Results 231 to 240 of about 58,360 (267)

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.
openaire   +3 more sources

Updated Genotype-Phenotype Correlations in TSC

Seminars in Pediatric Neurology, 2023
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259-273 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes.
Paolo, Curatolo, Marina, Trivisano, Nicola, Specchio   +2 more
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Genotype phenotype correlation in achondroplasia and hypochondroplasia

The Journal of Bone and Joint Surgery. British volume, 1998
Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients ...
Y, Matsui, N, Yasui, T, Kimura, N, Tsumaki, H, Kawabata, T, Ochi   +5 more
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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004
Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease.To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with ...
MILLER TM, DIAS DA SILVA MR, MILLER HA, KWIECINSKI H, MENDELL JR, TAWIL R, MCMANIS P, GRIGGS RC, ANGELINI, CORRADO, SERVIDEI S, PETAJAN J, DALAKAS MC, RANUM LP, FU YH, PTACEK L.J.   +14 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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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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Genotype/phenotype correlations in Wilms' tumor

Medical and Pediatric Oncology, 1996
Study of genotype/phenotype relationships involving the Wilms' tumor (WT) gene, WT1, in WT patients has provided insights into the function of the WT1 protein, a transcriptional regulator, and has suggested possible mutational mechanisms important in the etiology of WT.
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Genotype-Phenotype Correlation in Trichilemmal Cysts

Journal of Investigative Dermatology, 2021
Ahmed Yousaf, Rachel Tallman, Steven Katzman, Chad Brady, Wei Fang, Michael S. Kolodney   +5 more
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