نتایج جستجو برای: q44

تعداد نتایج: 46  

Journal: :Journal of medical genetics 1995
A Schinzel I Lorda-Sanchez F Binkert N P Carter C E Bebb M A Ferguson-Smith U Eiholzer M Zachmann W P Robinson

Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome...

2000
P. Katikou

The CEM rapid extraction method for lipid content determination was compared with official standard methods and was found to give accurate results for individual samples, taking approximately 8 min per sample. The study involved the lipid analysis of 47 white muscle samples from six fillets of farmed Atlantic salmon, using both the CEM and the Soxhlet method, in order to evaluate the performanc...

2000
W. J. Roy

Ž . Ž . Atlantic salmon weight range 289–484 g and rainbow trout weight range 166–387 g , held in seawater, were fed medicated diets containing graded levels of emamectin benzoate for 7 days. y1 y1 Ž Nominal dose rates were 0, 100, 250 and 500 mg kg body weight day equivalent to 0, 2, 5 . and 10 times recommended dose rate for treatment of sea lice . Fish were observed for a further 7 days to d...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 1996
I Bièche G de Murcia R Lidereau

The poly(ADP-ribose) polymerase gene is involved in DNA repair, cell proliferation, differentiation, and malignant transformation. Because dysregulation of PARP expression might lead to genetic instability in human tumors, we examined PARP gene expression and genetic instability in 35 primary human breast carcinomas. Genetic instability was studied by analyzing nine genetic abnormalities among ...

Journal: :Human molecular genetics 1997
M A Karim D L Nagle H H Kandil J Bürger K J Moore R A Spritz

Chediak-Higashi syndrome (CHS) is a rare, usually fatal, autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, progressive neurologic dysfunction and a bleeding diathesis. The hallmark of CHS is giant organelles and giant granules in many different cell types, most likely the result of defective trafficking of specific organellar and granular proteins n...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 1995
I Bièche M H Champème R Lidereau

Alterations of the long arm of chromosome 1 are the most frequent cytogenetic abnormalities found in human breast carcinoma. We examined genetic alterations on chromosome 1q in 124 human breast tumors, using restriction fragment length polymorphism markers mapping to the long arm (13 markers) and short arm (4 markers). Imbalance of heterozygosity at one or more loci on the long arm was observed...

2016
Seong Woo Kim Jiyong Kim Ha Ra Jeon Min Jung Park Yoon Kim

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnos...

Journal: :Human molecular genetics 2005
Alka Malhotra Hilary Coon Mary F Feitosa Wei-Dong Li Kari E North R Arlen Price Claude Bouchard Steven C Hunt Johanna K Wolford

Genetic influences on lipid traits have been suggested by numerous studies. In addition to heritability studies, over 50 genome scans have been performed to identify regions of linkage for quantitative lipid levels. Five of these scans have been performed in African Americans (four univariate and one bivariate linkage analysis), but with results that have been largely inconclusive. Linkage anal...

2000
P. Ramasamy P. R. Rajan V. Purushothaman G. P. Brennan

Ž . Monodon baculoÕirus MBV occurred in the hepatopancreas of cultured larvae, zoea, mysis and post-larvae and in wild caught juveniles, sub-adults and brood stocks of Penaeus monodon. Infected larvae exhibited lethargy and reduced feeding and preening activities while infected juveniles, sub-adults and brooders exhibited normal behaviour. MBV-infected hepatopancreatic cells exhibited a 300% vo...

Journal: :Biophysical journal 1999
G Chen Z Jia

We employed computational techniques, including molecular docking, energy minimization, and molecular dynamics simulation, to investigate the ice-binding surface of fish type III antifreeze protein (AFP). The putative ice-binding site was previously identified by mutagenesis, structural analysis, and flatness evaluation. Using a high-resolution x-ray structure of fish type III AFP as a model, w...

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