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pro vyhledávání: '"S, Kaffe"'
Akademický článek
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Publikováno v:
American journal of medical genetics. 102(1)
We report on a 4(1/2)-year-old girl, who presented with multiple minor anomalies consistent with trisomy for 4p. GTG-banding identified a de novo terminal inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ hybridization (FIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5933a38b57226514f23727050f1d7c68
https://pubmed.ncbi.nlm.nih.gov/11471177
https://pubmed.ncbi.nlm.nih.gov/11471177
Publikováno v:
American journal of medical genetics. 70(1)
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dff5a48db8c084a9d9bb7a8afc1d2e27
https://pubmed.ncbi.nlm.nih.gov/9129745
https://pubmed.ncbi.nlm.nih.gov/9129745
Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cb8822e40a353268d2945e631e3af4
https://europepmc.org/articles/PMC1049672/
https://europepmc.org/articles/PMC1049672/
Akademický článek
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Autor:
K. Hirschhorn, S. Kaffe
Publikováno v:
Prenatal Diagnosis. 12:976-976
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77b45200fdaf97ca46495fc5ea4da363
https://doi.org/10.1002/pd.1970121123
https://doi.org/10.1002/pd.1970121123
Publikováno v:
American Journal of Ophthalmology. 94:338-343
Hereditary retinoschisis affected eight members of three generations of a family. The mode of transmission and the clinical features were not compatible with findings noted in either X-chromosome-linked or autosomal recessive forms of retinoschisis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d759f6aa4ad0505494e063fb6263608
https://doi.org/10.1016/0002-9394(82)90359-2
https://doi.org/10.1016/0002-9394(82)90359-2
Publikováno v:
Journal of Biological Chemistry. 259:14094-14100
Cultured skin fibroblasts from a proband with an autosomal dominant variant of osteogenesis inperfecta were found to synthesize approximately equal amounts of normal pro-alpha 2(I) chains of type I procollagen and pro-alpha 2(I) chains which migrated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61e354b23580c541abe87cb9c865fcdc
https://doi.org/10.1016/s0021-9258(18)89861-1
https://doi.org/10.1016/s0021-9258(18)89861-1
Publikováno v:
Journal of Medical Genetics. 14:447-451
A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6287d274f259ec56b6b13bf11bb2627c
https://doi.org/10.1136/jmg.14.6.447
https://doi.org/10.1136/jmg.14.6.447
Akademický článek
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