP2 mutations account for most cases of typical forms of Rett syndrome. Human Molecular Genetics. 9: 1377-84. PMID 10814719 DOI: 10.1093/Hmg/9.9.1377 |
0.716 |
|
| 2000 |
Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. European Journal of Human Genetics : Ejhg. 8: 125-9. PMID 10757644 DOI: 10.1038/Sj.Ejhg.5200432 |
0.667 |
|
| 2000 |
Villard L, Fontès M, Adès LC, Gecz J. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. American Journal of Medical Genetics. 91: 83-5. PMID 10751095 DOI: 10.1002/(Sici)1096-8628(20000306)91:1<83::Aid-Ajmg15>3.0.Co;2-N |
0.471 |
|
| 1999 |
Lévy N, Bernard-Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontés M. A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis. Human Mutation. 14: 448. PMID 10533076 DOI: 10.1002/(Sici)1098-1004(199911)14:5<448::Aid-Humu15>3.0.Co;2-Q |
0.327 |
|
| 1999 |
Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J. Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. Journal of Medical Genetics. 36: 754-8. PMID 10528854 DOI: 10.1136/Jmg.36.10.754 |
0.386 |
|
| 1999 |
Villard L, Fontès M, Ewbank JJ. Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene. Gene. 236: 13-9. PMID 10433961 DOI: 10.1016/S0378-1119(99)00279-6 |
0.405 |
|
| 1999 |
Lossi AM, Millán JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontés M, MartÃnez F. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. American Journal of Human Genetics. 65: 558-62. PMID 10417298 DOI: 10.1086/302499 |
0.396 |
|
| 1999 |
Villard L, Belougne J, Lossi AM, Fontés M, Colleaux L. Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene. Gene. 235: 43-50. PMID 10415331 DOI: 10.1016/S0378-1119(99)00217-6 |
0.41 |
|
| 1999 |
Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M, Curtis M. Carpenter-Waziri syndrome results from a mutation in XNP. American Journal of Medical Genetics. 85: 249-51. PMID 10398237 DOI: 10.1002/(Sici)1096-8628(19990730)85:3<249::Aid-Ajmg12>3.0.Co;2-U |
0.416 |
|
| 1999 |
Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, ... ... Villard L, et al. Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997. American Journal of Medical Genetics. 83: 221-36. PMID 10208154 DOI: 10.1002/(Sici)1096-8628(19990402)83:4<221::Aid-Ajmg1>3.0.Co;2-K |
0.357 |
|
| 1999 |
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Journal of Medical Genetics. 36: 183-6. PMID 10204841 DOI: 10.1136/Jmg.36.3.183 |
0.444 |
|
| 1999 |
Tassone F, Villard L, Clancy K, Gardiner K. Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes. Gene. 226: 211-23. PMID 9931491 DOI: 10.1016/S0378-1119(98)00559-9 |
0.356 |
|
| 1998 |
Villard L, Tassone F, Crnogorac-Jurcević T, Clancy K, Gardiner K. Analysis of pufferfish homologues of the AT-rich human APP gene. Gene. 210: 17-24. PMID 9599080 DOI: 10.1016/S0378-1119(98)00032-8 |
0.379 |
|
| 1998 |
Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Human Molecular Genetics. 7: 679-84. PMID 9499421 DOI: 10.1093/Hmg/7.4.679 |
0.428 |
|
| 1997 |
Villard L, Tassone F, Haymowicz M, Welborn R, Gardiner K. Map location, genomic organization and expression patterns of the human RED1 RNA editase. Somatic Cell and Molecular Genetics. 23: 135-45. PMID 9330641 DOI: 10.1007/Bf02679972 |
0.359 |
|
| 1997 |
Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C. A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. American Journal of Human Genetics. 61: 233-8. PMID 9246006 DOI: 10.1016/S0002-9297(07)64297-9 |
0.373 |
|
| 1997 |
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. Genomics. 43: 149-55. PMID 9244431 DOI: 10.1006/Geno.1997.4793 |
0.481 |
|
| 1996 |
Villard L, Lacombe D, Fontés M. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. European Journal of Human Genetics : Ejhg. 4: 316-20. PMID 9043863 DOI: 10.1159/000472225 |
0.421 |
|
| 1996 |
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. American Journal of Medical Genetics. 64: 97-106. PMID 8826458 DOI: 10.1002/(Sici)1096-8628(19960712)64:1<97::Aid-Ajmg17>3.0.Co;2-N |
0.424 |
|
| 1996 |
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. American Journal of Human Genetics. 58: 499-505. PMID 8644709 |
0.402 |
|
| 1996 |
Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S. XNP mutation in a large family with Juberg-Marsidi syndrome. Nature Genetics. 12: 359-60. PMID 8630485 DOI: 10.1038/Ng0496-359 |
0.406 |
|
| 1996 |
Lacombe D, Villard L, Fontès M. Retard mental syndromique et mutations dans le gene XNP Archives De PéDiatrie. 3: S377. DOI: 10.1016/0929-693X(96)86155-0 |
0.666 |
|
| 1995 |
Villard L, Passage E, Colleaux L, Fontes M. Use of interspersed repetitive sequences-PCR products for cDNA selection. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 6: 617-22. PMID 8535069 DOI: 10.1007/Bf00352368 |
0.638 |
|
| 1995 |
Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Construction of a YAC contig spanning the Xq13.3 subband. Genomics. 26: 115-22. PMID 7782069 DOI: 10.1016/0888-7543(95)80089-5 |
0.678 |
|
| 1995 |
Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 80: 837-45. PMID 7697714 DOI: 10.1016/0092-8674(95)90287-2 |
0.44 |
|
| 1994 |
Gecz J, Pollard H, Consalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M. Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Human Molecular Genetics. 3: 39-44. PMID 8162050 DOI: 10.1093/Hmg/3.1.39 |
0.447 |
|
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