Zobrazeno 1 - 10
of 12
pro vyhledávání: '"L. J. C. Wong"'
Autor:
L-J C Wong, P Dai
Publikováno v:
Journal of Medical Genetics. 40:885-890
Background: AIB1 contains a polymorphic polyglutamine tract (poly Q) that is encoded by a trinucleotide CAG repeat. Previously there have been conflicting results regarding the effect of the poly Q tract length on breast cancer. Since poly Q is not e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098f0dda5f9c4c723549302a4044b248
https://doi.org/10.1136/jmg.40.12.885
https://doi.org/10.1136/jmg.40.12.885
Publikováno v:
Human Genetics. 103:199-203
Recent studies have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6-phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified. Thus, informative polymorphic markers are ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1d4411503cb61c03c41284b0b4802c
https://doi.org/10.1007/s004390050807
https://doi.org/10.1007/s004390050807
Autor:
L. J. C. Wong, Dinithi Senadheera
Publikováno v:
Clinical Chemistry. 43:1857-1861
Mitochondrial defects can be caused by mutations in nuclear or mitochondrial DNA. Large deletion/duplication and point mutations are the two major types of mitochondrial DNA (mtDNA) mutations. Comprehensive molecular diagnosis requires the analysis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76635a67c2e724acdc562bc336b0a462
https://doi.org/10.1093/clinchem/43.10.1857
https://doi.org/10.1093/clinchem/43.10.1857
Autor:
Ching-Wan Lam, L. J. C. Wong
Publikováno v:
Clinical Chemistry. 43:1241-1243
Since the molecular basis of the first mitochondrial DNA (mtDNA) disorder, Leber hereditary optic neuropathy (LHON), was established (1), mtDNA mutations have become increasingly more recognized as an important cause of genetic disease. The most comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d3ceb2e130c1241a38812f67dbe9c6d
https://doi.org/10.1093/clinchem/43.7.1241
https://doi.org/10.1093/clinchem/43.7.1241
Publikováno v:
European Journal of Pediatrics. 156:562-564
We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) was subsequently diagnosed and a nucleotide 3243 A--G muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c35a385e276a1b8e9d0b6991fc15f2af
https://doi.org/10.1007/s004310050663
https://doi.org/10.1007/s004310050663
Publikováno v:
Clinical genetics. 67(3)
We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, synda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52ccbacb96eae6177a1e86bfb61c5ed9
https://pubmed.ncbi.nlm.nih.gov/15691363
https://pubmed.ncbi.nlm.nih.gov/15691363
Publikováno v:
Journal of paediatrics and child health. 37(1)
A 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed75bd74a7afdd3f3f91af8e1d1a8ac4
https://pubmed.ncbi.nlm.nih.gov/11168879
https://pubmed.ncbi.nlm.nih.gov/11168879
Publikováno v:
European journal of pediatrics. 157(8)
Kearns Sayre syndrome (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular myopathy, pigmentary retinopathy, heart block and ataxia. Endocrinopathies are common in KSS, including growth hormone defic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8887e598d7cae242b767eb54fe3834f
https://pubmed.ncbi.nlm.nih.gov/9727847
https://pubmed.ncbi.nlm.nih.gov/9727847
The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected bec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c39e24a763498be62a9b1d9ad7a02b
https://europepmc.org/articles/PMC407986/
https://europepmc.org/articles/PMC407986/
Publikováno v:
Experientia. 46(5)
The schistosomicides, hycanthone, oxamniquine and praziquantel, were found to inhibit the in vitro RNA synthesis using isolated hamster liver nuclei. Preincubation of the nuclei with these drugs revealed that the inhibitory effect of oxamniquine was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0095f17966c148bbdbf4cc5ffe545de1
https://pubmed.ncbi.nlm.nih.gov/1693342
https://pubmed.ncbi.nlm.nih.gov/1693342