Krakowiak PA - Search Results

1

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB. Bamshad M, et al. Among authors: krakowiak pa. Am J Hum Genet. 1994 Dec;55(6):1153-8. Am J Hum Genet. 1994. PMID: 7977374 Free PMC article.

2

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Sung SS, et al. Among authors: krakowiak pa. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Am J Hum Genet. 2003. PMID: 12592607 Free PMC article.

3

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. Toydemir RM, et al. Among authors: krakowiak pa. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 Sep 26. Am J Hum Genet. 2006. PMID: 17033969 Free PMC article.

4

Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.

Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. Jorde LB, et al. Among authors: krakowiak pa. Am J Hum Genet. 1995 Sep;57(3):523-38. doi: 10.1002/ajmg.1320570340. Am J Hum Genet. 1995. PMID: 7668280 Free PMC article.

5

A gene for ulnar-mammary syndrome maps to 12q23-q24.1.

Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB. Bamshad M, et al. Among authors: krakowiak pa. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424

6

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M. Krakowiak PA, et al. Am J Hum Genet. 1997 Feb;60(2):426-32. Am J Hum Genet. 1997. PMID: 9012416 Free PMC article.

7

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).

Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. Krakowiak PA, et al. Am J Med Genet. 1998 Feb 26;76(1):93-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9508073

8

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Sung SS, et al. Among authors: krakowiak pa. Am J Hum Genet. 2003 Jul;73(1):212-4. doi: 10.1086/376418. Am J Hum Genet. 2003. PMID: 12865991 Free PMC article. No abstract available.

9

Microsatellite diversity and the demographic history of modern humans.

Jorde LB, Rogers AR, Bamshad M, Watkins WS, Krakowiak P, Sung S, Kere J, Harpending HC. Jorde LB, et al. Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3100-3. doi: 10.1073/pnas.94.7.3100. Proc Natl Acad Sci U S A. 1997. PMID: 9096352 Free PMC article.

10

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB. Bamshad M, et al. Among authors: krakowiak pa. Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311. Nat Genet. 1997. PMID: 9207801

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