Baverel F - Search Results

1

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E. Dupont C, et al. Among authors: baverel f. Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. Am J Med Genet A. 2008. PMID: 18925677 No abstract available.

2

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM. Dupont C, et al. Among authors: baverel f. Am J Med Genet A. 2007 Jun 1;143A(11):1236-43. doi: 10.1002/ajmg.a.31744. Am J Med Genet A. 2007. PMID: 17497716

3

Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

Leclercq S, Auger J, Dupont C, Le Tessier D, Lebbar A, Baverel F, Dupont JM, Eustache F. Leclercq S, et al. Among authors: baverel f. Eur J Med Genet. 2010 May-Jun;53(3):127-32. doi: 10.1016/j.ejmg.2010.03.003. Epub 2010 Mar 17. Eur J Med Genet. 2010. PMID: 20302980

4

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

Lebbar A, Callier P, Baverel F, Marle N, Patrat C, Le Tessier D, Mugneret F, Dupont JM. Lebbar A, et al. Among authors: baverel f. Am J Med Genet A. 2008 Oct 15;146A(20):2651-6. doi: 10.1002/ajmg.a.32499. Am J Med Genet A. 2008. PMID: 18798330

5

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM. Leclercq S, et al. Among authors: baverel f. Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640. Am J Med Genet A. 2009. PMID: 19206177

6

Pure familial 6q21q22.1 duplication in two generations.

Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM. Pazooki M, et al. Among authors: baverel f. Eur J Med Genet. 2007 Jan-Feb;50(1):60-5. doi: 10.1016/j.ejmg.2006.09.002. Epub 2006 Sep 28. Eur J Med Genet. 2007. PMID: 17071147

7

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report.

Lebbar A, Viot G, Szpiro-Tapia S, Baverel F, Rabineau D, Dupont JM. Lebbar A, et al. Among authors: baverel f. Prenat Diagn. 2002 Nov;22(11):973-5. doi: 10.1002/pd.444. Prenat Diagn. 2002. PMID: 12424758

8

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

Dupont JM, Le Tessier D, Baverel F, Rouffet A, Rabineau D. Dupont JM, et al. Among authors: baverel f. Fetal Diagn Ther. 1997 Sep-Oct;12(5):283-5. doi: 10.1159/000264486. Fetal Diagn Ther. 1997. PMID: 9430209 Review.

9

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Dodé C, et al. Among authors: baverel f. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230

10

[Turner syndrome and nodular regenerative hyperplasia of the liver].

Thevenot T, Dhote R, Tulliez M, Baverel F, Permal S, Rabineau D, Christoforov B. Thevenot T, et al. Among authors: baverel f. Ann Med Interne (Paris). 1998 Sep;149(5):295-6. Ann Med Interne (Paris). 1998. PMID: 9791565 French.

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