Philip N - Search Results

1

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: philip n. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097

2

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

3

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. Among authors: philip n. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

4

Fryns syndrome: report on 8 new cases.

Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Among authors: philip n. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.

5

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Aymé S, et al. Gilbert-Dussardier B, et al. Among authors: philip n. Am J Hum Genet. 1995 Feb;56(2):542-4. Am J Hum Genet. 1995. PMID: 7847392 Free PMC article. No abstract available.

6

Costello syndrome and facio-cutaneous-skeletal syndrome.

Philip N, Mancini J. Philip N, et al. Am J Med Genet. 1993 Aug 15;47(2):174-5. doi: 10.1002/ajmg.1320470209. Am J Med Genet. 1993. PMID: 8213902 No abstract available.

7

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N. Mancini J, et al. Among authors: philip n. Pediatr Neurol. 1993 May-Jun;9(3):243-6. doi: 10.1016/0887-8994(93)90095-t. Pediatr Neurol. 1993. PMID: 8352861

8

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

Levy-Mozziconacci A, Lacombe D, Leheup B, Wernert F, Rouault F, Philip N. Levy-Mozziconacci A, et al. Among authors: philip n. Arch Pediatr. 1996 Aug;3(8):761-8. doi: 10.1016/0929-693x(96)82157-9. Arch Pediatr. 1996. PMID: 8998528 French.

9

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

10

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: philip n. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147

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