Siffroi JP - Search Results

1

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP. Schwartz M, et al. Among authors: siffroi jp. Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130637

2

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling.

Chantot-Bastaraud S, Siffroi JP, Berkane N, Heim N, Herve F, Uzan S, Vendrely E. Chantot-Bastaraud S, et al. Among authors: siffroi jp. Fetal Diagn Ther. 2003 Mar-Apr;18(2):111-3. doi: 10.1159/000068071. Fetal Diagn Ther. 2003. PMID: 12576746

3

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B. Chantot-Bastaraud S, et al. Among authors: siffroi jp. Ann Genet. 2004 Jul-Sep;47(3):241-9. doi: 10.1016/j.anngen.2004.02.003. Ann Genet. 2004. PMID: 15337469 Review.

4

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

Ravel C, Chantot-Bastaraud S, El Houate B, Mandelbaum J, Siffroi JP, McElreavey K. Ravel C, et al. Among authors: siffroi jp. Fertil Steril. 2006 Jan;85(1):229-31. doi: 10.1016/j.fertnstert.2005.07.1278. Fertil Steril. 2006. PMID: 16412764 Free article.

5

Y chromosome variants and male reproductive function.

McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP. McElreavey K, et al. Among authors: siffroi jp. Int J Androl. 2006 Feb;29(1):298-303; discussion 304-6. doi: 10.1111/j.1365-2605.2005.00637.x. Int J Androl. 2006. PMID: 16466551 Review.

6

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

Ravel C, Chantot-Bastaraud S, Siffroi JP, Escalier D, Antoine JM, Mandelbaum J. Ravel C, et al. Among authors: siffroi jp. Fertil Steril. 2006 Sep;86(3):719.e1-7. doi: 10.1016/j.fertnstert.2005.12.078. Fertil Steril. 2006. PMID: 16952512 Free article.

7

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M. Portnoï MF, et al. Among authors: siffroi jp. Clin Dysmorphol. 2007 Oct;16(4):247-52. doi: 10.1097/MCD.0b013e328235a572. Clin Dysmorphol. 2007. PMID: 17786116

8

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF. Gruchy N, et al. Among authors: siffroi jp. Am J Med Genet A. 2007 Oct 15;143A(20):2417-22. doi: 10.1002/ajmg.a.31931. Am J Med Genet A. 2007. PMID: 17853488

9

[Y chromosome and male infertility: what is a normal Y chromosome?].

McElreavey K, Chantot-Bastaraud S, Ravel C, Mandelbaum J, Siffroi JP. McElreavey K, et al. Among authors: siffroi jp. J Soc Biol. 2008;202(2):135-41. doi: 10.1051/jbio:2008017. Epub 2008 Jun 13. J Soc Biol. 2008. PMID: 18547511 French.

10

Y-chromosome AZFc structural architecture and relationship to male fertility.

Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K. Ravel C, et al. Among authors: siffroi jp. Fertil Steril. 2009 Dec;92(6):1924-33. doi: 10.1016/j.fertnstert.2008.08.135. Epub 2008 Nov 6. Fertil Steril. 2009. PMID: 18990391 Free article.

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