Krakow D - Search Results

1

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Krakow D, Lachman RS, Rimoin DL. Krakow D, et al. Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb. Genet Med. 2009. PMID: 19265753 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

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

6

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

7

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

8

Use of three-dimensional ultrasonography in differentiating craniosynostosis from severe fetal molding.

Krakow D, Santulli T, Platt LD. Krakow D, et al. J Ultrasound Med. 2001 Apr;20(4):427-31. doi: 10.7863/jum.2001.20.4.427. J Ultrasound Med. 2001. PMID: 11316322 No abstract available.

9

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

10

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Cohn DH, et al. Among authors: krakow d. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16. Am J Hum Genet. 2003. PMID: 12491225 Free PMC article.

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