Results 301 to 310 of about 8,412,468 (340)

Craniosynostoses: Phenotypic/molecular correlations

American Journal of Medical Genetics, 1995
From the discovery of the first known human homeobox mutation in MSX2 for craniosynostosis of the Boston type by Jams to the recent report of 2 mutations in FGFR2 in Apert syndrome by Wilkie, it is clear that the molecular aspects of syndromes with craniosynostosis are becoming known at a dizzying pace. Four of the syndromes involve mutations in FGFR2.
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Genotype–Phenotype Correlations

2007
The recent genetic discoveries in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) permit genotype-phenotype correlation in an increasing number of subjects, providing better knowledge of the diagnostic criteria, natural history, and ethiopathogenesis of the disease. Three different groups of genes have been found to be linked to ARVC/
BAUCE, BARBARA, NAVA, ANDREA
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Genotype/phenotype correlations in familial hypercholesterolaemia

Current Opinion in Lipidology, 1998
It is now possible to identify the specific gene defect in the majority of patients with familial hypercholesterolaemia. A potential benefit of this knowledge, in addition to helping with family screens, is to be able to predict the future clinical course. In order to do this, detailed genotype/phenotype correlation studies are required.
Nicholls, P., Young, I.S., Graham, C.A.
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Genotype-phenotype correlations in Noonan syndrome

The Journal of Pediatrics, 2004
OBJECTIVE To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome (NS). Study design Fifty-seven unrelated patients with the clinical diagnosis of NS ascertained according to standardized inclusion criteria were prospectively enrolled.
Zenker, Martin, Buheitel, Gernot, Rauch, Ralf, Koenig, Rainer, Bosse, Kirstin, Kress, Wolfram, Tietze, Hans-Ulrich, Doerr, Helmuth-Guenther, Hofbeck, Michael, Singer, Helmut, Reis, André, Rauch, Anita   +11 more
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Genotype-Phenotype Correlation in Gemistocytic Astrocytomas

Neurosurgery, 2001
Gemistocytic astrocytomas often behave aggressively and carry the least favorable prognosis among diffuse astrocytomas. The frequency of p53 mutations has been reported to be significantly higher in the gemistocytic variant as compared with other astrocytomas.Between 1985 and 1998, we selected 25 tumor samples from among 201 samples from patients with ...
S, Kösel, B W, Scheithauer, M B, Graeber   +2 more
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Genotype-Phenotype Correlations in Breast Cancer

Surgical Pathology Clinics, 2018
Only a few breast cancer histologic subtypes harbor distinct genetic alterations that are associated with a specific morphology (genotype-phenotype correlation). Secretory carcinomas and adenoid cystic carcinomas are each characterized by recurrent translocations, and invasive lobular carcinomas frequently have CDH1 mutations. Solid papillary carcinoma
Jonathan D, Marotti, Stuart J, Schnitt
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Genotype–phenotype correlations in Fanconi anemia

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2009
Although still incomplete, we now have a remarkably detailed and nuanced picture of both phenotypic and genotypic components of the FA spectrum. Initially described as a combination of pancytopenia with a limited number of physical anomalies, it was later recognized that additional features were compatible with the FA phenotype, including a form ...
Kornelia, Neveling, Daniela, Endt, Holger, Hoehn, Detlev, Schindler   +3 more
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The effects of phenotypic plasticity on genetic correlations

Trends in Ecology & Evolution, 1991
Recent theory suggests that genetic correlations should help to predict the simultaneous response to selection of two or more traits, and much recent research has been directed towards understanding the sources of variation in genetic correlations.
Stearns S, de Jong G, Newman B
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Phenotype-genotype correlation in haemochromatosis subjects

Human Genetics, 1997
Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identified (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status markers, primarily serum iron, serum ferritin and transferrin ...
C, Mura, J B, Nousbaum, P, Verger, M T, Moalic, O, Raguenes, A Y, Mercier, C, Ferec   +6 more
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Primary hyperoxaluria: Genotype-phenotype correlation

Journal of Nephrology, 2003
  Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanineglyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical and enzymological data to evaluate genotype-phenotype correlation.
Doroti, Pirulli, Martino, Marangella, Antonio, Amoroso   +2 more
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