Philip N - Search Results

1

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Among authors: philip n. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.

2

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.

3

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.

4

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

5

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.

6

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

7

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Among authors: philip n. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275

8

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

Demily C, Legallic S, Bou J, Houy-Durand E, Van Amelsvoort T, Zinkstok J, Manouvrier-Hanue S, Vogels A, Drouin-Garraud V, Philip N, Philippe A, Héron D, Sarda P, Petit M, Thibaut F, Frébourg T, Campion D. Demily C, et al. Among authors: philip n. Psychiatr Genet. 2007 Oct;17(5):311-2. doi: 10.1097/YPG.0b013e328133f369. Psychiatr Genet. 2007. PMID: 17728672 No abstract available.

9

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: philip n. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603

10

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Schwinger E, Devriendt K, Rauch A, Philip N. Schwinger E, et al. Among authors: philip n. Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2010.5. Epub 2010 Feb 3. Eur J Hum Genet. 2010. PMID: 20125192 Free PMC article. No abstract available.

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