Weaver DD - Search Results

1

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: weaver dd. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.

2

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

Wheeler PG, Weaver DD, Palmer CG. Wheeler PG, et al. Among authors: weaver dd. Am J Med Genet. 1995 Feb 13;55(4):462-5. doi: 10.1002/ajmg.1320550414. Am J Med Genet. 1995. PMID: 7762587

3

Branchio-oculo-facial syndrome: broadening the spectrum.

McCool M, Weaver DD. McCool M, et al. Among authors: weaver dd. Am J Med Genet. 1994 Feb 15;49(4):414-21. doi: 10.1002/ajmg.1320490413. Am J Med Genet. 1994. PMID: 8160736 Review.

4

De novo 10q22 interstitial deletion.

Cook L, Weaver DD, Hartsfield JK Jr, Vance GH. Cook L, et al. Among authors: weaver dd. J Med Genet. 1999 Jan;36(1):71-2. J Med Genet. 1999. PMID: 9950372 Free PMC article.

5

Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications.

Walsh LE, Vance GH, Weaver DD. Walsh LE, et al. Among authors: weaver dd. Am J Med Genet. 2001 Jan 15;98(2):137-44. doi: 10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5. Am J Med Genet. 2001. PMID: 11223849 Review.

6

A tale of two deletions: a report of two novel 20p13 --> pter deletions.

McGill AK, Pastore MT, Herman GE, Alliman S, Rosenfeld JA, Weaver DD. McGill AK, et al. Among authors: weaver dd. Am J Med Genet A. 2010 Apr;152A(4):1000-7. doi: 10.1002/ajmg.a.33339. Am J Med Genet A. 2010. PMID: 20358616

7

Report of a mother and daughter with the 12q14 microdeletion syndrome.

Bibb AL, Rosenfeld JA, Weaver DD. Bibb AL, et al. Among authors: weaver dd. Am J Med Genet A. 2012 Feb;158A(2):417-22. doi: 10.1002/ajmg.a.34397. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140081

8

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. Feldman HR, et al. Among authors: weaver dd. Am J Med Genet A. 2019 Feb;179(2):300-305. doi: 10.1002/ajmg.a.60698. Epub 2018 Dec 14. Am J Med Genet A. 2019. PMID: 30549396

9

Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

Moore CA, Weaver DD. Moore CA, et al. Among authors: weaver dd. Am J Med Genet. 1989 Jun;33(2):231-7. doi: 10.1002/ajmg.1320330218. Am J Med Genet. 1989. PMID: 2764034

10

Neural tube defects and omphalocele in trisomy 18.

Moore CA, Harmon JP, Padilla LM, Castro VB, Weaver DD. Moore CA, et al. Among authors: weaver dd. Clin Genet. 1988 Aug;34(2):98-103. doi: 10.1111/j.1399-0004.1988.tb02843.x. Clin Genet. 1988. PMID: 3191615

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