Philippe C - Search Results

1

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: philippe c. 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

2

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

Abbadi N, Philippe C, Chery M, Gilgenkrantz H, Tome F, Collin H, Theau D, Recan D, Broux O, Fardeau M, et al. Abbadi N, et al. Among authors: philippe c. Am J Med Genet. 1994 Aug 15;52(2):198-206. doi: 10.1002/ajmg.1320520215. Am J Med Genet. 1994. PMID: 7802009

3

Monosomy 21q: two cases of del(21q) and review of the literature.

Huret JL, Léonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, Labrune B, Gilgenkrantz S. Huret JL, et al. Among authors: philippe c. Clin Genet. 1995 Sep;48(3):140-7. doi: 10.1111/j.1399-0004.1995.tb04074.x. Clin Genet. 1995. PMID: 8556821 Review.

4

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.

Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. Bione S, et al. Among authors: philippe c. Am J Hum Genet. 1998 Mar;62(3):533-41. doi: 10.1086/301761. Am J Hum Genet. 1998. PMID: 9497258 Free PMC article.

5

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: philippe c. 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.

6

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: philippe c. Hum Mol Genet. 1999 Sep;8(9):1741-9. doi: 10.1093/hmg/8.9.1741. Hum Mol Genet. 1999. PMID: 10441338

7

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: philippe c. J Am Soc Nephrol. 2000 Nov;11(11):2062-2067. doi: 10.1681/ASN.V11112062. J Am Soc Nephrol. 2000. PMID: 11053482

8

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: philippe c. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

9

Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation.

Martel-Petit V, Petit C, Marchand M, Fleurentin A, Fontaine B, Miton A, Lemarie P, Philippe C, Jonveaux P. Martel-Petit V, et al. Among authors: philippe c. Prenat Diagn. 2001 Feb;21(2):106-11. doi: 10.1002/1097-0223(200102)21:2<106::aid-pd983>3.0.co;2-#. Prenat Diagn. 2001. PMID: 11241536

10

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: philippe c. Ann Genet. 2001 Oct-Dec;44(4):191-4. doi: 10.1016/s0003-3995(01)01088-7. Ann Genet. 2001. PMID: 11755104

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