Jonveaux P - Search Results

1

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C. Allou L, et al. Among authors: jonveaux p. Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27. Eur J Hum Genet. 2012. PMID: 22739344 Free PMC article.

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

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P. Arnould C, et al. Among authors: jonveaux p. Hum Mol Genet. 1999 Sep;8(9):1741-9. doi: 10.1093/hmg/8.9.1741. Hum Mol Genet. 1999. PMID: 10441338

4

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. Bienvenu T, et al. Among authors: jonveaux p. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719

5

Polymorphism of angiotensin converting enzyme, angiotensinogen, and angiotensin II type 1 receptor genes and end-stage renal failure in IgA nephropathy: IGARAS--a study of 274 Men.

Frimat L, Philippe C, Maghakian MN, Jonveaux P, DE Ligny BH, Guillemin F, Kessler M. Frimat L, et al. Among authors: jonveaux p. J Am Soc Nephrol. 2000 Nov;11(11):2062-2067. doi: 10.1681/ASN.V11112062. J Am Soc Nephrol. 2000. PMID: 11053482

6

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

7

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. Ann Genet. 2001 Oct-Dec;44(4):191-4. doi: 10.1016/s0003-3995(01)01088-7. Ann Genet. 2001. PMID: 11755104

8

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. J Med Genet. 2001 Dec;38(12):867-71. doi: 10.1136/jmg.38.12.867. J Med Genet. 2001. PMID: 11768391 Free PMC article. No abstract available.

9

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes.

Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux P. Rahil H, et al. Among authors: jonveaux p. Eur J Hum Genet. 2002 Aug;10(8):462-6. doi: 10.1038/sj.ejhg.5200833. Eur J Hum Genet. 2002. PMID: 12111640

10

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Bourdon V, Philippe C, Martin D, Verloès A, Grandemenge A, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. Mol Diagn. 2003;7(1):3-7. doi: 10.1007/BF03260014. Mol Diagn. 2003. PMID: 14529314

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