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Items: 1 to 20 of 116

1.

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A.

Clin Genet. 2003 Jul;64(1):28-35.

PMID:
12791036
2.

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.

Nat Genet. 2000 Apr;24(4):438-41.

PMID:
10742114
4.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471.

PMID:
20503311
5.

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.

Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.

Clin Genet. 2004 Jul;66(1):67-72.

PMID:
15200511
6.

Mutated MESP2 causes spondylocostal dysostosis in humans.

Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD.

Am J Hum Genet. 2004 Jun;74(6):1249-54. Epub 2004 Apr 30.

7.

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Whittock NV, Turnpenny PD, Tuerlings J, Ellard S.

Prenat Diagn. 2003 Jul;23(7):575-9.

PMID:
12868087
8.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.

Am J Hum Genet. 1999 Jul;65(1):175-82.

9.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.

PMID:
17460281
10.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL.

Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20.

11.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
12.

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.

Haagerup A, Hertz JM, Christensen MF, Binderup H, Kruse TA.

Eur J Hum Genet. 2000 Jun;8(6):431-6.

13.

Identical twins with an autosomal recessive form of spondylocostal dysostosis.

Satar M, Kozanoglu MN, Atilla E.

Clin Genet. 1992 Jun;41(6):290-2.

PMID:
1623623
14.

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL.

Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5.

15.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER.

BMC Med Genet. 2004 Sep 24;5:24.

16.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J.

Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10700184
17.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

18.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER.

Am J Hum Genet. 2002 Sep;71(3):632-6. Epub 2002 Jul 24.

19.
20.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H.

Hum Mutat. 2007 Jul;28(7):718-23.

PMID:
17373699
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