Krakow D - Search Results

1

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V. Huber C, et al. Among authors: krakow d. Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183449 Free PMC article.

2

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Am J Hum Genet. 1998 Jul;63(1):120-4. doi: 10.1086/301921. Am J Hum Genet. 1998. PMID: 9634519 Free PMC article.

3

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL. Wilcox WR, et al. Among authors: krakow d. Am J Med Genet. 1998 Jul 7;78(3):274-81. doi: 10.1002/(sici)1096-8628(19980707)78:3<274::aid-ajmg14>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9677066

4

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH. Ahmad M, et al. Among authors: krakow d. Am J Med Genet. 1998 Aug 6;78(5):468-73. Am J Med Genet. 1998. PMID: 9714015

5

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. Faiyaz ul Haque M, et al. Among authors: krakow d. Nat Genet. 1998 Oct;20(2):157-62. doi: 10.1038/2458. Nat Genet. 1998. PMID: 9771708

6

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Gong Y, et al. Among authors: krakow d. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184

7

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: krakow d. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Am J Hum Genet. 1999. PMID: 10417273 Free PMC article.

8

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Körkkö J, et al. Among authors: krakow d. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10797431

9

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. Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507. Eur J Hum Genet. 2000. PMID: 10951528

10

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Unger S, et al. Among authors: krakow d. Am J Med Genet. 2001 Nov 22;104(2):140-6. doi: 10.1002/ajmg.10062. Am J Med Genet. 2001. PMID: 11746045

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