Philip N - Search Results

1

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Demczuk S, Lévy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G, et al. Demczuk S, et al. Among authors: philip n. Hum Genet. 1995 Jul;96(1):9-13. doi: 10.1007/BF00214179. Hum Genet. 1995. PMID: 7607662 Review.

2

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Muscatelli F, et al. Among authors: philip n. Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299. Hum Genet. 1992. PMID: 1551675

3

Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Pellissier MC, Laffage M, Philip N, Passage E, Mattei MG, Mattei JF. Pellissier MC, et al. Among authors: philip n. Hum Genet. 1988 Nov;80(3):277-81. doi: 10.1007/BF01790097. Hum Genet. 1988. PMID: 2973430

4

Clinical and molecular study of DiGeorge sequence.

Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N. Levy-Mozziconacci A, et al. Among authors: philip n. Eur J Pediatr. 1994 Nov;153(11):813-20. doi: 10.1007/BF01972889. Eur J Pediatr. 1994. PMID: 7843195

5

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: philip n. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

6

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Levy A, Demczuk S, Aurias A, Depétris D, Mattei MG, Philip N. Levy A, et al. Among authors: philip n. Hum Mol Genet. 1995 Dec;4(12):2417-9. doi: 10.1093/hmg/4.12.2417. Hum Mol Genet. 1995. PMID: 8634722 No abstract available.

7

Prevalence of 22q11 microdeletion.

Tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Tézenas Du Montcel S, et al. Among authors: philip n. J Med Genet. 1996 Aug;33(8):719. doi: 10.1136/jmg.33.8.719. J Med Genet. 1996. PMID: 8863171 Free PMC article. No abstract available.

8

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?

Lévy A, Michel G, Lemerrer M, Philip N. Lévy A, et al. Among authors: philip n. Am J Med Genet. 1997 Apr 14;69(4):356-9. doi: 10.1002/(sici)1096-8628(19970414)69:4<356::aid-ajmg4>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9098482

9

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: philip n. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

10

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: philip n. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.

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