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Page 1
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, Mugneret F. Faivre L, et al. Among authors: turleau c. Prenat Diagn. 2004 May;24(5):393-5. doi: 10.1002/pd.891. Prenat Diagn. 2004. PMID: 15164417
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: turleau c. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
Functional disomy of the Xq28 chromosome region.
Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: turleau c. Eur J Hum Genet. 2005 May;13(5):579-85. doi: 10.1038/sj.ejhg.5201384. Eur J Hum Genet. 2005. PMID: 15741994 Review.
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C. Sanlaville D, et al. Among authors: turleau c. 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.
A CGH study of 27 patients with CHARGE association.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Among authors: turleau c. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088
180 results