Sutton VR - Search Results

1

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

2

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. Among authors: sutton vr. Am J Hum Genet. 1997 Sep;61(3):642-50. doi: 10.1086/515520. Am J Hum Genet. 1997. PMID: 9326330 Free PMC article.

3

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: sutton vr. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

4

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.

Sutton VR, Shaffer LG. Sutton VR, et al. Am J Med Genet. 2000 Aug 28;93(5):381-7. doi: 10.1002/1096-8628(20000828)93:5<381::aid-ajmg7>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10951461 Review.

5

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.

McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer LG. McGowan KD, et al. Among authors: sutton vr. Prenat Diagn. 2002 Feb;22(2):141-3. Prenat Diagn. 2002. PMID: 11857621

6

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.

Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, O'Brien WE, Shaffer LG. Kashork CD, et al. Among authors: sutton vr. Prenat Diagn. 2002 Nov;22(11):1028-32. doi: 10.1002/pd.466. Prenat Diagn. 2002. PMID: 12424769

7

Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14.

Coveler KJ, Sutton VR, Knox-DuBois C, Shaffer LG. Coveler KJ, et al. Among authors: sutton vr. J Med Genet. 2003 Mar;40(3):e26. doi: 10.1136/jmg.40.3.e26. J Med Genet. 2003. PMID: 12624155 Free PMC article. No abstract available.

8

Epigenetic detection of human chromosome 14 uniparental disomy.

Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL. Murphy SK, et al. Among authors: sutton vr. Hum Mutat. 2003 Jul;22(1):92-7. doi: 10.1002/humu.10237. Hum Mutat. 2003. PMID: 12815599

9

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

10

A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.

Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW. Sutton VR, et al. Am J Med Genet A. 2005 Mar 1;133A(2):209-12. doi: 10.1002/ajmg.a.30567. Am J Med Genet A. 2005. PMID: 15666313

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