Jonveaux P - Search Results

1

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Agopiantz M, et al. Among authors: jonveaux p. J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. J Endocrinol Invest. 2014. PMID: 24464444 Review.

2

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

Sloan-Béna F, Philippe C, LeHeup B, Wuilque F, Levy ER, Chéry M, Jonveaux P, Monaco AP. Sloan-Béna F, et al. Among authors: jonveaux p. J Med Genet. 1998 Feb;35(2):146-50. doi: 10.1136/jmg.35.2.146. J Med Genet. 1998. PMID: 9507395 Free PMC article.

3

Terminal deletion of the long arm of chromosome 10.

Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B. Scigliano S, et al. Among authors: jonveaux ph. Clin Genet. 2004 Apr;65(4):294-8. doi: 10.1111/j.1399-0004.2004.00218.x. Clin Genet. 2004. PMID: 15025722 Review.

4

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome.

Latger-Cannard V, Bensoussan D, Grégoire MJ, Marcon F, Cloez JL, Leheup B, Jonveaux P, Lecompte T, Bordigoni P. Latger-Cannard V, et al. Among authors: jonveaux p. Eur J Pediatr. 2004 Jun;163(6):327-8. doi: 10.1007/s00431-004-1426-9. Eur J Pediatr. 2004. PMID: 15346916 No abstract available.

5

[Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities].

Béri-Dexheimer M, Bonnet C, Chambon P, Brochet K, Grégoire MJ, Jonveaux P. Béri-Dexheimer M, et al. Among authors: jonveaux p. Pathol Biol (Paris). 2007 Feb;55(1):13-8. doi: 10.1016/j.patbio.2006.04.002. Epub 2006 May 11. Pathol Biol (Paris). 2007. PMID: 16697120 Review. French.

6

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. J Hum Genet. 2006;51(9):815. doi: 10.1007/s10038-006-0023-3. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900295

7

Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.

Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P. Béri-Deixheimer M, et al. Among authors: jonveaux p. Eur J Hum Genet. 2007 Apr;15(4):446-52. doi: 10.1038/sj.ejhg.5201784. Epub 2007 Feb 7. Eur J Hum Genet. 2007. PMID: 17290276

8

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.

Mosca AL, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F. Mosca AL, et al. Among authors: jonveaux p. Am J Med Genet A. 2007 Jun 15;143A(12):1342-7. doi: 10.1002/ajmg.a.31742. Am J Med Genet A. 2007. PMID: 17506096

9

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. Béri-Dexheimer M, et al. Among authors: jonveaux p. Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478040

10

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. J Hum Genet. 2008;53(10):876-885. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651096

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