Shaffer LG - Search Results

1

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.

Berend SA, Horwitz J, McCaskill C, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Hum Genet. 2000 Jun;66(6):1787-93. doi: 10.1086/302916. Epub 2000 Apr 19. Am J Hum Genet. 2000. PMID: 10775524 Free PMC article.

2

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

Berend SA, Bejjani BA, McCaskill C, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

3

Parental origin and timing of de novo Robertsonian translocation formation.

Bandyopadhyay R, Heller A, Knox-DuBois C, McCaskill C, Berend SA, Page SL, Shaffer LG. Bandyopadhyay R, et al. Among authors: shaffer lg. Am J Hum Genet. 2002 Dec;71(6):1456-62. doi: 10.1086/344662. Epub 2002 Nov 6. Am J Hum Genet. 2002. PMID: 12424707 Free PMC article. Review.

4

Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.

Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, Shaffer LG. Bandyopadhyay R, et al. Among authors: shaffer lg. Am J Med Genet A. 2003 Jan 15;116A(2):159-63. doi: 10.1002/ajmg.a.10113. Am J Med Genet A. 2003. PMID: 12494435

5

Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction.

Berend SA, Page SL, Atkinson W, McCaskill C, Lamb NE, Sherman SL, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Hum Genet. 2003 Feb;72(2):488-95. doi: 10.1086/367547. Epub 2002 Dec 23. Am J Hum Genet. 2003. PMID: 12506337 Free PMC article.

6

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA. Berend SA, et al. Among authors: shaffer lg. Am J Med Genet. 2002 May 15;109(4):311-7. doi: 10.1002/ajmg.10334. Am J Med Genet. 2002. PMID: 11992486

7

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

8

Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome.

Shaffer LG, McCaskill C, Haller V, Brown JA, Jackson-Cook CK. Shaffer LG, et al. Am J Med Genet. 1993 Dec 1;47(8):1218-22. doi: 10.1002/ajmg.1320470818. Am J Med Genet. 1993. PMID: 7904793

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

Prenatal diagnosis and clinical findings in a case of hexasomy 12p.

Van den Veyver IB, Macha ME, McCaskill C, Carpenter RJ Jr, Shaffer LG. Van den Veyver IB, et al. Among authors: shaffer lg. Am J Med Genet. 1993 Dec 1;47(8):1171-4. doi: 10.1002/ajmg.1320470808. Am J Med Genet. 1993. PMID: 8291550

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