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Results: 1 to 20 of 106

1.

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Tamura M, Hosoya M, Fujita M, Iida T, Amano T, Maeno A, Kataoka T, Otsuka T, Tanaka S, Tomizawa S, Shiroishi T.

Hum Mol Genet. 2013 Jun 15;22(12):2471-81. doi: 10.1093/hmg/ddt099. Epub 2013 Feb 27.

PMID:
23449628
[PubMed - indexed for MEDLINE]
Free Article
2.

The Hand2 gene dosage effect in developmental defects and human congenital disorders.

Tamura M, Amano T, Shiroishi T.

Curr Top Dev Biol. 2014;110:129-52. doi: 10.1016/B978-0-12-405943-6.00003-8.

PMID:
25248475
[PubMed - in process]
3.

Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.

Huang T, Lin AE, Cox GF, Golden WL, Feldman GL, Ute M, Schrander-Stumpel C, Kamisago M, Vermeulen SJ.

Genet Med. 2002 Nov-Dec;4(6):464-7.

PMID:
12509719
[PubMed - indexed for MEDLINE]
4.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

PMID:
23342975
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW.

Am J Med Genet A. 2012 Mar;158A(3):635-40. doi: 10.1002/ajmg.a.34425. Epub 2012 Feb 2.

PMID:
22302627
[PubMed - indexed for MEDLINE]
6.

Cardiac neural crest expression of Hand2 regulates outflow and second heart field development.

Morikawa Y, Cserjesi P.

Circ Res. 2008 Dec 5;103(12):1422-9. doi: 10.1161/CIRCRESAHA.108.180083. Epub 2008 Nov 13.

PMID:
19008477
[PubMed - indexed for MEDLINE]
Free Article
7.

[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome].

Carrascosa Romero MC, García Mialdea O, Vidal Company A, Cabezas Tapia ME, Gonzálvez Piñera J.

An Pediatr (Barc). 2008 Apr;68(4):361-4. Review. Spanish.

PMID:
18394381
[PubMed - indexed for MEDLINE]
Free Article
8.

Gene replacement strategies to test the functional redundancy of basic helix-loop-helix transcription factor.

Firulli AB, Firulli BA, Wang J, Rogers RH, Conway SJ.

Pediatr Cardiol. 2010 Apr;31(3):438-48. doi: 10.1007/s00246-010-9669-x. Epub 2010 Feb 14. Review.

PMID:
20155416
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.

Li H, Cherry S, Klinedinst D, DeLeon V, Redig J, Reshey B, Chin MT, Sherman SL, Maslen CL, Reeves RH.

Circ Cardiovasc Genet. 2012 Jun;5(3):301-8. doi: 10.1161/CIRCGENETICS.111.960872. Epub 2012 Apr 20.

PMID:
22523272
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Partial trisomy 4q and preaxial limb defects.

Lurie IW.

Am J Med Genet A. 2005 Oct 15;138A(3):304-5. No abstract available.

PMID:
16158438
[PubMed - indexed for MEDLINE]
11.

Loss of Apaf-1 leads to partial rescue of the HAND2-null phenotype.

Aiyer AR, Honarpour N, Herz J, Srivastava D.

Dev Biol. 2005 Feb 1;278(1):155-62.

PMID:
15649468
[PubMed - indexed for MEDLINE]
Free Article
12.

The spectrum of 4q- syndrome illustrated by a case series.

Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T.

Gene. 2012 Sep 15;506(2):387-91. doi: 10.1016/j.gene.2012.06.087. Epub 2012 Jul 3.

PMID:
22771923
[PubMed - indexed for MEDLINE]
13.

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA.

Clin Dysmorphol. 2006 Jul;15(3):127-32.

PMID:
16760729
[PubMed - indexed for MEDLINE]
14.

Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.

Villanueva MP, Aiyer AR, Muller S, Pletcher MT, Liu X, Emanuel B, Srivastava D, Reeves RH.

Genomics. 2002 Dec;80(6):593-600.

PMID:
12504851
[PubMed - indexed for MEDLINE]
15.

A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

Zhao F, Bosserhoff AK, Buettner R, Moser M.

PLoS One. 2011;6(7):e22908. doi: 10.1371/journal.pone.0022908. Epub 2011 Jul 29.

PMID:
21829553
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes.

Vacík T, Ort M, Gregorová S, Strnad P, Blatny R, Conte N, Bradley A, Bures J, Forejt J.

Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4500-5. Epub 2005 Mar 8.

PMID:
15755806
[PubMed - indexed for MEDLINE]
Free PMC Article
17.
18.

DNA binding-dependent and -independent functions of the Hand2 transcription factor during mouse embryogenesis.

Liu N, Barbosa AC, Chapman SL, Bezprozvannaya S, Qi X, Richardson JA, Yanagisawa H, Olson EN.

Development. 2009 Mar;136(6):933-42. doi: 10.1242/dev.034025. Epub 2009 Feb 11.

PMID:
19211672
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

Chrast R, Scott HS, Madani R, Huber L, Wolfer DP, Prinz M, Aguzzi A, Lipp HP, Antonarakis SE.

Hum Mol Genet. 2000 Jul 22;9(12):1853-64.

PMID:
10915774
[PubMed - indexed for MEDLINE]
Free Article
20.

Distal trisomy 10q and limb defects.

Lurie IW.

Ann Genet. 2002 Jul-Sep;45(3):127-9.

PMID:
12381442
[PubMed - indexed for MEDLINE]

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