Collot N - Search Results

1

Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study.

Lapierre JM, Cacheux V, Luton D, Collot N, Oury JF, Aurias A, Tachdjian G. Lapierre JM, et al. Among authors: collot n. Prenat Diagn. 2000 Feb;20(2):123-31. doi: 10.1002/(sici)1097-0223(200002)20:2<123::aid-pd762>3.0.co;2-b. Prenat Diagn. 2000. PMID: 10694684

2

Comparative genomic hybridization: technical development and cytogenetic aspects for routine use in clinical laboratories.

Lapierre JM, Cacheux V, Da Silva F, Collot N, Hervy N, Wiss J, Tachdjian G. Lapierre JM, et al. Among authors: collot n. Ann Genet. 1998;41(1):56-62. Ann Genet. 1998. PMID: 9599653

3

Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities.

Lapierre JM, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D, Romana S, Wiss J, Benzaken B, Aurias A, Tachdjian G. Lapierre JM, et al. Among authors: collot n. Ann Genet. 1998;41(3):133-40. Ann Genet. 1998. PMID: 9833066

4

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G. Sanlaville D, et al. Among authors: collot n. Am J Med Genet. 1999 Mar 12;83(2):125-31. doi: 10.1002/(sici)1096-8628(19990312)83:2<125::aid-ajmg8>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10190483 Review.

5

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M. Doco-Fenzy M, et al. Among authors: collot n. Am J Med Genet A. 2006 Feb 1;140(3):212-21. doi: 10.1002/ajmg.a.31057. Am J Med Genet A. 2006. PMID: 16411218

6

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B. Blanchon S, et al. Among authors: collot n. J Med Genet. 2020 Apr;57(4):237-244. doi: 10.1136/jmedgenet-2019-106424. Epub 2019 Nov 26. J Med Genet. 2020. PMID: 31772028

7

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S. El Khouri E, et al. Among authors: collot n. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022. Am J Hum Genet. 2016. PMID: 27486783 Free PMC article.

8

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.

Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, Dastot-Le-Moal F, Goossens M, Taine L, Landais E, Gaillard D, Doco-Fenzy M. Schneider A, et al. Among authors: collot n. Eur J Hum Genet. 2008 Jun;16(6):680-7. doi: 10.1038/sj.ejhg.5201977. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197200

9

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP. Peycelon M, et al. Among authors: collot n. Sex Dev. 2017;11(5-6):293-297. doi: 10.1159/000485909. Epub 2018 Jan 13. Sex Dev. 2017. PMID: 29332064

10

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML. Pérez C, et al. Among authors: collot n. Eur J Endocrinol. 2012 Jul;167(1):85-91. doi: 10.1530/EJE-12-0026. Epub 2012 Apr 24. Eur J Endocrinol. 2012. PMID: 22535646

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