Shapira SK - Search Results

1

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Heilstedt HA, et al. Among authors: shapira sk. Am J Hum Genet. 2003 May;72(5):1200-12. doi: 10.1086/375179. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687501 Free PMC article.

2

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: shapira sk. Am J Med Genet. 1995 Mar 27;56(2):191-7. doi: 10.1002/ajmg.1320560216. Am J Med Genet. 1995. PMID: 7625444

3

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. Nesslinger NJ, et al. Among authors: shapira sk. Am J Hum Genet. 1994 Mar;54(3):464-72. Am J Hum Genet. 1994. PMID: 7906921 Free PMC article.

4

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. Am J Med Genet. 1994 Aug 1;52(1):44-50. doi: 10.1002/ajmg.1320520109. Am J Med Genet. 1994. PMID: 7977460

5

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.

Shapira SK, Orr-Urtreger A, Gagos S, Shaffer LG. Shapira SK, et al. Am J Med Genet. 1997 Apr 14;69(4):360-4. Am J Med Genet. 1997. PMID: 9098483

6

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Shapira SK, et al. Am J Hum Genet. 1997 Sep;61(3):642-50. doi: 10.1086/515520. Am J Hum Genet. 1997. PMID: 9326330 Free PMC article.

7

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. Goodman BK, et al. Among authors: shapira sk. Am J Med Genet. 1998 Dec 4;80(4):377-84. doi: 10.1002/(sici)1096-8628(19981204)80:4<377::aid-ajmg14>3.0.co;2-7. Am J Med Genet. 1998. PMID: 9856567

8

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. Wu YQ, et al. Among authors: shapira sk. Hum Mol Genet. 1999 Feb;8(2):313-21. doi: 10.1093/hmg/8.2.313. Hum Mol Genet. 1999. PMID: 9931339

9

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: shapira sk. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

10

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H. Abou-Zahr F, et al. Among authors: shapira sk. Am J Med Genet. 1999 Apr 23;83(5):388-91. doi: 10.1002/(sici)1096-8628(19990423)83:5<388::aid-ajmg9>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10232749

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