| Year |
Citation |
Score |
| 2023 |
Courraud J, Engel C, Quartier A, Drouot N, Houessou U, Plassard D, Sorlin A, Brischoux-Boucher E, Gouy E, Van Maldergem L, Rossi M, Lesca G, Edery P, Putoux A, Bilan F, ... ... Mandel JL, et al. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry. PMID 38030819 DOI: 10.1038/s41380-023-02323-5 |
0.351 |
|
| 2020 |
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, ... ... Mandel JL, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics. PMID 32738225 DOI: 10.1016/J.Ajhg.2020.06.016 |
0.379 |
|
| 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 |
0.33 |
|
| 2020 |
Agote-Aran A, Schmucker S, Jerabkova K, Jmel Boyer I, Berto A, Pacini L, Ronchi P, Kleiss C, Guerard L, Schwab Y, Moine H, Mandel JL, Jacquemont S, Bagni C, Sumara I. Spatial control of nucleoporin condensation by fragile X-related proteins. The Embo Journal. e104467. PMID 32706158 DOI: 10.15252/Embj.2020104467 |
0.378 |
|
| 2020 |
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, ... ... Mandel JL, et al. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 32197073 DOI: 10.1016/J.Ajhg.2020.02.013 |
0.386 |
|
| 2019 |
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, ... ... Mandel JL, et al. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. American Journal of Human Genetics. PMID 31422817 DOI: 10.1016/J.Ajhg.2019.07.010 |
0.339 |
|
| 2019 |
Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, Gecz J, Mandel JL, et al. Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Human Mutation. PMID 31184401 DOI: 10.1002/Humu.23836 |
0.365 |
|
| 2018 |
Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M, et al. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. Jama Neurology. PMID 29913018 DOI: 10.1001/Jamaneurol.2018.1478 |
0.31 |
|
| 2018 |
Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, ... ... Mandel JL, et al. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. European Journal of Human Genetics : Ejhg. PMID 29695756 DOI: 10.1038/S41431-018-0096-4 |
0.38 |
|
| 2017 |
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C, Chelly J, Mandel JL, et al. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America. PMID 29078390 DOI: 10.1073/Pnas.1713625114 |
0.388 |
|
| 2017 |
Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, ... ... Mandel JL, et al. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. European Journal of Human Genetics : Ejhg. PMID 28176767 DOI: 10.1038/Ejhg.2016.204 |
0.425 |
|
| 2016 |
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, ... Mandel JL, et al. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. American Journal of Human Genetics. PMID 27939639 DOI: 10.1016/j.ajhg.2016.11.010 |
0.352 |
|
| 2016 |
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Riviere JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, ... ... Mandel JL, et al. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. Prenatal Diagnosis. PMID 27862069 DOI: 10.1002/Pd.4965 |
0.391 |
|
| 2016 |
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, ... ... Mandel JL, et al. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. American Journal of Medical Genetics. Part A. PMID 27256868 DOI: 10.1002/Ajmg.A.37765 |
0.391 |
|
| 2016 |
Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E, Krężel W, Alunni V, Koebel P, Dembélé D, Tassone F, Bardoni B, Mandel JL, Vitale N, Muller D, et al. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proceedings of the National Academy of Sciences of the United States of America. PMID 27233938 DOI: 10.1073/Pnas.1522631113 |
0.674 |
|
| 2016 |
Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. American Journal of Medical Genetics. Part A. 170: 1626-9. PMID 27061120 DOI: 10.1002/Ajmg.A.37645 |
0.389 |
|
| 2016 |
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, ... ... Mandel JL, et al. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet Journal of Rare Diseases. 11: 26. PMID 27004399 DOI: 10.1186/S13023-016-0408-0 |
0.366 |
|
| 2016 |
Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. Journal of Human Genetics. PMID 26763875 DOI: 10.1038/Jhg.2015.162 |
0.424 |
|
| 2015 |
de Angelis MH, Nicholson G, Selloum M, White JK, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, ... ... Mandel JL, et al. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nature Genetics. PMID 26214591 DOI: 10.1038/Ng.3360 |
0.37 |
|
| 2015 |
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, ... ... Mandel JL, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg. PMID 25920557 DOI: 10.1038/Ejhg.2015.29 |
0.426 |
|
| 2015 |
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, ... ... Mandel J, et al. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.6 |
0.431 |
|
| 2014 |
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, ... ... Mandel JL, et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain : a Journal of Neurology. 137: 3160-70. PMID 25260562 DOI: 10.1093/Brain/Awu272 |
0.443 |
|
| 2014 |
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, ... ... Mandel JL, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Journal of Medical Genetics. 51: 724-36. PMID 25167861 DOI: 10.1136/Jmedgenet-2014-102554 |
0.458 |
|
| 2014 |
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FAC, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation Brain. 137: 411-419. PMID 24369382 DOI: 10.1093/brain/awt338 |
0.309 |
|
| 2014 |
Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, ... ... Mandel JL, et al. 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. European Journal of Human Genetics : Ejhg. 22: 776-83. PMID 24169519 DOI: 10.1038/Ejhg.2013.243 |
0.443 |
|
| 2013 |
Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. American Journal of Human Genetics. 93: 368-83. PMID 23871722 DOI: 10.1016/J.Ajhg.2013.06.013 |
0.447 |
|
| 2013 |
Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Böhm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, ... Mandel JL, et al. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. European Journal of Human Genetics : Ejhg. 21: 637-42. PMID 23092955 DOI: 10.1038/Ejhg.2012.226 |
0.413 |
|
| 2012 |
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, ... Mandel JL, et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. Journal of Medical Genetics. 49: 502-12. PMID 22773737 DOI: 10.1136/Jmedgenet-2012-100875 |
0.447 |
|
| 2012 |
Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathologica. 124: 273-83. PMID 22526018 DOI: 10.1007/S00401-012-0982-8 |
0.419 |
|
| 2012 |
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Mandel JL, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067 |
0.417 |
|
| 2011 |
Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J. Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. The American Journal of Pathology. 178: 2224-35. PMID 21514436 DOI: 10.1016/J.Ajpath.2011.01.054 |
0.317 |
|
| 2011 |
Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nature Genetics. 43: 306-8. PMID 21378989 DOI: 10.1038/Ng.778 |
0.432 |
|
| 2011 |
Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, ... ... Mandel JL, et al. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. American Journal of Medical Genetics. Part A. 155: 98-105. PMID 21204215 DOI: 10.1002/Ajmg.A.33785 |
0.393 |
|
| 2011 |
Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, ... ... Mandel JL, et al. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. European Journal of Medical Genetics. 54: 157-60. PMID 21044901 DOI: 10.1016/J.Ejmg.2010.10.004 |
0.387 |
|
| 2011 |
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathologica. 121: 253-66. PMID 20927630 DOI: 10.1007/S00401-010-0754-2 |
0.342 |
|
| 2010 |
Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, ... ... Mandel JL, et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Human Genetics. 127: 583-93. PMID 20177705 DOI: 10.1007/S00439-010-0804-9 |
0.433 |
|
| 2010 |
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Human Molecular Genetics. 19: 1399-412. PMID 20080938 DOI: 10.1093/Hmg/Ddq015 |
0.385 |
|
| 2010 |
Friedrich A, Garnier N, Gagnière N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deléage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O. SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. Human Mutation. 31: 127-35. PMID 19921752 DOI: 10.1002/Humu.21155 |
0.397 |
|
| 2009 |
Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscular Disorders : Nmd. 19: 255-60. PMID 19303295 DOI: 10.1016/J.Nmd.2009.02.003 |
0.448 |
|
| 2009 |
Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proceedings of the National Academy of Sciences of the United States of America. 106: 1820-5. PMID 19190184 DOI: 10.1073/Pnas.0812518106 |
0.304 |
|
| 2008 |
Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Human Molecular Genetics. 17: 2132-43. PMID 18434328 DOI: 10.1093/Hmg/Ddn112 |
0.302 |
|
| 2008 |
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, ... ... Mandel JL, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. American Journal of Human Genetics. 82: 661-72. PMID 18319074 DOI: 10.1016/J.Ajhg.2007.12.024 |
0.444 |
|
| 2007 |
Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscular Disorders : Nmd. 17: 955-9. PMID 17825552 DOI: 10.1016/J.Nmd.2007.06.467 |
0.425 |
|
| 2007 |
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nature Genetics. 39: 1134-9. PMID 17676042 DOI: 10.1038/Ng2086 |
0.405 |
|
| 2007 |
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, ... ... Mandel JL, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. American Journal of Human Genetics. 80: 1-11. PMID 17160889 DOI: 10.1086/510256 |
0.434 |
|
| 2007 |
Toussaint A, Nicot A, Dondaine N, Kretz C, Poirson C, Zanoteli E, Wallgren-Pettersson C, Echaniz-Laguna A, Ousager LB, Krause A, Jern C, Merlini L, Oliveira A, Biancalana V, Mandel J, et al. C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy Neuromuscular Disorders. 17: 881. DOI: 10.1016/J.Nmd.2007.06.400 |
0.335 |
|
| 2007 |
Nicot A, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier J, Biancalana V, Mandel J, Laporte J. C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form Neuromuscular Disorders. 17: 833. DOI: 10.1016/J.Nmd.2007.06.242 |
0.373 |
|
| 2006 |
Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. MéDecine Sciences : M/S. 22: 901-4. PMID 17101080 DOI: 10.1051/Medsci/20062211901 |
0.346 |
|
| 2006 |
Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Human Molecular Genetics. 15: 3098-106. PMID 17008356 DOI: 10.1093/Hmg/Ddl250 |
0.454 |
|
| 2006 |
Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. European Journal of Human Genetics : Ejhg. 14: 1195-203. PMID 16823392 DOI: 10.1038/Sj.Ejhg.5201688 |
0.439 |
|
| 2006 |
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, ... ... Mandel JL, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38: 521-4. PMID 16582908 DOI: 10.1038/Ng1771 |
0.464 |
|
| 2006 |
Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, ... Mandel JL, et al. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. European Journal of Human Genetics : Ejhg. 14: 418-25. PMID 16493439 DOI: 10.1038/Sj.Ejhg.5201593 |
0.437 |
|
| 2006 |
Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, Weber C, Mérienne K, Mandel JL, Poch O, Devys D, Trottier Y. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Human Molecular Genetics. 15: 691-703. PMID 16434483 DOI: 10.1093/Hmg/Ddi483 |
0.37 |
|
| 2006 |
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. Journal of Human Genetics. 51: 81-4. PMID 16308660 DOI: 10.1007/S10038-005-0320-2 |
0.393 |
|
| 2006 |
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, ... ... Mandel J, et al. Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nature Genetics. 38: 727-727. DOI: 10.1038/Ng0606-727 |
0.302 |
|
| 2006 |
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, ... ... Mandel J, et al. Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nature Genetics. 38: 727-727. DOI: 10.1038/Ng0606-721 |
0.355 |
|
| 2005 |
Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, ... ... Mandel JL, et al. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. European Journal of Human Genetics : Ejhg. 13: 607-16. PMID 15770229 DOI: 10.1038/Sj.Ejhg.5201372 |
0.426 |
|
| 2005 |
Castets M, Schaeffer C, Bechara E, Schenck A, Khandjian EW, Luche S, Moine H, Rabilloud T, Mandel JL, Bardoni B. FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Human Molecular Genetics. 14: 835-44. PMID 15703194 DOI: 10.1093/Hmg/Ddi077 |
0.678 |
|
| 2005 |
Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. American Journal of Medical Genetics. Part A. 134: 338-40. PMID 15690409 DOI: 10.1002/Ajmg.A.30574 |
0.349 |
|
| 2004 |
Helmlinger D, Bonnet J, Mandel JL, Trottier Y, Devys D. Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice. The Journal of Biological Chemistry. 279: 55969-77. PMID 15494410 DOI: 10.1074/Jbc.M409062200 |
0.335 |
|
| 2004 |
Schenck A, Qurashi A, Carrera P, Bardoni B, Diebold C, Schejter E, Mandel JL, Giangrande A. WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Developmental Biology. 274: 260-70. PMID 15385157 DOI: 10.1016/J.Ydbio.2004.07.009 |
0.646 |
|
| 2004 |
Biancalana V, Beldjord C, Taillandier A, Szpiro-Tapia S, Cusin V, Gerson F, Philippe C, Mandel JL, Voelckel MA, Guiochon-Mantel A, Doco-Fenzy M, Prieur F, Lesca G, Taine L, Bonnefont JP, et al. Five years of molecular diagnosis of fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in France American Journal of Medical Genetics. 129: 218-224. PMID 15326620 DOI: 10.1002/Ajmg.A.30237 |
0.369 |
|
| 2004 |
Mandel JL, Chelly J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. European Journal of Human Genetics : Ejhg. 12: 689-93. PMID 15319782 DOI: 10.1038/Sj.Ejhg.5201247 |
0.411 |
|
| 2004 |
Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Human Molecular Genetics. 13: 1257-65. PMID 15115762 DOI: 10.1093/Hmg/Ddh139 |
0.334 |
|
| 2004 |
Helmlinger D, Abou-Sleymane G, Yvert G, Rousseau S, Weber C, Trottier Y, Mandel JL, Devys D. Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 1881-7. PMID 14985428 DOI: 10.1523/Jneurosci.4407-03.2004 |
0.354 |
|
| 2004 |
Tronchère H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, Mandel JL, Payrastre B. Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. The Journal of Biological Chemistry. 279: 7304-12. PMID 14660569 DOI: 10.1074/Jbc.M311071200 |
0.316 |
|
| 2003 |
Bardoni B, Willemsen R, Weiler IJ, Schenck A, Severijnen LA, Hindelang C, Lalli E, Mandel JL. NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Experimental Cell Research. 289: 95-107. PMID 12941608 DOI: 10.1016/S0014-4827(03)00222-2 |
0.671 |
|
| 2003 |
Bardoni B, Castets M, Huot ME, Schenk A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL. 82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization Human Molecular Genetics. 12: 1689-1698. PMID 12837692 DOI: 10.1093/Hmg/Ddg181 |
0.664 |
|
| 2003 |
Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, Giangrande A. CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron. 38: 887-98. PMID 12818175 DOI: 10.1016/S0896-6273(03)00354-4 |
0.68 |
|
| 2003 |
Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. American Journal of Human Genetics. 72: 454-64. PMID 12529854 DOI: 10.1086/367713 |
0.407 |
|
| 2003 |
Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics. 112: 135-42. PMID 12522554 DOI: 10.1007/S00439-002-0869-1 |
0.434 |
|
| 2002 |
Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proceedings of the National Academy of Sciences of the United States of America. 99: 15060-5. PMID 12391329 DOI: 10.1073/Pnas.212498399 |
0.315 |
|
| 2002 |
Buj-Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Human Molecular Genetics. 11: 2297-307. PMID 12217958 DOI: 10.1093/Hmg/11.19.2297 |
0.337 |
|
| 2002 |
Bardoni B, Mandel JL. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Current Opinion in Genetics & Development. 12: 284-93. PMID 12076671 DOI: 10.1016/S0959-437X(02)00300-3 |
0.699 |
|
| 2002 |
Laporte J, Liaubet L, Blondeau F, Tronchère H, Mandel JL, Payrastre B. Functional redundancy in the myotubularin family. Biochemical and Biophysical Research Communications. 291: 305-12. PMID 11846405 DOI: 10.1006/Bbrc.2002.6445 |
0.443 |
|
| 2002 |
Moine H, Mandel JL. Biomedicine. Do G quartets orchestrate fragile X pathology? Science (New York, N.Y.). 294: 2487-8. PMID 11752559 DOI: 10.1126/Science.1068352 |
0.418 |
|
| 2002 |
Bardoni B, Schenck A, Mandel JL. The Fragile X mental retardation protein. Brain Research Bulletin. 56: 375-82. PMID 11719275 DOI: 10.1016/S0361-9230(01)00647-5 |
0.425 |
|
| 2001 |
Dorchies OM, Laporte J, Wagner S, Hindelang C, Warter J, Mandel J, Poindron P. Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. Neuromuscular Disorders. 11: 736-746. PMID 11595516 DOI: 10.1016/S0960-8966(01)00221-8 |
0.311 |
|
| 2001 |
Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nature Reviews. Genetics. 2: 669-80. PMID 11533716 DOI: 10.1038/35088558 |
0.434 |
|
| 2001 |
Schaeffer C, Bardoni B, Mandel J, Ehresmann B, Ehresmann C, Moine H. The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. The Embo Journal. 20: 4803-4813. PMID 11532944 DOI: 10.1093/Emboj/20.17.4803 |
0.353 |
|
| 2001 |
Yvert G, Lindenberg KS, Devys D, Helmlinger D, Landwehrmeyer GB, Mandel JL. SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Human Molecular Genetics. 10: 1679-92. PMID 11487572 DOI: 10.1093/Hmg/10.16.1679 |
0.354 |
|
| 2001 |
Laporte J, Kress W, Mandel J. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Annals of Neurology. 50: 42-46. PMID 11456308 DOI: 10.1002/Ana.1033 |
0.453 |
|
| 2001 |
Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proceedings of the National Academy of Sciences of the United States of America. 98: 8844-9. PMID 11438699 DOI: 10.1073/Pnas.151231598 |
0.39 |
|
| 2001 |
Devys D, Yvert G, Lunkes A, Trottier Y, Mandel JL. Pathological mechanisms in polyglutamine expansion diseases. Advances in Experimental Medicine and Biology. 487: 199-210. PMID 11403159 DOI: 10.1007/978-1-4615-1249-3_16 |
0.366 |
|
| 2001 |
Laporte J, Blondeau F, Buj-Bello A, Mandel J. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends in Genetics. 17: 221-228. PMID 11275328 DOI: 10.1016/S0168-9525(01)02245-4 |
0.393 |
|
| 2000 |
Bardoni B, Mandel J, Fisch GS. FMR1 gene and fragile X syndrome. American Journal of Medical Genetics. 97: 153-163. PMID 11180223 DOI: 10.1002/1096-8628(200022)97:2<153::Aid-Ajmg7>3.0.Co;2-M |
0.414 |
|
| 2000 |
Pujol A, Troffer-Charlier N, Metzger E, Chimini G, Mandel J. Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. Genomics. 70: 131-139. PMID 11087670 DOI: 10.1006/Geno.2000.6367 |
0.351 |
|
| 2000 |
Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, et al. 9th international workshop on fragile X syndrome and X-linked mental retardation. American Journal of Medical Genetics. 94: 345-60. PMID 11050616 DOI: 10.1002/1096-8628(20001023)94:5<345::Aid-Ajmg1>3.0.Co;2-Z |
0.314 |
|
| 2000 |
Yvert G, Lindenberg KS, Picaud S, Landwehrmeyer GB, Sahel JA, Mandel JL. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Human Molecular Genetics. 9: 2491-506. PMID 11030754 DOI: 10.1093/Hmg/9.17.2491 |
0.328 |
|
| 2000 |
Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel J. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway Human Molecular Genetics. 9: 2223-2229. PMID 11001925 DOI: 10.1093/Oxfordjournals.Hmg.A018913 |
0.388 |
|
| 2000 |
Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren‐Pettersson C, Herger F, Buj‐Bello A, Blondeau F, Liechti‐Gallati S, Mandel J. MTM1 mutations in X-linked myotubular myopathy Human Mutation. 15: 393-409. PMID 10790201 DOI: 10.1002/(Sici)1098-1004(200005)15:5<393::Aid-Humu1>3.0.Co;2-R |
0.43 |
|
| 1999 |
Buj‐Bello A, Biancalana V, Moutou C, Laporte J, Mandel J. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Human Mutation. 14: 320-325. PMID 10502779 DOI: 10.1002/(Sici)1098-1004(199910)14:4<320::Aid-Humu7>3.0.Co;2-O |
0.439 |
|
| 1999 |
Lunkes A, Trottier Y, Mandel JL. Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases. Essays in Biochemistry. 33: 149-63. PMID 10488448 DOI: 10.1042/Bse0330149 |
0.415 |
|
| 1999 |
Lunkes A, Trottier Y, Fagart J, Schultz P, Zeder-Lutz G, Moras D, Mandel JL. Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 354: 1013-9. PMID 10434300 DOI: 10.1098/Rstb.1999.0453 |
0.408 |
|
| 1999 |
Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics. 22: 13-4. PMID 10319851 DOI: 10.1038/8719 |
0.348 |
|
| 1999 |
Trottier Y, Cancel G, An-Gourfinkel I, Lutz Y, Weber C, Brice A, Hirsch E, Mandel JL. Heterogeneous intracellular localization and expression of ataxin-3. Neurobiology of Disease. 5: 335-47. PMID 10069576 DOI: 10.1006/Nbdi.1998.0208 |
0.375 |
|
| 1998 |
Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. American Journal of Human Genetics. 63: 1631-40. PMID 9837815 DOI: 10.1086/302153 |
0.434 |
|
| 1998 |
Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. European Journal of Human Genetics : Ejhg. 6: 325-30. PMID 9781038 DOI: 10.1038/sj.ejhg.5200189 |
0.331 |
|
| 1998 |
Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel J. Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human Human Molecular Genetics. 7: 1703-1712. PMID 9736772 DOI: 10.1093/Hmg/7.11.1703 |
0.441 |
|
| 1998 |
Lunkes A, Mandel J. A Cellular Model That Recapitulates Major Pathogenic Steps of Huntington's Disease Human Molecular Genetics. 7: 1355-1361. PMID 9700187 DOI: 10.1093/Hmg/7.9.1355 |
0.33 |
|
| 1998 |
Troffer-Charlier N, Doerflinger N, Metzger E, Fouquet F, Mandel JL, Aubourg P. Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines. European Journal of Cell Biology. 75: 254-64. PMID 9587057 DOI: 10.1016/S0171-9335(98)80121-0 |
0.323 |
|
| 1998 |
Koenig M, Mandel JL. Deciphering the cause of Friedreich ataxia. Current Opinion in Neurobiology. 7: 689-94. PMID 9384553 DOI: 10.1016/S0959-4388(97)80090-6 |
0.338 |
|
| 1997 |
Toti F, Schindler V, Riou J, Lombard-Platet G, Fressinaud E, Meyer D, Uzan A, Pecq JL, Mandel J, Freyssinet J. Another link between phospholipid transmembrane migration and ABC transporter gene family, inferred from a rare inherited disorder of phosphatidylserine externalization. Biochemical and Biophysical Research Communications. 241: 548-552. PMID 9425308 DOI: 10.1006/Bbrc.1997.7836 |
0.381 |
|
| 1997 |
Gourfinkel-An I, Cancel G, Trottier Y, Devys D, Tora L, Lutz Y, Imbert G, Saudou F, Stevanin G, Agid Y, Brice A, Mandel JL, Hirsch EC. Differential distribution of the normal and mutated forms of huntingtin in the human brain. Annals of Neurology. 42: 712-9. PMID 9392570 DOI: 10.1002/Ana.410420507 |
0.64 |
|
| 1997 |
David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, ... ... Mandel JL, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genetics. 17: 65-70. PMID 9288099 DOI: 10.1038/Ng0997-65 |
0.66 |
|
| 1997 |
Gouyon BMd, Zhao W, Laporte J, Mandel J, Metzenberg A, Herman GE. Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy Human Molecular Genetics. 6: 1499-1504. PMID 9285787 DOI: 10.1093/Hmg/6.9.1499 |
0.441 |
|
| 1997 |
Moutou C, Vincent M, Biancalana V, Mandel J. Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic Human Molecular Genetics. 6: 971-979. PMID 9215664 DOI: 10.1093/Hmg/6.7.971 |
0.339 |
|
| 1997 |
Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J, Koenig M. Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations Proceedings of the National Academy of Sciences of the United States of America. 94: 7452-7457. PMID 9207112 DOI: 10.1073/Pnas.94.14.7452 |
0.402 |
|
| 1997 |
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, ... ... Mandel JL, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Human Molecular Genetics. 6: 709-15. PMID 9158145 DOI: 10.1093/Hmg/6.5.709 |
0.635 |
|
| 1997 |
Albet S, Causeret C, Bentejac M, Mandel JL, Aubourg P, Maurice B. Fenofibrate differently alters expression of genes encoding ATP-binding transporter proteins of the peroxisomal membrane. Febs Letters. 405: 394-7. PMID 9108325 DOI: 10.1016/S0014-5793(97)00122-1 |
0.338 |
|
| 1997 |
Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature. 384: 567-70. PMID 8955270 DOI: 10.1038/384567A0 |
0.451 |
|
| 1997 |
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, ... ... Mandel J, et al. Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion Neuromuscular Disorders. 7: 467. DOI: 10.1016/S0960-8966(97)87325-7 |
0.639 |
|
| 1996 |
Saudou F, Devys D, Trottier Y, Imbert G, Stoeckel ME, Brice A, Mandel JL. Polyglutamine expansions and neurodegenerative diseases. Cold Spring Harbor Symposia On Quantitative Biology. 61: 639-47. PMID 9246490 DOI: 10.1101/Sqb.1996.061.01.064 |
0.516 |
|
| 1996 |
Stevanin G, Trottier Y, Cancel G, Dürr A, David G, Didierjean O, Bürk K, Imbert G, Saudou F, Abada-Bendib M, Gourfinkel-An I, Benomar A, Abbas N, Klockgether T, Grid D, ... ... Mandel JL, et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Human Molecular Genetics. 5: 1887-92. PMID 8968739 DOI: 10.1093/Hmg/5.12.1887 |
0.636 |
|
| 1996 |
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genetics. 14: 285-91. PMID 8896557 DOI: 10.1038/Ng1196-285 |
0.679 |
|
| 1996 |
Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns J.- P, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Seventh International Workshop on the Fragile X and X-linked mental retardation American Journal of Medical Genetics. 64: 1-14. PMID 8826442 DOI: 10.1002/(Sici)1096-8628(19960712)64:1<1::Aid-Ajmg1>3.0.Co;2-Z |
0.311 |
|
| 1996 |
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J, Brice A, Koenig M. Clinical And Genetic Abnormalities In Patients With Friedreich'S Ataxia The New England Journal of Medicine. 335: 1169-1175. PMID 8815938 DOI: 10.1056/Nejm199610173351601 |
0.394 |
|
| 1996 |
Sittler A, Devys D, Weber C, Mandel J. Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms Human Molecular Genetics. 5: 95-102. PMID 8789445 DOI: 10.1093/Hmg/5.1.95 |
0.428 |
|
| 1996 |
Hu LJ, Laporte J, Kioschis P, Heyberger S, Kretz C, Poustka A, Mandel JL, Dahi N. X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers. Human Genetics. 98: 178-81. PMID 8698337 DOI: 10.1007/S004390050185 |
0.373 |
|
| 1996 |
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genetics. 13: 175-82. PMID 8640223 DOI: 10.1038/Ng0696-175 |
0.459 |
|
| 1996 |
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, ... ... Mandel JL, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (New York, N.Y.). 271: 1423-7. PMID 8596916 DOI: 10.1126/Science.271.5254.1423 |
0.445 |
|
| 1996 |
Lombard-Platet G, Savary S, Sarde C, Mandel J, Chimini G. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern Proceedings of the National Academy of Sciences of the United States of America. 93: 1265-1269. PMID 8577752 DOI: 10.1073/Pnas.93.3.1265 |
0.423 |
|
| 1996 |
Imbert G, Saudou F, Yvert G, Mandel J, Cancel G, Brice A. Dernière heure : Maladies neurodégénératives par expansion de polyglutamines : le sixième gène cloné (SCA2) MéDecine/Sciences. 12: 1463. DOI: 10.4267/10608/700 |
0.535 |
|
| 1995 |
Nadal N, Rolland M, Tranchant C, Reutenauer L, Gyapay G, Warter J, Mandel J, Kœnig M. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family Human Molecular Genetics. 4: 1963-1966. PMID 8595422 DOI: 10.1093/Hmg/4.10.1963 |
0.331 |
|
| 1995 |
Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X. De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Human Genetics. 95: 235-7. PMID 7860075 DOI: 10.1007/Bf00209412 |
0.312 |
|
| 1995 |
Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genetics. 10: 104-10. PMID 7647777 DOI: 10.1038/Ng0595-104 |
0.646 |
|
| 1995 |
Khandjian EW, Anny F, Thibodeau A, Tremblay S, Côt́ F, Devys D, Mandel JL, Rousseau F. A heterogeneous set of fmr1 proteins is widely distributed in mouse tissues and is modulated in cell culture Human Molecular Genetics. 4: 783-789. PMID 7633436 DOI: 10.1093/Hmg/4.5.783 |
0.367 |
|
| 1995 |
Fujita T, Mandel J, Shirasawa T, Hino O, Shirai T, Maruyama N. Isolation of cDNA clone encoding human homologue of senescence marker protein-30 (SMP30) and its location on the X chromosome Biochimica Et Biophysica Acta. 1263: 249-252. PMID 7548213 DOI: 10.1016/0167-4781(95)00120-6 |
0.363 |
|
| 1995 |
Imbert G, Mandel J. The fragile X mutation Mental Retardation and Developmental Disabilities Research Reviews. 1: 251-262. DOI: 10.1002/Mrdd.1410010405 |
0.446 |
|
| 1994 |
Chery M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A. Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint. Human Genetics. 93: 587-91. PMID 8168840 DOI: 10.1007/Bf00202829 |
0.363 |
|
| 1994 |
Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL. Genomic organization of the adrenoleukodystrophy gene. Genomics. 22: 13-20. PMID 7959759 DOI: 10.1006/Geno.1994.1339 |
0.397 |
|
| 1994 |
Hu L, Blumenfeld-Heyberger S, Hanauer A, Weissenbach J, Mandel J. Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. American Journal of Medical Genetics. 51: 569-574. PMID 7943041 DOI: 10.1002/Ajmg.1320510455 |
0.349 |
|
| 1994 |
Trottier Y, Imbert G, Poustka A, Fryns J, Mandel J. Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region American Journal of Medical Genetics. 51: 454-457. PMID 7943018 DOI: 10.1002/Ajmg.1320510431 |
0.419 |
|
| 1994 |
Mosser J, Sarde C, Vicaire S, Yates JRW, Mandel J. A New Human Gene (DXS1357E) with Ubiquitous Expression, Located in Xq28 Adjacent to the Adrenoleukodystrophy Gene Genomics. 22: 469-471. PMID 7806238 DOI: 10.1006/Geno.1994.1413 |
0.357 |
|
| 1993 |
Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nature Genetics. 4: 72-6. PMID 8513329 DOI: 10.1038/Ng0593-72 |
0.377 |
|
| 1993 |
Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 361: 726-30. PMID 8441467 DOI: 10.1038/361726A0 |
0.408 |
|
| 1993 |
Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genetics. 4: 335-40. PMID 8401578 DOI: 10.1038/Ng0893-335 |
0.438 |
|
| 1993 |
Cartier N, Sarde C, Douar A, Mosser J, Mandel j, Aubourg P. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy Human Molecular Genetics. 2: 1949-1951. PMID 7904210 DOI: 10.1093/Hmg/2.11.1949 |
0.444 |
|
| 1993 |
Duclos F, Boschert U, Sirugo G, Mandel JL, Hen R, Koenig M. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Proceedings of the National Academy of Sciences of the United States of America. 90: 109-13. PMID 7678331 DOI: 10.1073/Pnas.90.1.109 |
0.572 |
|
| 1992 |
Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Methylation and mutation patterns in the fragile X syndrome. American Journal of Medical Genetics. 43: 268-78. PMID 1605200 DOI: 10.1002/Ajmg.1320430142 |
0.397 |
|
| 1992 |
Mandel JL, Heitz D. Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation. Current Opinion in Genetics & Development. 2: 422-30. PMID 1504617 DOI: 10.1016/S0959-437X(05)80153-4 |
0.462 |
|
| 1992 |
Mandel JL, Monaco AP, Nelson DL, Schlessinger D, Willard H. Genome analysis and the human X chromosome. Science (New York, N.Y.). 258: 103-9. PMID 1439756 DOI: 10.1126/Science.1439756 |
0.326 |
|
| 1992 |
Oudet C, Hanauer A, Clemens P, Caskey T, Mandel J. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions Human Molecular Genetics. 1: 599-603. PMID 1363782 DOI: 10.1093/Hmg/1.8.599 |
0.374 |
|
| 1992 |
Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel J, Boué A. Direct DNA analysis of fragile X syndrome in Spanish pedigrees. American Journal of Medical Genetics. 43: 282-290. PMID 1351363 DOI: 10.1002/Ajmg.1320430144 |
0.347 |
|
| 1992 |
Rousseau F, Heitz D, Mandel J. The unstable and methylatable mutations causing the fragile X syndrome. Human Mutation. 1: 91-96. PMID 1301206 DOI: 10.1002/Humu.1380010202 |
0.398 |
|
| 1992 |
Mandel J, Heitz D. Molecular genetics of the fragile-X syndrome: A novel type of unstable mutation selected Current Biology. 2: 382. DOI: 10.1016/0960-9822(92)90081-K |
0.386 |
|
| 1991 |
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas M, Mandel J. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome Science. 252: 1097-1102. PMID 2031184 DOI: 10.1126/Science.252.5009.1097 |
0.414 |
|
| 1990 |
Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel J. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia Proceedings of the National Academy of Sciences of the United States of America. 87: 1796-1800. PMID 1968638 DOI: 10.1073/Pnas.87.5.1796 |
0.361 |
|
| 1989 |
Arveiler B, Vincent A, Mandel J. Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region. Genomics. 4: 460-471. PMID 2501212 DOI: 10.1016/0888-7543(89)90269-3 |
0.341 |
|
| 1988 |
Amar LC, Dandolo L, Hanauer A, Cook AR, Arnaud D, Mandel JL, Avner P. Conservation and reorganization of loci on the mammalian X chromosome: A molecular framework for the identification of homologous subchromosomal regions in man and mouse Genomics. 2: 220-230. PMID 2899541 DOI: 10.1016/0888-7543(88)90006-7 |
0.311 |
|
| 1988 |
Moisan JP, Mattei MG, Mandel JL. Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers. Human Genetics. 79: 168-71. PMID 2899054 DOI: 10.1007/Bf00280558 |
0.334 |
|
| 1987 |
Heilig R, Lemaire C, Mandel JL, Dandolo L, Amar L, Avner P. Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Nature. 328: 168-70. PMID 3600794 DOI: 10.1038/328168A0 |
0.452 |
|
| 1985 |
Oberle I, Drayna D, Camerino G, White R, Mandel J. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proceedings of the National Academy of Sciences of the United States of America. 82: 2824-2828. PMID 2986139 DOI: 10.1073/Pnas.82.9.2824 |
0.331 |
|
| 1984 |
Koenig M, Camerino G, Heilig R, Mandel J. A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm Nucleic Acids Research. 12: 4097-4109. PMID 6728677 DOI: 10.1093/Nar/12.10.4097 |
0.327 |
|
| 1982 |
Heilig R, Muraskowsky R, Mandel J. The ovalbumin gene family: The 5′ end region of the X and Y genes Journal of Molecular Biology. 156: 1-19. PMID 6178832 DOI: 10.1016/0022-2836(82)90455-7 |
0.377 |
|
| 1981 |
MANDEL J. GENE STRUCTURE AND EXPRESSION IN THE OVALBUMIN GENE FAMILY Biochemical Society Transactions. 9: 31P-31P. DOI: 10.1042/Bst009031P |
0.32 |
|
| Show low-probability matches. |