Hersh JH - Search Results

1

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH. Williams PG, et al. Among authors: hersh jh. Am J Med Genet A. 2011 Jan;155A(1):186-91. doi: 10.1002/ajmg.a.33763. Am J Med Genet A. 2011. PMID: 21204230

2

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.

Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M. Williams PG, et al. Among authors: hersh jh. Clin Genet. 1997 Dec;52(6):436-41. doi: 10.1111/j.1399-0004.1997.tb02565.x. Clin Genet. 1997. PMID: 9520255

3

A male with fetal valproate syndrome and autism.

Williams PG, Hersh JH. Williams PG, et al. Among authors: hersh jh. Dev Med Child Neurol. 1997 Sep;39(9):632-4. doi: 10.1111/j.1469-8749.1997.tb07500.x. Dev Med Child Neurol. 1997. PMID: 9344057 Free article.

4

Brief report: the association of neurofibromatosis type 1 and autism.

Williams PG, Hersh JH. Williams PG, et al. Among authors: hersh jh. J Autism Dev Disord. 1998 Dec;28(6):567-71. doi: 10.1023/a:1026012414193. J Autism Dev Disord. 1998. PMID: 9932243 No abstract available.

5

Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?

Angle B, Hersh JH. Angle B, et al. Among authors: hersh jh. Am J Med Genet. 1997 Jan 10;68(1):39-42. doi: 10.1002/(sici)1096-8628(19970110)68:1<39::aid-ajmg7>3.0.co;2-t. Am J Med Genet. 1997. PMID: 8986273

6

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S. Powis Z, et al. Among authors: hersh jh. Clin Genet. 2018 Apr;93(4):752-761. doi: 10.1111/cge.13132. Epub 2018 Jan 7. Clin Genet. 2018. PMID: 28881385

7

Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.

Angle B, Yen F, Hersh JH, Gowans G, Barch M. Angle B, et al. Among authors: hersh jh. Am J Med Genet. 2002 Aug 15;111(3):307-12. doi: 10.1002/ajmg.10599. Am J Med Genet. 2002. PMID: 12210328

8

Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.

Angle B, Yen F, Hersh JH, Gowans G. Angle B, et al. Among authors: hersh jh. Am J Med Genet A. 2003 Feb 1;116A(4):376-80. doi: 10.1002/ajmg.a.10025. Am J Med Genet A. 2003. PMID: 12522795

9

Developmental field defects: coming together of associations and sequences during blastogenesis.

Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G. Hersh JH, et al. Am J Med Genet. 2002 Jul 15;110(4):320-3. doi: 10.1002/ajmg.10429. Am J Med Genet. 2002. PMID: 12116204

10

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Thapa M, Asamoah A, Gowans GC, Platky KC, Barch MJ, Mouchrani P, Rajakaruna C, Hersh JH. Thapa M, et al. Among authors: hersh jh. Am J Med Genet A. 2014 Apr;164A(4):1069-74. doi: 10.1002/ajmg.a.36396. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459084

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