Jonveaux P - Search Results

1

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

2

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

3

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

4

Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets.

Latger-Cannard V, Philippe C, Jonveaux P, Lecompte T, Favier R. Latger-Cannard V, et al. Among authors: jonveaux p. J Pediatr Hematol Oncol. 2011 Oct;33(7):e264-6. doi: 10.1097/MPH.0b013e31821754ac. J Pediatr Hematol Oncol. 2011. PMID: 21900832

5

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

6

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Bonnet C, Zix C, Grégoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. Am J Med Genet A. 2006 Feb 1;140(3):233-7. doi: 10.1002/ajmg.a.31075. Am J Med Genet A. 2006. PMID: 16411200

7

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.

Huynh MT, Béri-Dexheimer M, Bonnet C, Bronner M, Khan AA, Allou L, Philippe C, Vigneron J, Jonveaux P. Huynh MT, et al. Among authors: jonveaux p. Am J Med Genet A. 2012 Jul;158A(7):1782-4. doi: 10.1002/ajmg.a.35386. Epub 2012 May 29. Am J Med Genet A. 2012. PMID: 22644616 No abstract available.

8

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

9

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.

Bonnet C, Leheup B, Béri M, Philippe C, Grégoire MJ, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858. Am J Med Genet A. 2009. PMID: 19449417

10

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.

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