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Results: 1 to 20 of 81

1.

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.

Am J Med Genet A. 2014 Apr;164A(4):1069-74. doi: 10.1002/ajmg.a.36396. Epub 2014 Jan 23.

PMID:
24459084
2.

Health supervision for children with Down syndrome.

Bull MJ; Committee on Genetics.

Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25. Erratum in: Pediatrics. 2011 Dec;128(6):1212.

3.

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP.

J Bone Miner Res. 2011 Oct;26(10):2389-98. doi: 10.1002/jbmr.454. Review.

PMID:
21713987
4.

Health supervision for children with fragile X syndrome.

Hersh JH, Saul RA; Committee on Genetics.

Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25. Review.

5.

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.

Am J Med Genet A. 2011 Jan;155A(1):186-91. doi: 10.1002/ajmg.a.33763.

PMID:
21204230
6.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

7.

Fetal alcohol spectrum disorders (FASD): what medical professionals need to know.

Senturias YS, Asamoah A, Allard A, Hersh JH.

J Ky Med Assoc. 2009 May;107(5):177-80. No abstract available.

PMID:
19548521
8.

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG.

Clin Genet. 2008 Nov;74(5):469-75. doi: 10.1111/j.1399-0004.2008.01094.x. Epub 2008 Sep 20.

PMID:
18811697
9.

Aggressive osteoblastoma: a case report involving a unique chromosomal aberration.

Baker AC, Rezeanu L, Klein MJ, Pitt MJ, Buecker P, Hersh JH, Buchino JJ, Siegal GP.

Int J Surg Pathol. 2010 Jun;18(3):219-24. doi: 10.1177/1066896908319675. Epub 2008 Jul 8.

PMID:
18611933
10.

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG.

Mol Cytogenet. 2008 Apr 28;1:8. doi: 10.1186/1755-8166-1-8.

11.

Health supervision for children with neurofibromatosis.

Hersh JH; American Academy of Pediatrics Committee on Genetics.

Pediatrics. 2008 Mar;121(3):633-42. doi: 10.1542/peds.2007-3364. Review.

PMID:
18310216
12.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA.

Am J Med Genet A. 2005 Jan 30;132A(3):248-55.

PMID:
15523605
13.

Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML.

Raj AB, Bertolone SJ, Barch MJ, Hersh JH.

J Pediatr Hematol Oncol. 2003 Jun;25(6):508-9. No abstract available.

PMID:
12794535
14.
15.

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

Angle B, Yen F, Hersh JH, Gowans G, Barch M.

Am J Med Genet. 2002 Aug 15;111(3):307-12.

PMID:
12210328
16.

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

Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G.

Am J Med Genet. 2002 Jul 15;110(4):320-3.

PMID:
12116204
17.

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

Mégarbané A, Hersh JH, Chouery E, Fabre M.

Am J Med Genet. 2002 May 15;109(4):323-7.

PMID:
11992488
18.

Investigation of illness associated with exposure to hydrogen sulfide among Pennsylvania school students.

Logue JN, Ramaswamy K, Hersh JH.

J Environ Health. 2001 Jan-Feb;63(6):9-13.

PMID:
11381473
19.

Fetal valproate syndrome and autism: additional evidence of an association.

Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH.

Dev Med Child Neurol. 2001 Mar;43(3):202-6.

PMID:
11263692
20.
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