Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Alessandra M.V. Duncan"'
Publikováno v:
Clinical Genetics. 29:516-522
An isolated case of Duchenne muscular dystrophy in a 15-year-old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several differ
Publikováno v:
Leukemia & Lymphoma. 44:1001-1009
Patients with relapsed or refractory lymphoma often require treatment with aggressive chemotherapy. At McGill University, a combination of high dose VP-16 and cyclophosphamide (VP-CY) is commonly used as a salvage regimen. In recent years, cytogeneti
Autor:
Aryn E. Martin, Michael Hefferon, Hirotaka Yamashiro, Mohamed M. Khalifa, Alessandra M.V. Duncan
Publikováno v:
Clinical Genetics. 49:318-320
We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the mo
Autor:
Brian H. Robinson, Alessandra M.V. Duncan, Hai-Shiene Chen, Catherine Duff, Mingfu Ling, Frank Merante
Publikováno v:
Gene. 197:325-336
The human mitochondrial elongation factor Tu (EF-Tu) is nuclear-encoded and functions in the translational apparatus of mitochondria. The complete human EF-Tu cDNA sequence of 1677 base pairs (bp) with a 101 bp 5'-untranslated region, a 1368 bp codin
Publikováno v:
Prenatal Diagnosis. 17:665-669
A woman carrying a balanced reciprocal translocation, 46,XX,t(2;5)(p23;p15)pat, was ascertained following the delivery of an anencephalic fetus whose karyotype was 46,XY,5p+. She subsequently had two pregnancies with a similar unbalanced karyotype (t
Publikováno v:
Genome. 40:325-331
The chromosomal location of human cytochrome c oxidase (COX) subunit VIa Liver (VIa-L) isoform related sequences has been determined by a combination of in situ hybridization and analysis of human–hamster somatic cell hybrid panels. COX VIa-L relat
Autor:
Alessandra M.V. Duncan, Frank Merante, Joanna Rommens, Grant A. Mitchell, Brian H. Robinson, Catherine Duff
Publikováno v:
Genome. 40:318-324
The chromosomal loci corresponding to human cytochrome c oxidase (COX) subunit VIIa Liver (VIIa-L) isoform genes were determined utilizing a combined approach of genomic cloning, in situ hybridization, and somatic cell hybrid genetics. In contrast to
Publikováno v:
Genomics. 37:375-380
The cDNA for the PSST subunit of human mitochondrial nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase [complex I; NADH dehydrogenase (ubiquinone), Fe-S (20 kDa); EC 1.6.5.3] was generated by polymerase chain reaction (PCR) amplific
Publikováno v:
American Journal of Medical Genetics. 65:104-108
Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mi
Autor:
Marie-France Robert, Youssef Boukaftane, Grant A. Mitchell, Keith Schappert, Julie Sarrazin, Damian Labuda, Shupei Wang, Alessandra M.V. Duncan
Publikováno v:
Genomics. 23:552-559
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (mHS) is the first enzyme of ketogenesis, whereas the cytoplasmic HS isozyme (cHS) mediates an early step in cholesterol synthesis. We here report the sequence of human and mouse liver mHS cDNAs,