Shaffer LG - Search Results

1

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.

Bacino CA, Kashork CD, Davino NA, Shaffer LG. Bacino CA, et al. Among authors: shaffer lg. Am J Med Genet. 2000 Jun 5;92(4):250-5. Am J Med Genet. 2000. PMID: 10842290

2

Parental origin determination in thirty de novo Robertsonian translocations.

Shaffer LG, Jackson-Cook CK, Stasiowski BA, Spence JE, Brown JA. Shaffer LG, et al. Am J Med Genet. 1992 Aug 1;43(6):957-63. doi: 10.1002/ajmg.1320430611. Am J Med Genet. 1992. PMID: 1357969

3

A molecular genetic approach to the identification of isochromosomes of chromosome 21.

Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE. Shaffer LG, et al. Hum Genet. 1991 Feb;86(4):375-82. doi: 10.1007/BF00201838. Hum Genet. 1991. PMID: 1671850

4

Evidence for a major gene in familial anencephaly.

Shaffer LG, Marazita ML, Bodurtha J, Newlin A, Nance WE. Shaffer LG, et al. Am J Med Genet. 1990 May;36(1):97-101. doi: 10.1002/ajmg.1320360119. Am J Med Genet. 1990. PMID: 2333913

5

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

6

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

7

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

8

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

9

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

10

Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm.

Bischoff FZ, Nguyen DD, Burt KJ, Shaffer LG. Bischoff FZ, et al. Among authors: shaffer lg. Cytogenet Cell Genet. 1994;66(4):237-43. doi: 10.1159/000133702. Cytogenet Cell Genet. 1994. PMID: 7718031

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