Bamshad MJ - Search Results

1

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: bamshad mj. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.

2

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. Am J Hum Genet. 1994 Dec;55(6):1153-8. Am J Hum Genet. 1994. PMID: 7977374 Free PMC article.

3

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. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424

4

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Przylepa KA, et al. Among authors: bamshad mj. Nat Genet. 1996 Aug;13(4):492-4. doi: 10.1038/ng0896-492. Nat Genet. 1996. PMID: 8696350

5

A revised and extended classification of the distal arthrogryposes.

Bamshad M, Jorde LB, Carey JC. Bamshad M, et al. Am J Med Genet. 1996 Nov 11;65(4):277-81. doi: 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8923935 Review.

6

Distal arthrogryposis type 1: clinical analysis of a large kindred.

Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Bamshad M, et al. Am J Med Genet. 1996 Nov 11;65(4):282-5. doi: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923936

7

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome.

Bamshad M, Root S, Carey JC. Bamshad M, et al. Am J Med Genet. 1996 Nov 11;65(4):325-31. doi: 10.1002/(SICI)1096-8628(19961111)65:4<325::AID-AJMG15>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8923944

8

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.

9

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M. O'Quinn JR, et al. Am J Hum Genet. 1998 Jan;62(1):130-5. doi: 10.1086/301687. Am J Hum Genet. 1998. PMID: 9443880 Free PMC article.

10

Wolf-Hirschhorn syndrome and a split-hand malformation.

Bamshad M, O'Quinn JR, Carey JC. Bamshad M, et al. Am J Med Genet. 1998 Feb 3;75(4):351-4. doi: 10.1002/(sici)1096-8628(19980203)75:4<351::aid-ajmg3>3.0.co;2-t. Am J Med Genet. 1998. PMID: 9482640

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