Wilcox W - Search Results

1

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Colige A, et al. Among authors: wilcox w. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Am J Hum Genet. 1999. PMID: 10417273 Free PMC article.

2

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

Fujimoto A, Wilcox WR, Cohn DH. Fujimoto A, et al. Among authors: wilcox wr. Am J Med Genet. 1997 Jan 10;68(1):25-8. doi: 10.1002/(sici)1096-8628(19970110)68:1<25::aid-ajmg5>3.0.co;2-x. Am J Med Genet. 1997. PMID: 8986271

3

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: wilcox wr. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

4

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH. Délot E, et al. Among authors: wilcox wr. Hum Mol Genet. 1999 Jan;8(1):123-8. doi: 10.1093/hmg/8.1.123. Hum Mol Genet. 1999. PMID: 9887340

5

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.

Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH. Pace JM, et al. Among authors: wilcox wr. J Med Genet. 2002 Jan;39(1):23-9. doi: 10.1136/jmg.39.1.23. J Med Genet. 2002. PMID: 11826020 Free PMC article.

6

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. Funari VA, et al. Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015. Am J Hum Genet. 2010. PMID: 20869035 Free PMC article.

7

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Among authors: wilcox wr. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.

8

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Tompson SW, et al. Among authors: wilcox wr. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035103 Free PMC article.

9

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: wilcox wr. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

10

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: wilcox wr. Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507. Eur J Hum Genet. 2000. PMID: 10951528

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