Nouchy M - Search Results

1

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A. Guilherme R, et al. Among authors: nouchy m. Am J Med Genet A. 2009 Dec;149A(12):2892-7. doi: 10.1002/ajmg.a.33135. Am J Med Genet A. 2009. PMID: 19938079 No abstract available.

2

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.

Portnoï MF, Boutchneï S, Bouscarat F, Morlier G, Nizard S, Dersarkissian H, Crickx B, Nouchy M, Taillemite JL, Belaich S. Portnoï MF, et al. Among authors: nouchy m. J Med Genet. 1999 Mar;36(3):246-50. J Med Genet. 1999. PMID: 10204855 Free PMC article.

3

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. Portnoï MF, et al. Among authors: nouchy m. Clin Genet. 2000 Aug;58(2):116-22. doi: 10.1034/j.1399-0004.2000.580205.x. Clin Genet. 2000. PMID: 11005144

4

Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.

Guediche N, Tosca L, Nouchy M, Lecerf L, Cornet D, Brisset S, Goossens M, Tachdjian G. Guediche N, et al. Among authors: nouchy m. Eur J Med Genet. 2012 Dec;55(12):737-42. doi: 10.1016/j.ejmg.2012.09.002. Epub 2012 Sep 24. Eur J Med Genet. 2012. PMID: 23017438 Free article.

5

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

Mosca AL, Callier P, Masurel-Paulet A, Thauvin-Robinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L. Mosca AL, et al. Among authors: nouchy m. Am J Med Genet A. 2010 May;152A(5):1314-7. doi: 10.1002/ajmg.a.33254. Am J Med Genet A. 2010. PMID: 20425843 No abstract available.

6

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Sanlaville D, et al. Among authors: nouchy m. Am J Med Genet A. 2004 Jul 30;128A(3):325-30. doi: 10.1002/ajmg.a.30115. Am J Med Genet A. 2004. PMID: 15216557

7

Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature.

Vialard F, Nouchy M, Malan V, Taillemite JL, Selva J, Portnoï MF. Vialard F, et al. Among authors: nouchy m. Fertil Steril. 2006 Oct;86(4):1001.e1-5. doi: 10.1016/j.fertnstert.2006.01.061. Fertil Steril. 2006. PMID: 17027365 Free article. Review.

8

Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction.

El Mouatassim S, Becker M, Kuzio S, Ronsin C, Gil S, Nouchy M, Druard L, Forestier F. El Mouatassim S, et al. Among authors: nouchy m. Fetal Diagn Ther. 2004 Nov-Dec;19(6):496-503. doi: 10.1159/000080162. Fetal Diagn Ther. 2004. PMID: 15539874

9

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".

Chatron N, Raymond L, Schluth-Bolard C, Bardel C, Huissoud C, Nouchy M, Sanlaville D, Massoud M. Chatron N, et al. Among authors: nouchy m. Prenat Diagn. 2019 Jun;39(7):571-572. doi: 10.1002/pd.5456. Epub 2019 May 20. Prenat Diagn. 2019. PMID: 31106873 No abstract available.

10

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. Kherraf ZE, et al. Among authors: nouchy m. Am J Hum Genet. 2022 Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15. Am J Hum Genet. 2022. PMID: 35172124 Free PMC article.

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