Shaffer LG - Search Results

1

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Dobyns WB, et al. Among authors: shaffer lg. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. Am J Med Genet A. 2008. PMID: 18536050 Free PMC article.

2

Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).

Scheuerle A, Zenger-Hain JL, Van Dyke DL, Ledbetter DH, Greenberg F, Shaffer LG. Scheuerle A, et al. Among authors: shaffer lg. Am J Med Genet. 1995 May 8;56(4):403-8. doi: 10.1002/ajmg.1320560411. Am J Med Genet. 1995. PMID: 7604850

3

Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A. Lindsay EA, et al. Among authors: shaffer lg. Am J Med Genet. 1995 Mar 27;56(2):191-7. doi: 10.1002/ajmg.1320560216. Am J Med Genet. 1995. PMID: 7625444

4

Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.

Spikes AS, Hegmann K, Smith JL, Shaffer LG. Spikes AS, et al. Among authors: shaffer lg. Am J Med Genet. 1995 May 22;57(1):31-4. doi: 10.1002/ajmg.1320570109. Am J Med Genet. 1995. PMID: 7645595

5

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.

Levin ML, Shaffer LG, Lewis RAp6, Gresik MV, Lupski JR. Levin ML, et al. Among authors: shaffer lg. Am J Med Genet. 1995 Jan 2;55(1):30-2. doi: 10.1002/ajmg.1320550110. Am J Med Genet. 1995. PMID: 7702093

6

Duplication 3q syndrome: molecular delineation of the critical region.

Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. Aqua MS, et al. Among authors: shaffer lg. Am J Med Genet. 1995 Jan 2;55(1):33-7. doi: 10.1002/ajmg.1320550111. Am J Med Genet. 1995. PMID: 7702094

7

De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.

Lindsay EA, Shaffer LG, Carrozzo R, Greenberg F, Baldini A. Lindsay EA, et al. Among authors: shaffer lg. Am J Med Genet. 1995 Apr 10;56(3):296-9. doi: 10.1002/ajmg.1320560316. Am J Med Genet. 1995. PMID: 7778594

8

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. Shapira SK, et al. Among authors: shaffer lg. Am J Med Genet. 1994 Aug 1;52(1):44-50. doi: 10.1002/ajmg.1320520109. Am J Med Genet. 1994. PMID: 7977460

9

Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.

Hegmann KM, Spikes AS, Orr-Urtreger A, Shaffer LG. Hegmann KM, et al. Among authors: shaffer lg. Am J Med Genet. 1996 Jan 2;61(1):10-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<10::AID-AJMG2>3.0.CO;2-0. Am J Med Genet. 1996. PMID: 8741910

10

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Potocki L, Shaffer LG. Potocki L, et al. Among authors: shaffer lg. Am J Med Genet. 1996 Mar 29;62(3):319-25. doi: 10.1002/(SICI)1096-8628(19960329)62:3<319::AID-AJMG22>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8882796 Review.

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