Zobrazeno 1 - 10
of 18
pro vyhledávání: '"K H, Orstavik"'
Publikováno v:
Annals of the New York Academy of Sciences. 954
Despite differences in research traditions, the disciplines of genetics, epidemiology, and demography are becoming increasingly integrated in health-related research. The enormous development within genetic technology, with the possibility of genotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1966788cd79062aea72d972288ea705
https://pubmed.ncbi.nlm.nih.gov/11797856
https://pubmed.ncbi.nlm.nih.gov/11797856
Publikováno v:
American journal of medical genetics. 91(3)
Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::29e9f1de565dbfc7d94ed06ae9debfe1
https://pubmed.ncbi.nlm.nih.gov/10756349
https://pubmed.ncbi.nlm.nih.gov/10756349
Autor:
K H, Orstavik
Publikováno v:
Lakartidningen. 96(50)
In female mammals one of the two X chromosomes is inactivated in early embryonic life. Females are therefore mosaics for two cell types, cells with the maternal X as the active X chromosome, and cells with the paternal X as the active X chromosome. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2865f439081bcc6192120d61a9f4cbb
https://pubmed.ncbi.nlm.nih.gov/10643233
https://pubmed.ncbi.nlm.nih.gov/10643233
Autor:
K H, Orstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 119(6)
Clinical experience and molecular genetics have demonstrated several exceptions to Mendelian inheritance in man. Genomic imprinting is a mechanism that regulates expression or repression of genes according to their parental origin. The phenotypic exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d33416dea8532bd9a2a06a2c52452d62
https://pubmed.ncbi.nlm.nih.gov/10101947
https://pubmed.ncbi.nlm.nih.gov/10101947
Publikováno v:
Human genetics. 103(4)
We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ddf3b34909f76b29dae9455252d3c59
https://pubmed.ncbi.nlm.nih.gov/9856488
https://pubmed.ncbi.nlm.nih.gov/9856488
Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
Publikováno v:
American journal of medical genetics. 78(3)
We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d56f1ea746a26a97c31138188cbd787
https://pubmed.ncbi.nlm.nih.gov/9677062
https://pubmed.ncbi.nlm.nih.gov/9677062
Publikováno v:
American journal of medical genetics. 75(3)
Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. Various other defects, including eye and kidney malformat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::28e45c170d4ca561d36102bc898b2d5f
https://pubmed.ncbi.nlm.nih.gov/9475602
https://pubmed.ncbi.nlm.nih.gov/9475602
Autor:
K H, Orstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 117(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::32f28098ca35d5146fdcf4bca7793113
https://pubmed.ncbi.nlm.nih.gov/9198916
https://pubmed.ncbi.nlm.nih.gov/9198916
Publikováno v:
American journal of medical genetics. 64(1)
A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::946b4f5a6959794fabfbbc15a4ac6a81
https://pubmed.ncbi.nlm.nih.gov/8826445
https://pubmed.ncbi.nlm.nih.gov/8826445
Autor:
O, Rösby, P, Strömme, M, Sandsmark, K, Ramstad, E, Ormerod, C, Birger van der Hagen, T, Kubota, D H, Ledbetter, K H, Orstavik
Publikováno v:
Journal of craniofacial genetics and developmental biology. 16(2)
We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::814bf86711c3cf63624525e8301514ab
https://pubmed.ncbi.nlm.nih.gov/8773903
https://pubmed.ncbi.nlm.nih.gov/8773903