Results 221 to 230 of about 281,706 (265)

Capturing variations in nuclear phenotypes

Journal of Computational Science, 2019
Relating genotypes with phenotypes is important to understand diseases like cancer, but extremelychallenging, given the underlying biological variability and levels of phenotypes. 3D quantitative toolsare increasingly used to provide robust inferences pertaining to variations across collections of cells.We especially focus on the changes wrought to the
Sundaresan Raman, Shantanu Singh, Thierry Pécot, Enrico Caserta, Kun Huang 0001, Jens Rittscher, Gustavo Leone, Raghu Machiraju   +7 more
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CYSTIC FIBROSIS: GENOTYPIC AND PHENOTYPIC VARIATIONS

Annual Review of Genetics, 1995
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial
Zielenski, J, Tsui, LC
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Phenotypical variations of tritanopia

Vision Research, 1966
Abstract The colorimetric investigation of six tritans is reported. The tritans are all members of the one family and three have been shown to be tritanopes. The other three tritans are trichromatic and have a defect which could be diagnosed as tritanomaly. It is postulated on the basis of this result and an examination of the tritanomals reported in
B.L. Cole, G.H. Henry, J. Nathan
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Identical mutations and phenotypic variation

Human Genetics, 1997
The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences.
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Phenotypic variation in Meckel syndrome

Clinical Genetics, 1981
Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal signs of Meckel syndrome ‐ encephalocoele and polycystic kidneys, lacking Polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57 % of cases have all the ...
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Phenotypic variation in the popliteal pterygium syndrome

Clinical Genetics, 1973
At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals were multiplex cases occurring in 10 families, while 20 were isolated cases: both dominant and recessive inheritance Of the trait have been proposed.
D, Bixler, C, Poland, W E, Nance
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Intra familial phenotypical variations in adrenoleukodystrophy

Neurology India, 2010
Adrenoleukodystrophy (ALD) is an X-linked recessively inherited peroxisomal disorder, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. It has a wide phenotypical variability ranging from symptomatic childhood cerebral form to the asymptomatic with biochemical defects only; sometimes
Gosalakkal, Jayaprakash, Balky, Anand Prasad   +1 more
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Phenotypic Variation in Sickle Cell Trait

Scandinavian Journal of Haematology, 1974
The proportion of haemoglobins S and A2 in 244 Nigerians with sickle cell trait was determined. Hb S was found to vary between 20 and 47.5 %, whilst Hb A2 ranged from 1.0 to 4.3 %. The variation of Hb S within families was found to be significantly less than between families.
G J, Esan, T A, Adesina
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Networks of phenotypic variation

Science, 2018
Evolution Evolution depends on phenotypic variation. Gene regulatory networks are theoretically expected to be likely sources of variation. Schaerli et al. explored how the structure of gene regulatory circuits contributes to the range of mutant phenotypes that are produced.
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Phenotypic Variation in Functional Disorders of Defecation

Gastroenterology, 2005
Although obstructed defecation is generally attributed to pelvic floor dyssynergia, clinical observations suggest a wider spectrum of anorectal disturbances. Our aim was to characterize phenotypic variability in constipated patients by anorectal assessments.Anal pressures, rectal balloon expulsion, rectal sensation, and pelvic floor structure (by ...
Adil E, Bharucha, Joel G, Fletcher, Barb, Seide, Stephen J, Riederer, Alan R, Zinsmeister   +4 more
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