Zabel B - Search Results

1

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD. Holden P, et al. Among authors: zabel b. Am J Hum Genet. 1999 Jul;65(1):31-8. doi: 10.1086/302440. Am J Hum Genet. 1999. PMID: 10364514 Free PMC article.

2

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Among authors: zabel b. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.

3

SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.

Sweetman WA, Rash B, Sykes B, Beighton P, Hecht JT, Zabel B, Thomas JT, Boot-Handford R, Grant ME, Wallis GA. Sweetman WA, et al. Among authors: zabel b. Am J Hum Genet. 1992 Oct;51(4):841-9. Am J Hum Genet. 1992. PMID: 1329505 Free PMC article.

4

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP. Wallis GA, et al. Among authors: zabel b. J Med Genet. 1996 Jun;33(6):450-7. doi: 10.1136/jmg.33.6.450. J Med Genet. 1996. PMID: 8782043 Free PMC article.

5

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. Zankl A, et al. Among authors: zabel b. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 Nov 29. Eur J Hum Genet. 2007. PMID: 17133256 Free PMC article.

6

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.

Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Among authors: zabel b. Am J Med Genet. 1997 Mar 3;69(1):79-84. doi: 10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9066888

7

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.

Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH. Unger SL, et al. Among authors: zabel b. Pediatr Radiol. 2001 Jan;31(1):10-8. doi: 10.1007/s002470000362. Pediatr Radiol. 2001. PMID: 11200990

8

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B. Menger H, et al. Among authors: zabel b. Am J Med Genet. 1996 May 3;63(1):80-3. doi: 10.1002/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723091

9

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

10

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B. Winterpacht A, et al. Among authors: zabel b. Hum Mutat. 1994;4(4):257-62. doi: 10.1002/humu.1380040405. Hum Mutat. 1994. PMID: 7866404

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