Zobrazeno 1 - 10 of 23 pro vyhledávání: '"H H, Punnett"'
2
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome
Autor: X Y, Han, S S, Wu, D H, Conway, B R, Pawel, H H, Punnett, R A, Martin, J P, de Chadarevian
Publikováno v: American journal of medical genetics. 90(1)
An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::01c397c6d8e14f487363d3464f8d2ac9
https://pubmed.ncbi.nlm.nih.gov/10602117
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4
Maternal uniparental disomy of chromosome 21 in a normal child
Autor: P K, Rogan, D W, Sabol, H H, Punnett
Publikováno v: American journal of medical genetics. 83(1)
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding su
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::36bef13a0cebb9ae48f8221a8ba964c0
https://pubmed.ncbi.nlm.nih.gov/10076888
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5
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families
Autor: R M, Hughes-Benzie, G, Pilia, J Y, Xuan, A G, Hunter, E, Chen, M, Golabi, J A, Hurst, J, Kobori, K, Marymee, R A, Pagon, H H, Punnett, S, Schelley, J L, Tolmie, M M, Wohlferd, T, Grossman, D, Schlessinger, A E, MacKenzie
Publikováno v: American journal of medical genetics. 66(2)
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. We have used Southern blot analysis and polymerase
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2fea8ee75a4e95d39f39e57c2c14ab98
https://pubmed.ncbi.nlm.nih.gov/8958336
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7
Clinical manifestations of familial 13;18 translocation
Autor: M L Kistenmacher, E R Giblett, W A Blattner, H H Punnett, S Tsai
Publikováno v: Journal of Medical Genetics. 17:373-379
Female first cousins, aged 21 and 2 1/2 years, with many of the characteristic features of trisomy 18, were found to have identical unbalanced translocations, 46,XX,--13, + der(13)t(13;18) (p13;q12)mat. Clinical features of another cousin, two uncles
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0341e546d07a170c8597fda1a0e11a4e
https://doi.org/10.1136/jmg.17.5.373
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8
Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger
Autor: G A, de León, W D, Grover, D S, Huff, G, Morinigo-Mestre, H H, Punnett, M L, Kistenmacher
Publikováno v: Annals of neurology. 2(6)
In addition to a distinct malformation (pachymicrogyria, heterotaxic lamination of the cerebellar cortex, olivary dysplasia), unusual degenerative changes were found in the nervous system of 2 unrelated babies with the Zellweger syndrome. Cerebral cl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::85fb653b500429ad36c4627d72db66a9
https://pubmed.ncbi.nlm.nih.gov/617589
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10
Translocation 10;17 in clear cell sarcoma of the kidney. A first report
Autor: H H, Punnett, G E, Halligan, N, Zaeri, N, Karmazin
Publikováno v: Cancer genetics and cytogenetics. 41(1)
This is the first report of a t(10;17) as the unique cytogenetic finding in one case of a rare childhood tumor, clear cell sarcoma of the kidney (CCSK). This observation is discussed in relation to the cytogenetics of Wilms' tumors, of which CCSK is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ad361fe5192ba94bfaa36adc8b8e25f
https://pubmed.ncbi.nlm.nih.gov/2548705
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