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101 results

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Page 1
Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.
Holder-Espinasse M, Devisme L, Thomas D, Boute O, Vaast P, Fron D, Herbaux B, Puech F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Among authors: boute o. Am J Med Genet A. 2004 Feb 1;124A(4):417-22. doi: 10.1002/ajmg.a.20359. Am J Med Genet A. 2004. PMID: 14735595 Review.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A. Uctepe E, et al. Among authors: boute o. Eur J Hum Genet. 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2. Epub 2023 Oct 26. Eur J Hum Genet. 2024. PMID: 37880421 Free PMC article.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium. Maillard AM, et al. Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25. Mol Psychiatry. 2015. PMID: 25421402 Free PMC article.
Brachmann-de Lange syndrome: pre- and postnatal findings.
Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP. Manouvrier S, et al. Among authors: boute o. Am J Med Genet. 1996 Mar 29;62(3):268-73. doi: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8882785
[Prenatal diagnosis of osteogenesis imperfecta. Two cases].
Baalbaky I, Manouvrier S, Dufour P, Devismes L, Delzenne A, Boute O, Puech F. Baalbaky I, et al. Among authors: boute o. J Gynecol Obstet Biol Reprod (Paris). 1998 Jan;27(1):44-51. J Gynecol Obstet Biol Reprod (Paris). 1998. PMID: 9583044 Free article. French.
[Trisomy 18: ultrasound aspects. Report of 40 cases].
Brun L, Dufour P, Savary JB, Valat AS, Boute O, Subtil D, Vaast P, Bourgeot P, Manouvrier S, de Martinville B, Puech F. Brun L, et al. Among authors: boute o. Presse Med. 2000 Dec 9;29(38):2082-6. Presse Med. 2000. PMID: 11147045 French.
101 results