Bamshad MJ - Search Results

1

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: bamshad mj. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 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

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.

5

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

6

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

7

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.

8

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

9

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

10

Reconstructing the history of human limb development: lessons from birth defects.

Bamshad M, Watkins WS, Dixon ME, Le T, Roeder AD, Kramer BE, Carey JC, Jorde LB. Bamshad M, et al. Pediatr Res. 1999 Mar;45(3):291-9. doi: 10.1203/00006450-199903000-00001. Pediatr Res. 1999. PMID: 10088644 Review.

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