Shaffer LG - Search Results

1

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Luo Y, et al. Among authors: shaffer lg. Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729882 Free PMC article.

2

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

3

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

4

Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH.

Page SL, Earnshaw WC, Choo KH, Shaffer LG. Page SL, et al. Among authors: shaffer lg. Hum Mol Genet. 1995 Feb;4(2):289-94. doi: 10.1093/hmg/4.2.289. Hum Mol Genet. 1995. PMID: 7757082

5

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.

Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG. Bischoff FZ, et al. Among authors: shaffer lg. Hum Mol Genet. 1995 Mar;4(3):395-9. doi: 10.1093/hmg/4.3.395. Hum Mol Genet. 1995. PMID: 7795593

6

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.

7

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH. Shaffer LG, et al. Am J Med Genet. 1993 Sep 1;47(3):383-6. doi: 10.1002/ajmg.1320470317. Am J Med Genet. 1993. PMID: 8135286

8

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.

Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. Shaffer LG, et al. Am J Med Genet. 1993 Mar 1;45(5):581-3. doi: 10.1002/ajmg.1320450512. Am J Med Genet. 1993. PMID: 8456828

9

A clinical and molecular study of mosaicism for trisomy 17.

Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR. Shaffer LG, et al. Hum Genet. 1996 Jan;97(1):69-72. doi: 10.1007/BF00218835. Hum Genet. 1996. PMID: 8557263

10

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.

Page SL, Shin JC, Han JY, Choo KH, Shaffer LG. Page SL, et al. Among authors: shaffer lg. Hum Mol Genet. 1996 Sep;5(9):1279-88. doi: 10.1093/hmg/5.9.1279. Hum Mol Genet. 1996. PMID: 8872467

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