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Page 1
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: garel c. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Among authors: garel c. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: garel c. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
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, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: garel c. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, Lefebvre M, Quenum-Miraillet G, Chantot-Bastaraud S, Milh M, Bretelle F, Portes VD, Guibaud L, Putoux A, Tsatsaris V, Spodenkiewic M, Layet V, Dard R, Mandelbrot L, Guet A, Moutton S, Gorce M, Nizon M, Vincent M, Beneteau C, Rocchisanni MA, Benachi A, Saada J, Attié-Bitach T, Guilbaud L, Maurice P, Friszer S, Jouannic JM, de Villemeur TB, Moutard ML, Keren B, Héron D. Heide S, et al. Among authors: garel c. Genet Med. 2020 Nov;22(11):1887-1891. doi: 10.1038/s41436-020-0872-8. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565546 Free article.
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Lunati A, Petit A, Lapillonne H, Gameiro C, Saillour V, Garel C, Doummar D, Qebibo L, Aissat A, Fanen P, Bartolucci P, Galactéros F, Funalot B, Burglen L, Mansour-Hendili L. Lunati A, et al. Among authors: garel c. Am J Hematol. 2021 Apr 1;96(4):E121-E123. doi: 10.1002/ajh.26099. Epub 2021 Feb 12. Am J Hematol. 2021. PMID: 33460484 Free article. No abstract available.
243 results