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Results: 1 to 20 of 100

1.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.

Eur J Hum Genet. 2014 Jun;22(6):741-7. doi: 10.1038/ejhg.2013.229. Epub 2013 Oct 9.

PMID:
24105366
[PubMed - in process]
2.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.

Am J Hum Genet. 2010 Feb 12;86(2):254-61. doi: 10.1016/j.ajhg.2010.01.009. Epub 2010 Feb 4.

PMID:
20137777
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.

Mao M, Thedens DR, Chang B, Harris BS, Zheng QY, Johnson KR, Donahue LR, Anderson MG.

Mamm Genome. 2009 Aug;20(8):462-75. doi: 10.1007/s00335-009-9210-9. Epub 2009 Aug 8.

PMID:
19669234
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome.

van Steensel MA, Ceulen RP, Delhaas T, de Die-Smulders C.

Am J Med Genet A. 2007 Jun 1;143A(11):1223-6.

PMID:
17480005
[PubMed - indexed for MEDLINE]
5.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AO, Johnson D.

BMC Med Genet. 2012 Nov 9;13:104. doi: 10.1186/1471-2350-13-104.

PMID:
23140272
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.

Mao M, Solivan-Timpe F, Roos BR, Mullins RF, Oetting TA, Kwon YH, Brzeskiewicz PM, Stone EM, Alward WL, Anderson MG, Fingert JH.

Mol Vis. 2012;18:705-13. Epub 2012 Mar 26.

PMID:
22509100
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H.

Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4.

PMID:
20137778
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.

Mao M, Hedberg-Buenz A, Koehn D, John SW, Anderson MG.

Invest Ophthalmol Vis Sci. 2011 Apr 1;52(5):2679-88. doi: 10.1167/iovs.10-5993. Print 2011 Apr.

PMID:
21282566
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM.

Brain. 2002 Dec;125(Pt 12):2681-90.

PMID:
12429595
[PubMed - indexed for MEDLINE]
Free Article
10.

Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.

Bögel G, Gujdár A, Geiszt M, Lányi Á, Fekete A, Sipeki S, Downward J, Buday L.

J Biol Chem. 2012 Sep 7;287(37):31321-9. doi: 10.1074/jbc.M111.324897. Epub 2012 Jul 24.

PMID:
22829589
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.

Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009.

PMID:
20691403
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent.

Lucas GJ, Riches PL, Hocking LJ, Cundy T, Nicholson GC, Walsh JP, Ralston SH.

J Bone Miner Res. 2008 Jan;23(1):58-63.

PMID:
17907922
[PubMed - indexed for MEDLINE]
13.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.

Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.

PMID:
20493458
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G.

Am J Hum Genet. 2002 Aug;71(2):426-31. Epub 2002 Jun 19.

PMID:
12075506
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.

Dyack S, Cameron M, Otley A, Greer W.

Genet Med. 2007 Aug;9(8):544-50.

PMID:
17700393
[PubMed - indexed for MEDLINE]
16.

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

Naeem M, Muhammad D, Ahmad W.

Br J Dermatol. 2005 Jul;153(1):46-50.

PMID:
16029325
[PubMed - indexed for MEDLINE]
17.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
18.

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR.

Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.

PMID:
12632327
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.

Brain. 1996 Dec;119 ( Pt 6):1895-909.

PMID:
9009996
[PubMed - indexed for MEDLINE]
Free Article
20.

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.

Hum Genet. 2004 Sep;115(4):302-9.

PMID:
15257456
[PubMed - indexed for MEDLINE]

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