Hobart HH - Search Results

1

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.

Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P. Hobart HH, et al. Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):220-8. doi: 10.1002/ajmg.c.30258. Am J Med Genet C Semin Med Genet. 2010. PMID: 20425783 Free PMC article.

2

Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome.

Stock AD, Spallone PA, Dennis TR, Netski D, Morris CA, Mervis CB, Hobart HH. Stock AD, et al. Among authors: hobart hh. Am J Med Genet A. 2003 Jul 30;120A(3):320-5. doi: 10.1002/ajmg.a.20055. Am J Med Genet A. 2003. PMID: 12838549

3

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Among authors: hobart hh. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246

4

BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.

Kimberley KW, Morris CA, Hobart HH. Kimberley KW, et al. Among authors: hobart hh. BMC Med Genet. 2006 May 18;7:46. doi: 10.1186/1471-2350-7-46. BMC Med Genet. 2006. PMID: 16709256 Free PMC article.

5

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG. Pani AM, et al. Among authors: hobart hh. PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349. PLoS One. 2010. PMID: 20824207 Free PMC article.

6

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Among authors: hobart hh. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.

7

Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency.

Hinton RB Jr, Deutsch GH, Pearl JM, Hobart HH, Morris CA, Benson DW. Hinton RB Jr, et al. Among authors: hobart hh. J Heart Valve Dis. 2006 May;15(3):352-5. J Heart Valve Dis. 2006. PMID: 16784071

8

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.

Armstrong L, Allanson JE, Weaver DD, Bevan CJ, Hobart HH. Armstrong L, et al. Among authors: hobart hh. Am J Med Genet A. 2005 Apr 30;134(3):299-304. doi: 10.1002/ajmg.a.30502. Am J Med Genet A. 2005. PMID: 15742366 Review.

9

Down-regulation of replication factor C-40 (RFC40) causes chromosomal missegregation in neonatal and hypertrophic adult rat cardiac myocytes.

Ata H, Shrestha D, Oka M, Ochi R, Jong CJ, Gebb S, Benjamin J, Schaffer S, Hobart HH, Downey J, McMurtry I, Gupte R. Ata H, et al. Among authors: hobart hh. PLoS One. 2012;7(6):e39009. doi: 10.1371/journal.pone.0039009. Epub 2012 Jun 14. PLoS One. 2012. PMID: 22720015 Free PMC article.

10

Blastopathies and microcephaly in a Chornobyl impacted region of Ukraine.

Wertelecki W, Yevtushok L, Zymak-Zakutnia N, Wang B, Sosyniuk Z, Lapchenko S, Hobart HH. Wertelecki W, et al. Among authors: hobart hh. Congenit Anom (Kyoto). 2014 Aug;54(3):125-49. doi: 10.1111/cga.12051. Congenit Anom (Kyoto). 2014. PMID: 24666273 Free PMC article.

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