Zobrazeno 1 - 10 of 21 pro vyhledávání: '"J R Korenberg"'
1
Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians
Autor: T, Shohat, M, Shohat, G M, Petersen, R S, Sparkes, D, Langfield, J, Bickal, J R, Korenberg, A D, Schwabe, J I, Rotter
Publikováno v: Clinical Genetics. 38:332-339
Familial Mediterranean fever is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. It is common in a variety of Mediterranean and near Eastern populations. The biochemical defect is unknown,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2948c5dd33eb7f87f5d4dae6675e4e
https://doi.org/10.1111/j.1399-0004.1990.tb03591.x
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3
[Williams syndrome. A summary of cognitive, electrophysiological, anatomofunctional, microanatomical and genetic findings]
Autor: A M, Galaburda, D, Holinger, D, Mills, A, Reiss, J R, Korenberg, U, Bellugi
Publikováno v: Revista de neurologia. 36
Williams syndrome (WS) is the result of a hemideletion of about 17 genes in the q11.22-23 region of chromosome 7. Patients with WS show unique phenotypic features that include elfin face, heart malformations, calcium metabolism problems and learning
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22d269933c2cc8446d5b2db6599df624
https://pubmed.ncbi.nlm.nih.gov/12599114
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4
Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
Autor: C M, Tuck-Muller, B K, Goodman, S, Li, J E, Martinez, X N, Chen, W, Wertelecki, J R, Korenberg, G, Stetten
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 3(2)
To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs).High resolution cytogenetics followed by fluorescence in situ hybridization (FISH) analysis usi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aad5d823eb99e77dd7d929ebaef4e298
https://pubmed.ncbi.nlm.nih.gov/11280950
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5
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Autor: C B, Cargile, I, McIntosh, M V, Clough, J, Rutberg, R, Yaghmai, B K, Goodman, X N, Chen, J R, Korenberg, G H, Thomas, M T, Geraghty
Publikováno v: American journal of medical genetics. 92(5)
The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::26418d19d8c2c17e17c791977b61f9d0
https://pubmed.ncbi.nlm.nih.gov/10861662
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6
Involvement of protein kinase Cepsilon (PKCepsilon) in thyroid cell death. A truncated chimeric PKCepsilon cloned from a thyroid cancer cell line protects thyroid cells from apoptosis
Autor: J A, Knauf, R, Elisei, D, Mochly-Rosen, T, Liron, X N, Chen, R, Gonsky, J R, Korenberg, J A, Fagin
Publikováno v: The Journal of biological chemistry. 274(33)
The protein kinase C (PKC) family has been implicated in the regulation of apoptosis. However, the contribution of individual PKC isozymes to this process is not well understood. We reported amplification of the chromosome 2p21 locus in 28% of thyroi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f4301a3bc3d583e7640827acb1484f73
https://pubmed.ncbi.nlm.nih.gov/10438519
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7
Mouse molecular cytogenetic resource: 157 BACs link the chromosomal and genetic maps
Autor: J R, Korenberg, X N, Chen, K L, Devon, D, Noya, M L, Oster-Granite, B W, Birren
Publikováno v: Genome research. 9(5)
We have established a collection of strong molecular cytogenetic markers that span the mouse autosomes and X chromosome at an average spacing of one per 19 Mb and identify 127 distinct band landmarks. In addition, this Mouse Molecular Cytogenetic Res
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8aa13253a073ed50b5ddcaa41b951102
https://pubmed.ncbi.nlm.nih.gov/10330132
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9
Physical and comparative mapping of distal mouse chromosome 16. 5 p5
Autor: D E, Cabin, J W, McKee-Johnson, L E, Matesic, T, Wiltshire, E E, Rue, A E, Mjaatvedt, Y K, Huo, J R, Korenberg, R H, Reeves
Publikováno v: Genome research. 8(9)
Distal mouse Chromosome 16 (Chr. 16) includes a region of conserved linkage with human Chromosome 21 (Chr. 21). Mouse models of Down syndrome based on trisomy of distal Chr. 16 have several phenotypes similar to those seen in human patients and have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3eb84a3b74b31852829a50e417727084
https://pubmed.ncbi.nlm.nih.gov/9750193
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10
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin
Autor: Y Q, Wu, V R, Sutton, E, Nickerson, J R, Lupski, L, Potocki, J R, Korenberg, F, Greenberg, M, Tassabehji, L G, Shaffer
Publikováno v: American journal of medical genetics. 78(1)
Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::84d66598313d2e8931a184b39d6dbc4c
https://pubmed.ncbi.nlm.nih.gov/9637430
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