Berend SA - Search Results

1

Pure trisomy 10p involving an isochromosome 10p.

Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809

2

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

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

3

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. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

4

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Among authors: berend sa. Am J Med Genet. 2002 Nov 1;112(4):384-9. doi: 10.1002/ajmg.10659. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9. PMID: 12376941 Corrected and republished.

5

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: berend sa. 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.

6

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: berend sa. 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

7

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. 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.

8

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Among authors: berend sa. Am J Med Genet A. 2003 Apr 15;118A(2):384-9. Am J Med Genet A. 2003. PMID: 12698964

9

Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation.

Berend SA, Canún S, McCaskill C, Page SL, Shaffer LG. Berend SA, et al. Am J Med Genet. 1998 Nov 16;80(3):252-9. doi: 10.1002/(sici)1096-8628(19981116)80:3<252::aid-ajmg14>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9843048

10

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.

Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG. Berend SA, et al. Am J Med Genet. 1999 Jan 29;82(3):275-81. doi: 10.1002/(sici)1096-8628(19990129)82:3<275::aid-ajmg15>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10215554

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