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Results: 1 to 20 of 196

Similar articles for PubMed (Select 18671284)

1.

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J.

Am J Med Genet A. 2008 Sep 1;146A(17):2304-7. doi: 10.1002/ajmg.a.32444. No abstract available.

PMID:
18671284
2.

Expanding the clinical spectrum of MYCN-related Feingold syndrome.

Tészás A, Meijer R, Scheffer H, Gyuris P, Kosztolányi G, van Bokhoven H, Kellermayer R.

Am J Med Genet A. 2006 Oct 15;140(20):2254-6. No abstract available.

PMID:
16906565
3.

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG.

Nat Genet. 2005 May;37(5):465-7. Epub 2005 Apr 10.

PMID:
15821734
4.

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP.

Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.

PMID:
18470948
5.

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L.

Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12.

6.

A Feingold syndrome case with previously undescribed features and a new mutation.

Koçak H, Ozaydin E, Köse G, Marcelis CL, Kamsteeg EJ, Ceylaner S.

Genet Couns. 2009;20(3):261-7.

PMID:
19852433
7.

A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.

Chen CP, Lin SP, Chern SR, Wu PS, Chang SD, Ng SH, Liu YP, Su JW, Wang W.

Eur J Med Genet. 2012 Nov;55(11):666-9. doi: 10.1016/j.ejmg.2012.07.003. Epub 2012 Jul 25.

PMID:
22842076
8.

Causes of clinical diversity in human TBX5 mutations.

Huang T, Lock JE, Marshall AC, Basson C, Seidman JG, Seidman CE.

Cold Spring Harb Symp Quant Biol. 2002;67:115-20. No abstract available.

PMID:
12858531
9.

A signal peptide mutation of the arginine vasopressin gene in monozygotic twins.

Boson WL, Sarubi JC, d'Alva CB, Friedman E, Faria D, De Marco L, Wajchenberg B.

Clin Endocrinol (Oxf). 2003 Jan;58(1):108-10.

PMID:
12519420
10.

Feingold syndrome: clinical review and genetic mapping.

Celli J, van Bokhoven H, Brunner HG.

Am J Med Genet A. 2003 Nov 1;122A(4):294-300. Review.

PMID:
14518066
11.

Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.

Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A.

Singapore Med J. 2007 Apr;48(4):e106-8.

12.

Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula.

Layman-Pleet L, Jackson CC, Chou S, Boycott KM.

J Pediatr Surg. 2007 Sep;42(9):E1-3.

PMID:
17848225
13.

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.

van Bever Y, van Hest L, Wolfs R, Tibboel D, van den Hoonaard TL, Gischler SJ.

Am J Med Genet A. 2008 Feb 15;146A(4):500-4. doi: 10.1002/ajmg.a.32169. Review.

PMID:
18203155
14.

Smith-Fineman-Myers syndrome in apparently monozygotic twins.

Guion-Almeida ML, Tabith A Jr, Kokitsu-Nakata NM, Zechi RM.

Am J Med Genet. 1998 Sep 23;79(3):205-8. Review.

PMID:
9788563
15.

Difference in early development of presumed monozygotic twins with Rett syndrome.

Bruck I, Philippart M, Giraldi D, Antoniuk S.

Am J Med Genet. 1991 Jun 15;39(4):415-7.

PMID:
1715129
16.

De novo alpha-actin mutations in monozygotic twins.

Graziano C, Bertini E, Porfirio B.

Clin Genet. 2005 Jul;68(1):91-2. No abstract available.

PMID:
15952992
17.

Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA.

J Med Genet. 2004 Jun;41(6):e87. No abstract available.

18.

Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.

Ashton-Prolla P, Félix TM.

Am J Med Genet. 1997 Jun 27;70(4):353-6.

PMID:
9182773
19.

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

Debeljak M, Zver A, Jazbec J.

Am J Med Genet A. 2009 Feb 15;149A(4):755-9. doi: 10.1002/ajmg.a.32736.

PMID:
19291770
20.

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR.

J Med Genet. 2002 Nov;39(11):852-6. No abstract available.

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