Shaffer LG - Search Results

1

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).

Gajecka M, Saadeh R, Mackay KL, Glotzbach CD, Spodar K, Chitayat D, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Am J Med Genet A. 2008 Nov 1;146A(21):2777-84. doi: 10.1002/ajmg.a.32427. Am J Med Genet A. 2008. PMID: 18958851

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

Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints.

Han JY, Choo KH, Shaffer LG. Han JY, et al. Among authors: shaffer lg. Am J Hum Genet. 1994 Nov;55(5):960-7. Am J Hum Genet. 1994. PMID: 7977359 Free PMC article.

9

Molecular characterization of de novo secondary trisomy 13.

Shaffer LG, McCaskill C, Han JY, Choo KH, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL. Shaffer LG, et al. Am J Hum Genet. 1994 Nov;55(5):968-74. Am J Hum Genet. 1994. PMID: 7977360 Free PMC article.

10

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

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