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298 results

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Page 1
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: sanlaville d. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24. Eur J Med Genet. 2008. PMID: 18255367
[New chromosomal syndromes].
Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674648
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C. Sanlaville D, et al. Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.
Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Michel-Calemard L, Rafat A, Zabot MT, Nicolino M, Guibaud L, Edery P. Schluth-Bolard C, et al. Among authors: sanlaville d. Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772. Am J Med Genet A. 2009. PMID: 19504602 No abstract available.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J. Schluth-Bolard C, et al. Among authors: sanlaville d. Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6. Eur J Med Genet. 2009. PMID: 19505601 Free article.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Schiff M, et al. Among authors: sanlaville d. Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3. Eur J Med Genet. 2010. PMID: 20599530
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.
Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P. Roll P, et al. Among authors: sanlaville d. PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750. PLoS One. 2010. PMID: 21060786 Free PMC article.
298 results