Philip N - Search Results

1

Wolf-Hirschhorn (4P-) syndrome in adults.

Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F, Sigaudy S, Missirian C, Philip N, Fryns JP. Marcelis C, et al. Among authors: philip n. Genet Couns. 2001;12(1):35-48. Genet Couns. 2001. PMID: 11332977 Review.

2

Costello syndrome.

Philip N, Sigaudy S. Philip N, et al. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.

3

Neonatal death in Marshall-Smith syndrome.

Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: philip n. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581

4

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Nguyen K, Sigaudy S, Philip N. Nguyen K, et al. Among authors: philip n. Am J Med Genet A. 2003 Aug 30;121A(2):109-12. doi: 10.1002/ajmg.a.20186. Am J Med Genet A. 2003. PMID: 12910487

5

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA. Chauve X, et al. Among authors: philip n. Am J Med Genet. 2000 Nov 6;95(1):10-2. doi: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11074487

6

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N. Bretelle F, et al. Among authors: philip n. Eur J Med Genet. 2010 Nov-Dec;53(6):367-70. doi: 10.1016/j.ejmg.2010.07.008. Epub 2010 Jul 24. Eur J Med Genet. 2010. PMID: 20659598

7

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. Missirian C, et al. Among authors: philip n. Am J Med Genet. 2000 Dec 11;95(4):358-60. Am J Med Genet. 2000. PMID: 11186890

8

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. Philip N, et al. Am J Med Genet A. 2005 Apr 1;134A(1):39-44. doi: 10.1002/ajmg.a.30468. Am J Med Genet A. 2005. PMID: 15732060

9

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M. Philip N, et al. Clin Dysmorphol. 1995 Oct;4(4):347-51. doi: 10.1097/00019605-199510000-00011. Clin Dysmorphol. 1995. PMID: 8574426

10

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, Philip N, Rizzo R, Schrander J, Pfeiffer L, et al. Schrander-Stumpel C, et al. Among authors: philip n. Eur J Pediatr. 1994 Jun;153(6):438-45. doi: 10.1007/BF01983409. Eur J Pediatr. 1994. PMID: 8088300

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