Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Geraldine McDowell"'
Autor:
Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M. Okamoto, Geraldine McDowell, Melissa A. Hayden, Narasimhan Nagan
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-10 (2018)
Abstract Background Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic a
Externí odkaz:
https://doaj.org/article/ce4dfad6377e4430a37f157d75ea052f
Autor:
Patricia M. Okamoto, Ute Geigenmüller, Narasimhan Nagan, Joshua Suhl, Melissa A. Hayden, Ekaterina Bogdanova, Wenjie Chen, Daniel S. Lupu, Katelyn S. Weymouth, Qiandong Zeng, Debbie Boles, Wei S. Kelly, Geraldine McDowell, Sabrina A. Gardner
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-10 (2018)
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-10 (2018)
Background Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64acfe538fb1afbe84832560bfd0cb06
https://doi.org/10.1186/s13053-017-0083-8
https://doi.org/10.1186/s13053-017-0083-8
Autor:
Geraldine McDowell, Tina M. Cowan, William A. Gahl, Piero Rinaldo, Robert E Grier, Isa Bernardini
Publikováno v:
Genetics in Medicine. 6:66-68
Determination of plasma amino acid levels has become a key piece of information in the diagnosis and clinical management of a group of metabolic genetic disorders. Appropriate laboratory methodologies have been published for amino acid analysis, yet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42fae2abe56aa40a829f46abe026a136
https://doi.org/10.1097/01.gim.0000106163.35058.7d
https://doi.org/10.1097/01.gim.0000106163.35058.7d
Autor:
Geraldine McDowell, Miriam G. Blitzer
Publikováno v:
Clinics in Laboratory Medicine. 12:463-480
Without available treatments for most inborn errors of metabolism, prevention of disease by identification of couples at risk has been a goal of both geneticists and health care providers. This article, using Tay-Sachs disease as an example, focuses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3273a2ecd7272fcad16c49cfb04428e4
https://doi.org/10.1016/s0272-2712(18)30500-6
https://doi.org/10.1016/s0272-2712(18)30500-6
Autor:
Leah A. Stephenson, Margaret M. Town, Jerry A. Schneider, Martin Farrall, Geraldine McDowell, William A. Gahl, Jean Weissenbach, Christopher G. Mathew, Mihael H. Polymeropoulos, William van’t Hoff
Publikováno v:
Nature Genetics. 10:246-248
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes1. Cystine storage leads to acidosis, dehydration, rickets and growth retardation in the first year of life, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e2da2eb58bb3ff9b9cf94b2511aa693
https://doi.org/10.1038/ng0695-246
https://doi.org/10.1038/ng0695-246
Autor:
Geraldine McDowell, Stephen M. Beckstrom-Sternberg, William A. Gahl, Nicole Dietrich, Vorasuk Shotelersuk, Gerard G. Bouffard, Jeffrey W. Touchman, Yair Anikster, Valerie Maduro, Eric D. Green
Publikováno v:
Genome research. 10(2)
Nephropathic cystinosis is a rare autosomal recessive, lysosomal storage disease with an incidence estimated at 1 per 100,000–200,000 live births (see http://www.ncbi.nlm.nih.gov/omim; OMIM 219800). The classic disorder is characterized clinically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544388788ff3341e065fa17bc5cf8cc8
https://pubmed.ncbi.nlm.nih.gov/10673275
https://pubmed.ncbi.nlm.nih.gov/10673275
Autor:
Cynthia Lucero, Ronald Jaffe, Marjan Huizing, Vorasuk Shotelersuk, Geraldine McDowell, Muriel I. Kaiser-Kupfer, Jess G. Thoene, Jerry A Schneider, Fumino Iwata, Yair Anikster, Juanru Guo, William A. Gahl, Isa Bernardini
Publikováno v:
Scopus-Elsevier
Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis, is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease. We determined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c6a032a637e212b75d184f5f16e21b
https://pubmed.ncbi.nlm.nih.gov/10625078
https://pubmed.ncbi.nlm.nih.gov/10625078
Autor:
Cynthia Lucero, Eric D. Green, William A. Gahl, Yair Anikster, Vorasuk Shotelersuk, Geraldine McDowell, Jeffrey W. Touchman, Marjan Huizing
Publikováno v:
Molecular genetics and metabolism. 66(2)
The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany. Although homozygotes for this deletion are detectable by the absence of the D17S829 polymorphic marker, no method exists to identify het
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4ccee1838db086a69b0fee0ff37e7a
https://pubmed.ncbi.nlm.nih.gov/10068513
https://pubmed.ncbi.nlm.nih.gov/10068513
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 76(5)
Nephropathic cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the disulfide amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::761175788f305e232b07bff54fbfd024
https://pubmed.ncbi.nlm.nih.gov/9587063
https://pubmed.ncbi.nlm.nih.gov/9587063
Autor:
William A. Gahl, Geraldine McDowell
Publikováno v:
Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.). 215(2)
Disorders of glycoprotein synthesis have been described only recently, and few have been studied extensively at both the clinical and biochemical level. The identification and characterization of these rare diseases are important, not only for the pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c563120f7adae946bc3e951ae4defc
https://pubmed.ncbi.nlm.nih.gov/9160042
https://pubmed.ncbi.nlm.nih.gov/9160042