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Results: 17

1.

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.

Habib R, Amin-ud-din M, Ahmad W.

Clin Dysmorphol. 2013 Apr;22(2):47-50. doi: 10.1097/MCD.0b013e32835c6c8c.

PMID:
23238279
[PubMed - indexed for MEDLINE]
2.

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.

Wang B, Sinha T, Jiao K, Serra R, Wang J.

Hum Mol Genet. 2011 Jan 15;20(2):271-85. doi: 10.1093/hmg/ddq462. Epub 2010 Oct 20.

PMID:
20962035
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S.

Hum Mol Genet. 2009 Nov 1;18(21):4013-21. doi: 10.1093/hmg/ddp345. Epub 2009 Jul 29.

PMID:
19640924
[PubMed - indexed for MEDLINE]
Free Article
4.

Pregnancy after preimplantation genetic diagnosis for brachydactyly type B.

Hellani A, Abu-Amero K, Azouri J, Al-Sharif H, Barblet H, El-Akoum S.

Reprod Biomed Online. 2009 Jan;18(1):127-31.

PMID:
19146779
[PubMed - indexed for MEDLINE]
5.

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S.

Am J Hum Genet. 2007 Aug;81(2):388-96. Epub 2007 Jun 8.

PMID:
17668388
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B.

Am J Med Genet A. 2007 Jan 15;143A(2):195-9.

PMID:
17163524
[PubMed - indexed for MEDLINE]
7.

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

Stricker S, Verhey van Wijk N, Witte F, Brieske N, Seidel K, Mundlos S.

Dev Dyn. 2006 Dec;235(12):3456-65.

PMID:
17061261
[PubMed - indexed for MEDLINE]
Free Article
8.

[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].

Yang W, Tan FQ, Sun M, Zeng X, Liu J, Liu GY, Luo HY, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):61-3. Chinese.

PMID:
14767912
[PubMed - indexed for MEDLINE]
9.

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Afzal AR, Jeffery S.

Hum Mutat. 2003 Jul;22(1):1-11.

PMID:
12815588
[PubMed - indexed for MEDLINE]
10.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.

Am J Hum Genet. 2000 Oct;67(4):822-31. Epub 2000 Sep 12.

PMID:
10986040
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.

Nat Genet. 2000 Aug;25(4):419-22.

PMID:
10932186
[PubMed - indexed for MEDLINE]
12.

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.

Nat Genet. 2000 Mar;24(3):275-8.

PMID:
10700182
[PubMed - indexed for MEDLINE]
13.

Brachydactyly type B: case report and further evidence for clinical heterogeneity.

Slavotinek A, Clayton-Smith J.

Clin Dysmorphol. 1999 Jul;8(3):165-71.

PMID:
10457848
[PubMed - indexed for MEDLINE]
14.

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

de Ravel TJ, Berkowitz DE, Wagner JM, Jenkins T.

Clin Dysmorphol. 1999 Jan;8(1):41-5.

PMID:
10327250
[PubMed - indexed for MEDLINE]
15.

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AO.

Am J Hum Genet. 1999 Feb;64(2):578-85.

PMID:
9973296
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML.

Am J Hum Genet. 1999 Feb;64(2):570-7.

PMID:
9973295
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Brachydactyly type B and symphalangism in different members of a Mexican family.

Zavala C, Hernández-Ortíz J, Lisker R.

Ann Genet. 1975 Jun;18(2):131-4.

PMID:
1081366
[PubMed - indexed for MEDLINE]

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