Zobrazeno 1 - 10 of 38 pro vyhledávání: '"J S, Waye"'
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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome
Autor: E, Ciara, M J M, Nowaczyk, M, Witsch-Baumgartner, E, Malunowicz, E, Popowska, A, Jezela-Stanek, M, Piotrowicz, J S, Waye, G, Utermann, M, Krajewska-Walasek
Publikováno v: Clinical genetics. 66(6)
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Thirty-seven ethnic Polish patients with SLOS underwent mutation analysis. The mutation frequencies in Polish pati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6ba00d5389dfcd94cd746b3e757d83e
https://pubmed.ncbi.nlm.nih.gov/15521979
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5
Hb H hydrops foetalis syndrome: a case report and review of literature
Autor: F, Lorey, P, Charoenkwan, H E, Witkowska, J, Lafferty, M, Patterson, B, Eng, J S, Waye, J Z, Finklestein, D H, Chui
Publikováno v: British journal of haematology. 115(1)
Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three alpha-globin genes, leaving only one intact and active alpha-globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::54b1d3e6cf087d83fd6f7dd57e8cdf8c
https://pubmed.ncbi.nlm.nih.gov/11722414
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6
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G--C genotype
Autor: M J, Nowaczyk, S A, Farrell, W L, Sirkin, L, Velsher, P A, Krakowiak, J S, Waye, F D, Porter
Publikováno v: American journal of medical genetics. 103(1)
Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d6bf2e47bf923bef890e6b46fcf1b284
https://pubmed.ncbi.nlm.nih.gov/11562938
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7
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G--A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
Autor: M, Comabella, J S, Waye, N, Raguer, B, Eng, C, Domínguez, C, Navarro, C, Borrás, W, Krivit, X, Montalbán
Publikováno v: Annals of neurology. 50(1)
We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy. Arylsulfatase A (ARSA) activities were markedly redu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6afe5e98b33e03e5c848b122b30b6bd3
https://pubmed.ncbi.nlm.nih.gov/11456299
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8
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
Autor: M J, Nowaczyk, J S, Waye
Publikováno v: Clinical genetics. 59(6)
The brief history of the Smith-Lemli-Opitz syndrome (SLOS) (MIM 270400) reflects that of latter 20th century dysmorphology and biochemical and molecular genetics: from its first description as a rare but characteristic multiple malformation syndrome
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::81bb6be5a812aac836f498a8183510cd
https://pubmed.ncbi.nlm.nih.gov/11453964
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9
Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family
Autor: K F, Leung, W Y, Au, A Y, Chan, L C, Chan, J S, Waye, D H, Chui, S K, Ma
Publikováno v: Clinical and laboratory haematology. 23(1)
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is described. The Hb Q-Thailand mutation was found on the remaining alpha1 globin gene on a chromosome 16 containing the (-alpha 4.2) deletion. Active haem
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::164237b623b99ae3cdc4964c72943848
https://pubmed.ncbi.nlm.nih.gov/11422231
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