Krakow D - Search Results

1

The skeletal dysplasias: clinical-molecular correlations.

Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. Rimoin DL, et al. Among authors: krakow d. Ann N Y Acad Sci. 2007 Nov;1117:302-9. doi: 10.1196/annals.1402.072. Ann N Y Acad Sci. 2007. PMID: 18056050 Review.

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

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

8

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism.

Graham JM Jr, Krakow D, Tolo VT, Smith AK, Lachman RS. Graham JM Jr, et al. Among authors: krakow d. Pediatr Radiol. 2001 Jan;31(1):2-9. doi: 10.1007/s002470000355. Pediatr Radiol. 2001. PMID: 11200992

9

Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene.

Krakow D, Sebald E, King LM, Cohn DH. Krakow D, et al. Gene. 2001 Nov 28;279(2):213-9. doi: 10.1016/s0378-1119(01)00756-9. Gene. 2001. PMID: 11733146

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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