PubMed

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.

Edelmann L, Hirschhorn K.

Ann N Y Acad Sci. 2009 Jan;1151:157-66. Review.PMID: 19154522 [PubMed - indexed for MEDLINE]Related articles

A short history of the American Society of Human Genetics.

Hirschhorn K.

Am J Hum Genet. 2008 Sep;83(3):307-10. No abstract available. PMID: 18985866 [PubMed - indexed for MEDLINE]Related articlesFree article

A short history of the initial discovery of the Wolf-Hirschhorn syndrome.

Hirschhorn K.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):244-5.PMID: 18932223 [PubMed - indexed for MEDLINE]Related articles

Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K.

Am J Med Genet A. 2008 Jan 15;146A(2):219-24.PMID: 18076104 [PubMed - indexed for MEDLINE]Related articles

American Pediatric Society's 2006 John Howland Award acceptance lecture.

Hirschhorn K.

Pediatr Res. 2006 Sep;60(3):367-8. Epub 2006 Jul 20. No abstract available. PMID: 16857768 [PubMed - indexed for MEDLINE]Related articles

Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study.

Menasha J, Levy B, Hirschhorn K, Kardon NB.

Genet Med. 2005 Apr;7(4):251-63.PMID: 15834243 [PubMed - indexed for MEDLINE]Related articles

The etiology of Wolf-Hirschhorn syndrome.

Bergemann AD, Cole F, Hirschhorn K.

Trends Genet. 2005 Mar;21(3):188-95. Review.PMID: 15734578 [PubMed - indexed for MEDLINE]Related articles

Pesticide testing in humans: ethics and public policy.

Oleskey C, Fleischman A, Goldman L, Hirschhorn K, Landrigan PJ, Lappé M, Marshall MF, Needleman H, Rhodes R, McCally M.

Environ Health Perspect. 2004 Jun;112(8):914-9.PMID: 15175182 [PubMed - indexed for MEDLINE]Related articlesFree article

A history of medical genetics in pediatrics.

Rimoin DL, Hirschhorn K.

Pediatr Res. 2004 Jul;56(1):150-9. Epub 2004 May 5.PMID: 15128921 [PubMed - indexed for MEDLINE]Related articles

Characterization of constitutional chromosome abnormalities by comparative genomic hybridization.

Levy B, Hirschhorn K.

Methods Mol Biol. 2002;204:121-32. No abstract available. PMID: 12397794 [PubMed - indexed for MEDLINE]Related articles

First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy.

Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD, Munné S.

Fertil Steril. 2002 Sep;78(3):543-9.PMID: 12215331 [PubMed - indexed for MEDLINE]Related articles

Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.

Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Warburton PE.

Am J Med Genet. 2002 Jul 1;110(3):258-67.PMID: 12116235 [PubMed - indexed for MEDLINE]Related articles

Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.

Levy B, Jalal SM, Dunn TM, Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH, Hughes T, Velagaleti GV.

Am J Med Genet. 2002 Mar 15;108(3):198-204.PMID: 11891685 [PubMed - indexed for MEDLINE]Related articles

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.

Am J Med Genet. 2002 Mar 15;108(3):192-7. Review.PMID: 11891684 [PubMed - indexed for MEDLINE]Related articles

A comprehensive review of genetic association studies.

Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K.

Genet Med. 2002 Mar-Apr;4(2):45-61. Review.PMID: 11882781 [PubMed - indexed for MEDLINE]Related articles

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.

Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K.

Am J Med Genet. 2001 Jul 22;102(1):76-80.PMID: 11471177 [PubMed - indexed for MEDLINE]Related articles

Clinical applications of comparative genomic hybridization.

Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K.

Genet Med. 1998 Nov-Dec;1(1):4-12.PMID: 11261428 [PubMed - indexed for MEDLINE]Related articles

Duty to re-contact.

Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE.

Genet Med. 1999 May-Jun;1(4):171-2. No abstract available. Erratum in: Genet Med 1999 Jul-Aug;1(5):186. PMID: 11258354 [PubMed - indexed for MEDLINE]Related articles

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome.

Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P.

Cytogenet Cell Genet. 2000;91(1-4):165-70.PMID: 11173851 [PubMed - indexed for MEDLINE]Related articles

Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization.

Levy B, Mukherjee T, Hirschhorn K.

Cancer Genet Cytogenet. 2000 Aug;121(1):1-8.PMID: 10958933 [PubMed - indexed for MEDLINE]Related articles

Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome.

Taylor Clelland CL, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C.

Mamm Genome. 2000 Aug;11(8):675-81.PMID: 10920239 [PubMed - indexed for MEDLINE]Related articles

Jumping translocations in spontaneous abortions.

Levy B, Dunn TM, Hirschhorn K, Kardon N.

Cytogenet Cell Genet. 2000;88(1-2):25-9.PMID: 10773659 [PubMed - indexed for MEDLINE]Related articles

Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis.

Cotter PD, Hirschhorn K.

Clin Genet. 1998 Mar;53(3):230. No abstract available. PMID: 9630083 [PubMed - indexed for MEDLINE]Related articles

Reproductive choice and public policy: a doctor's perspective.

Hirschhorn K.

Mt Sinai J Med. 1998 May;65(3):191-4; discussion 215-23. No abstract available. PMID: 9615570 [PubMed - indexed for MEDLINE]Related articles

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.

Hirschhorn K.

Am J Med Genet. 1998 Apr 13;76(5):447. No abstract available. PMID: 9556307 [PubMed - indexed for MEDLINE]Related articles

Paternal uniparental disomy for chromosome 14: a case report and review.

Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K.

Am J Med Genet. 1997 May 2;70(1):74-9. Review.PMID: 9129745 [PubMed - indexed for MEDLINE]Related articles

Public policy. A doctor's perspective.

Hirschhorn K.

Mt Sinai J Med. 1997 Mar;64(2):105-7. No abstract available. PMID: 9057467 [PubMed - indexed for MEDLINE]Related articles

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinänen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR.

Hum Mol Genet. 1997 Feb;6(2):317-24.PMID: 9063753 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.

Levy B, Gershin IF, Desnick RJ, Babu A, Gelb BD, Hirschhorn K, Cotter PD.

Cytogenet Cell Genet. 1997;76(1-2):68-71.PMID: 9154131 [PubMed - indexed for MEDLINE]Related articles

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.

Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K.

Hum Genet. 1996 Mar;97(3):404-6.PMID: 8786092 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.

Hirschhorn K.

Am J Med Genet. 1996 Mar 1;62(1):98-9. No abstract available. PMID: 8779334 [PubMed - indexed for MEDLINE]Related articles

Horace L. Hodes (1907-1989).

Hirschhorn K.

J Pediatr. 1996 Mar;128(3):436-7. No abstract available. PMID: 8774519 [PubMed - indexed for MEDLINE]Related articles

1995 William Allan Award address. Human genetics: a discipline at risk for fragmentation.

Hirschhorn K.

Am J Hum Genet. 1996 Jan;58(1):1-6. No abstract available. PMID: 8554045 [PubMed - indexed for MEDLINE]Related articlesFree article

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

Estabrooks LL, Breg WR, Hayden MR, Ledbetter DH, Myers RM, Wyandt HE, Yang-Feng TL, Hirschhorn K.

Am J Med Genet. 1995 Feb 13;55(4):453-8. Review.PMID: 7762585 [PubMed - indexed for MEDLINE]Related articles

Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism.

Petrella R, Rabinowitz JG, Steinmann B, Hirschhorn K.

Am J Med Genet. 1993 Aug 15;47(2):187-97.PMID: 8213905 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of Roberts syndrome.

Hirschhorn K, Kaffe S.

Prenat Diagn. 1992 Nov;12(11):976. No abstract available. PMID: 1494554 [PubMed - indexed for MEDLINE]Related articles

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies.

Hsu LY, Kaffe S, Jenkins EC, Alonso L, Benn PA, David K, Hirschhorn K, Lieber E, Shanske A, Shapiro LR, et al.

Prenat Diagn. 1992 Jul;12(7):555-73.PMID: 1508847 [PubMed - indexed for MEDLINE]Related articles

A guide to human chromosome defects.

Babu A, Hirschhorn K.

Birth Defects Orig Artic Ser. 1992;28(2):1-18. Review. No abstract available. PMID: 1294260 [PubMed - indexed for MEDLINE]Related articles

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.

DNA Cell Biol. 1991 Nov;10(9):681-7.PMID: 1684505 [PubMed - indexed for MEDLINE]Related articles

Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.

Petrella R, Hirschhorn K, German J.

Am J Med Genet. 1991 Sep 1;40(3):316-8.PMID: 1951436 [PubMed - indexed for MEDLINE]Related articles

Trisomy 12 mosaicism detected by mid-trimester amniocentesis.

Petrella R, Hirschhorn K.

Prenat Diagn. 1990 Dec;10(12):781-5. Review.PMID: 2075180 [PubMed - indexed for MEDLINE]Related articles

Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K.

Am J Med Genet. 1990 Sep;37(1):10-4. Review.PMID: 2240023 [PubMed - indexed for MEDLINE]Related articles

Duplication of 16q and deletion of 15q.

Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K.

Am J Med Genet. 1989 Oct;34(2):183-6.PMID: 2816995 [PubMed - indexed for MEDLINE]Related articles

Inheritance of low-density lipoprotein subclass patterns: results of complex segregation analysis.

Hirschhorn K.

Am J Hum Genet. 1989 May;44(5):768. No abstract available. PMID: 2705459 [PubMed - indexed for MEDLINE]Related articlesFree article

Patient care, resident stress, and government regulation.

Cohen MI, Dancis J, Finberg L, Hirschhorn K, Katz M, Wasserman E.

Am J Dis Child. 1989 Feb;143(2):181-2. No abstract available. PMID: 2916488 [PubMed - indexed for MEDLINE]Related articles

Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity.

Tripathy D, Coleman RA, Vidaillet HJ Jr, Steenbergen C, Hirschhorn K, Packer DL.

Ann Intern Med. 1988 Dec 15;109(12):985-7. No abstract available. PMID: 3057987 [PubMed - indexed for MEDLINE]Related articles

A de novo translocation in a family with a balanced reciprocal chromosomal translocation.

Short MP, Gilbert F, Hirschhorn K.

Clin Genet. 1986 Feb;29(2):143-6.PMID: 3955864 [PubMed - indexed for MEDLINE]Related articles

Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.

Martiniuk F, Ellenbogen A, Hirschhorn K, Hirschhorn R.

Hum Genet. 1985;69(2):109-11.PMID: 3882552 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis.

Cramer A, Hirschhorn K.

Birth Defects Orig Artic Ser. 1985;21(5):9-35. Review. No abstract available. PMID: 2415180 [PubMed - indexed for MEDLINE]Related articles

Dominance and homozygosity in man.

Hirschhorn K.

Am J Med Genet. 1984 Jul;18(3):541. No abstract available. PMID: 6476010 [PubMed - indexed for MEDLINE]Related articles