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Results: 1 to 20 of 33

1.

Presentation and treatment of subfertile men with balanced translocations: the cleveland clinic experience.

Ching CB, Ko E, Hecht B, Smith M, Sabanegh E.

Curr Urol. 2012 May;6(1):37-42. doi: 10.1159/000338868. Epub 2012 Apr 30.

PMID:
24917708
[PubMed]
Free PMC Article
2.

Beyond the zebrafish: diverse fish species for modeling human disease.

Schartl M.

Dis Model Mech. 2014 Feb;7(2):181-92. doi: 10.1242/dmm.012245. Epub 2013 Nov 21.

PMID:
24271780
[PubMed - in process]
Free PMC Article
3.

A p53 enhancer region regulates target genes through chromatin conformations in cis and in trans.

Link N, Kurtz P, O'Neal M, Garcia-Hughes G, Abrams JM.

Genes Dev. 2013 Nov 15;27(22):2433-8. doi: 10.1101/gad.225565.113.

PMID:
24240233
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Role of SOX9 in the Etiology of Pierre-Robin Syndrome.

R S, A MP.

Iran J Basic Med Sci. 2013 May;16(5):700-4.

PMID:
23826492
[PubMed]
Free PMC Article
5.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM.

BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.

PMID:
23648064
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19.

PMID:
23603273
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.

Fantauzzo KA, Kurban M, Levy B, Christiano AM.

PLoS Genet. 2012;8(11):e1003002. doi: 10.1371/journal.pgen.1003002. Epub 2012 Nov 1.

PMID:
23133399
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A misplaced lncRNA causes brachydactyly in humans.

Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S.

J Clin Invest. 2012 Nov 1;122(11):3990-4002. doi: 10.1172/JCI65508. Epub 2012 Oct 24.

PMID:
23093776
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical Utility Gene Card for: campomelic dysplasia.

Scherer G, Zabel B, Nishimura G.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.228. Epub 2012 Oct 10. No abstract available.

PMID:
23047745
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.

Liao HM, Fang JS, Chen YJ, Wu KL, Lee KF, Chen CH.

BMC Med Genet. 2011 May 20;12:70. doi: 10.1186/1471-2350-12-70.

PMID:
21595979
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A.

PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793.

PMID:
21408189
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mild Campomelic Dysplasia: Report on a Case and Review.

Corbani S, Chouery E, Eid B, Jalkh N, Ghoch JA, Mégarbané A.

Mol Syndromol. 2011 Jan;1(4):163-168. Epub 2011 Jan 10.

PMID:
21373255
[PubMed]
Free PMC Article
14.

Analysis of early human neural crest development.

Betters E, Liu Y, Kjaeldgaard A, Sundström E, García-Castro MI.

Dev Biol. 2010 Aug 15;344(2):578-92. doi: 10.1016/j.ydbio.2010.05.012. Epub 2010 May 15.

PMID:
20478300
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, Otero M, Tsuchimochi K, Goldring MB, Luft FC, Bähring S.

Hum Mol Genet. 2010 Mar 1;19(5):848-60. doi: 10.1093/hmg/ddp553. Epub 2009 Dec 16.

PMID:
20015959
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Prdm16 is required for normal palatogenesis in mice.

Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR.

Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 11.

PMID:
20007998
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Machida J, Félix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T.

Cleft Palate Craniofac J. 2009 Sep;46(5):532-40. doi: 10.1597/08-047.1. Epub 2009 Feb 2.

PMID:
19929093
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.

de Vree PJ, Simon ME, van Dooren MF, Stoevelaar GH, Hilkmann JT, Rongen MA, Huijbregts GC, Verkerk AJ, Poddighe PJ.

Mol Cytogenet. 2009 Jul 13;2:15. doi: 10.1186/1755-8166-2-15.

PMID:
19594915
[PubMed]
Free PMC Article
19.

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G.

J Med Genet. 2009 Dec;46(12):834-9. doi: 10.1136/jmg.2009.067785. Epub 2009 Jul 2.

PMID:
19578035
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The impact of genomic neighborhood on the evolution of human and chimpanzee transcriptome.

De S, Teichmann SA, Babu MM.

Genome Res. 2009 May;19(5):785-94. doi: 10.1101/gr.086165.108. Epub 2009 Feb 19.

PMID:
19233772
[PubMed - indexed for MEDLINE]
Free PMC Article

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