Bamshad MJ - Search Results

1

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: bamshad mj. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

452 results

Search Page

Filters