RochelleHirschhornMD

PubMed

• A Conversation with Kurt and Rochelle Hirschhorn.
  Hirschhorn, K., Hirschhorn, R., Hirschhorn, J. N.> ;Annual review of genomics and human genetics. 2017 Feb 2
• 1 citations
  2013 Victor A. McKusick Leadership Award Addresses.
  Hirschhorn, K., Hirschhorn, R.> ;American journal of human genetics. 2014 Mar 13
• De Minimis Risk: A Proposal for a New Category of Research Risk
  Rosamond Rhodes, Jody Azzouni, Stefan Bernard Baumrin, Keith J. Benkov, Martin J. Blaser, Barbara Brenner, Joseph W. Dauben, William James Earle, Laurence E. Frank, Na...> ;American Journal of Bioethics. 2011 Nov 2
• 67 citations
  In vivo reversion to normal of inherited mutations in humans.
  Hirschhorn, R.> ;Journal of medical genetics. 2003 Oct 22
• 3 citations
  Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
  Hirschhorn, R., Huie, M. L., Kasper, J. S.> ;Proceedings of the National Academy of Sciences of the United States of America. 2002 Oct 9
• Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is del...
  Hamid Moallem, Gladys Taningo, Chuan-Kui Jiang, Rochelle Hirschhorn, Senih Fikrig> ;Clinical Immunology. 2002 Oct 1
• 14 citations
  Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intra...
  Maryann L. Huie, Kwame Anyane-Yeboa, Edwin Guzman, Rochelle Hirschhorn> ;American Journal of Human Genetics. 2002 Apr 1
• Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
  Roberto Fernandez-Hojas, Maryann L. Huie, Carmen Navarro, Carmen M. Dominguez, Manuel Roig, Diana Lopez-Coronas, Susana Teijeira, Kwame Anyane-Yeboa, Rochelle Hirschhorn> ;Neuromuscular Disorders. 2002 Feb 1
• 30 citations
  SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.
  Meek, K., Kienker, L., Dallas, C., Wang, W., Dark, M. J., Venta, P. J., Huie, M. L., Hirschhorn, R., Bell, T.> ;Journal of immunology (Baltimore, Md. : 1950). 2001 Aug 8
• 18 citations
  Intercellular Transfer of the Virally Derived Precursor Form of Acid α-Glucosidase Corrects the Enzyme Deficiency in Inherited Cardioskeletal Myopathy Pompe Disease
  Daniel F. Pauly M.D., Thomas J. Fraites, Catalin Toma, Helen S. Bayes, Maryann L. Huie, Rochelle Hirschhorn, Paul H. Plotz, Nina Raben, Paul D. Kessler, Barry J. Byrne> ;Human Gene Therapy. 2001 Mar 20
• 19 citations
  Frequent mutations in Japanese patients with acid maltase deficiency.
  Tsujino, S., Huie, M., Kanazawa, N., Sugie, H., Goto, Y., Kawai, M., Nonaka, I., Hirschhorn, R., Sakuragawa, N.> ;Neuromuscular disorders : NMD. 2000 Oct 29
• Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutati...
  Maryann L. Huie, J. S. Kasper, Pamela Arn, Cheryl R. Greenberg, Rochelle Hirschhorn> ;American Journal of Medical Genetics. 1999 Jul 2
• Murine Acid α-Glucosidase: Cell-Specific mRNA Differential Expression during Development and Maturation
  Elvira Ponce, David P. Witte, Rochelle Hirschhorn, Maryann L. Huie, Gregory A. Grabowski> ;American Journal of Pathology. 1999 Apr 1
• 12 citations
  A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
  Huie, M. L., Shanske, A. L., Kasper, J. S., Marion, R. W., Hirschhorn, R.> ;Human genetics. 1999 Mar 10
• Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white popu...
  R Hirschhorn, M L Huie> ;Journal of medical genetics. 1999 Jan 1
• The African origin of the common mutation in African American patients with glycogen-storage disease type II.
  J A Becker, J Vlach, N Raben, K Nagaraju, E M Adams, M M Hermans, A J Reuser, S S Brooks, C J Tifft, R Hirschhorn, M L Huie, M Nicolino, P H Plotz> ;American journal of human genetics. 1998 Apr 1
• Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosida...
  M L Huie, S Tsujino, S Sklower Brooks, A Engel, E Elias, D T Bonthron, C Bessley, S Shanske, S DiMauro, Y I Goto, R Hirschhorn> ;Biochemical and biophysical research communications. 1998 Mar 27
• An Adenosine Deaminase (ADA) Allele Contains Two Newly Identified Deleterious Mutations (Y97C and L106V) That Interact to Abolish Enzyme Activity
  C.-K. Jiang, R. Hong, S. D. Horowitz, Xiang-Peng Kong, R. Hirschhorn> ;Human Molecular Genetics. 1997 Dec 1
• Wound Healing Is Accelerated by Agonists of Adenosine A2 (Gαs-linked) Receptors
  M. Carmen Montesinos, Pratap Gadangi, Michael T. Longaker, Joanne Sung, Jamie P. Levine, Diana Nilsen, Joan Reibman, Min Li, Chuan-Kui Jiang, Rochelle Hirschhorn, Phoe...> ;Journal of Experimental Medicine. 1997 Nov 3
• 4 citations
  Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabol...
  Rochelle Hirschhorn, William Borkowsky, C.-K. Jiang, D. R. Yang, Trefor Jenkins> ;Human Genetics. 1997 Jun 19
• 116 citations
  Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
  Rochelle Hirschhorn, Diana Ruixi Yang, Jennifer M. Puck, Maryann L. Huie, Chuan-Kui Jiang, Lawrence E. Kurlandsky> ;Nature Genetics. 1996 Jul 1
• Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.
  Wen-Lin Kuo, Rochelle Hirschhorn, Maryann L. Huie, Kurt Hirschhorn> ;Human Genetics. 1996 Mar 1
• 35 citations
  Adenosine deaminase deficiency: molecular basis and recent developments.
  Hirschhorn, R.> ;Clinical immunology and immunopathology. 1995 Sep 1
• Identification of C1q as the heat-labile serum cofactor required for immune complexes to stimulate endothelial expression of the adhesion molecules E-selectin and inte...
  Carlos Lozada, Richard I. Levin, Maryann L. Huie, Rochelle Hirschhorn, Dwight Naime, M B Whitlow, Phoebe A. Recht, Brian D. Golden, Bruce N. Cronstein> ;Proceedings of the National Academy of Sciences of the United States of America. 1995 Aug 29
• 7 citations
  Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a nove...
  M L Huie, A S Chen, S Tsujino, S Shanske, S DiMauro, A G Engel, R Hirschhorn> ;Human molecular genetics. 1994 Dec 1
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