Zobrazeno 1 - 10 of 136 pro vyhledávání: '"Rochelle Hirschhorn"'
1
A Conversation with Kurt and Rochelle Hirschhorn
Autor: Kurt Hirschhorn, Rochelle Hirschhorn, Joel N. Hirschhorn
Publikováno v: Annual Review of Genomics and Human Genetics. 18:31-44
In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4a938839fbcae332b9399abbbd99a7
https://doi.org/10.1146/annurev-genom-080316-090927
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2
In vivo reversion to normal of inherited mutations in humans
Autor: Rochelle Hirschhorn
Publikováno v: Journal of Medical Genetics. 40:721-728
There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c43f6a270dccb5fa42fde53b951af8
https://doi.org/10.1136/jmg.40.10.721
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3
Purine Nucleoside Phosphorylase Deficiency: A New Case Report and Identification of Two Novel Mutations (Gly156A1a and Val217Ile), Only One of Which (Gly156A1a) is Deleterious
Autor: Senih Fikrig, Hamid Moallem, Rochelle Hirschhorn, Chuan-Kui Jiang, Gladys Taningo
Publikováno v: Clinical Immunology. 105:75-80
Purine nucleoside phosphorylase (PNP) deficiency results in an autosomal recessive immunodeficiency disease characterized by initial involvement of cellular immunity and neurological manifestations with subsequent abnormalities of humoral immunity. T
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fddda9b8c0550e1cacb238582ccbda7
https://doi.org/10.1006/clim.2002.5264
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4
Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II
Autor: Edwin Guzman, Maryann L. Huie, Rochelle Hirschhorn, Kwame Anyane-Yeboa
Publikováno v: The American Journal of Human Genetics. 70(4):1054-1057
Current methods for detection of mutations by polymerase chain reaction (PCR) and sequence analysis frequently are not able to detect heterozygous large deletions. We report the successful use of a novel approach to identify such deletions, based on
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71a6e2d572a05838d46fac0d24eabf5
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5
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)
Autor: Rochelle Hirschhorn, Carmen Navarro, Roberto Fernandez-Hojas, Maryann L. Huie, Carmen Domínguez, Manuel Roig, Kwame Anyane-Yeboa, Diana Lopez-Coronas, Susana Teijeira
Publikováno v: Neuromuscular Disorders. 12:159-166
Glycogen storage disease type II is an autosomal recessive muscle disorder due to deficiency of lysosomal acid α-glucosidase and the resulting intralysosomal accumulation of glycogen. We found six novel mutations in three Spanish classic infantile o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47123751cce45027042f1c4997fc112
https://doi.org/10.1016/s0960-8966(01)00247-4
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8
ADA Deficiency – The First Described Genetic Defect Causing PID
Autor: Hilaire J. Meuwissen, Rochelle Hirschhorn, Michael S. Hershfield
The serendipitous discovery of adenosine deaminase (ADA) deficiency in 1972 preceded by two decades the identification of gene defects in other forms of severe combined immune deficiency (SCID). During that interval, a great deal was accomplished: wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::93873722b1abda0d579bd38cbd89aec3
https://doi.org/10.1016/b978-0-12-407179-7.00020-5
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9
Frequent mutations in Japanese patients with acid maltase deficiency
Autor: Mitsuru Kawai, Naomi Kanazawa, Norio Sakuragawa, Hideo Sugie, Rochelle Hirschhorn, Ikuya Nonaka, Maryann L. Huie, Seiichi Tsujino, Yu-ichi Goto
Publikováno v: Neuromuscular Disorders. 10:599-603
We screened 22 Japanese patients with acid maltase deficiency (seven with the infantile type, eight with the juvenile type and seven with the adult type) for three previously described mutations, D645E, S529V and R672Q, and a novel mutation, R600C. A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dbdf4477f951bb57820cc352bc03527
https://doi.org/10.1016/s0960-8966(00)00142-5
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10
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 mutations including a novel nonsense mutation Gln58Stop
Autor: Rochelle Hirschhorn, Maryann L. Huie, Pamela Arn, Cheryl R. Greenberg, J. S. Kasper
Publikováno v: American Journal of Medical Genetics. 85:5-8
Genetic deficiency of lysosomal acid alpha-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and car
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a08d1deece276d0bba8688191adb5af
https://doi.org/10.1002/(sici)1096-8628(19990702)85:1<5::aid-ajmg3>3.0.co
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