Philippe C - Search Results

1

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Lefebvre M, et al. Among authors: philippe c. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732226

2

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.

Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL. Feil R, et al. Among authors: philippe c. Am J Hum Genet. 1991 Dec;49(6):1361-71. Am J Hum Genet. 1991. PMID: 1746561 Free PMC article.

3

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Chery M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A. Chery M, et al. Among authors: philippe c. Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829. Hum Genet. 1994. PMID: 8168840

4

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.

5

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

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

7

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

8

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

9

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: philippe c. 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.

10

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: philippe c. Eur J Hum Genet. 2002 Aug;10(8):462-6. doi: 10.1038/sj.ejhg.5200833. Eur J Hum Genet. 2002. PMID: 12111640

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