Weaver DD - Search Results

1

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM. Armstrong ME, et al. Among authors: weaver dd. Mol Cytogenet. 2018 Mar 27;11:23. doi: 10.1186/s13039-018-0372-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29599822 Free PMC article.

2

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia.

Palmer CG, Blouin JL, Bull MJ, Breitfeld P, Vance GH, Van Meter T, Weaver DD, Heerema NA, Colbern SG, Korenberg JR, et al. Palmer CG, et al. Among authors: weaver dd. Am J Med Genet. 1995 Jul 17;57(4):527-36. doi: 10.1002/ajmg.1320570403. Am J Med Genet. 1995. PMID: 7573123

3

Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature.

Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. Wheeler PG, et al. Among authors: weaver dd. Am J Med Genet. 1997 Dec 31;73(4):456-62. Am J Med Genet. 1997. PMID: 9415474 Review.

4

49,XXXXY: a distinct phenotype. Three new cases and review.

Peet J, Weaver DD, Vance GH. Peet J, et al. Among authors: weaver dd. J Med Genet. 1998 May;35(5):420-4. doi: 10.1136/jmg.35.5.420. J Med Genet. 1998. PMID: 9610808 Free PMC article.

5

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.

6

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.

7

Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.

Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC. Font-Montgomery E, et al. Among authors: weaver dd. Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82. doi: 10.1002/bdra.20174. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16007591

8

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.

Griffith CB, Vance GH, Weaver DD. Griffith CB, et al. Among authors: weaver dd. Am J Med Genet A. 2009 Jun;149A(6):1346-58. doi: 10.1002/ajmg.a.32883. Am J Med Genet A. 2009. PMID: 19449431

9

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.

Henson KE, Hines KA, Weaver DD, Torres WM, Verbrugge J, Stone K, Vance GH. Henson KE, et al. Among authors: weaver dd. Am J Med Genet A. 2012 Jul;158A(7):1788-92. doi: 10.1002/ajmg.a.35405. Epub 2012 May 31. Am J Med Genet A. 2012. PMID: 22653737 No abstract available.

10

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism.

Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH. Hall AL, et al. Among authors: weaver dd. Genet Med. 2013 Sep;15(9):729-32. doi: 10.1038/gim.2013.26. Epub 2013 Mar 14. Genet Med. 2013. PMID: 23492874 Free article.

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