Results 261 to 270 of about 305,611 (291)

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
openaire   +2 more sources

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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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
openaire   +2 more sources

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
openaire   +2 more sources

Genotype-Phenotype Correlation in Hemophilia A

2001
Hemophilia is understood as a disturbance of the blood coagulation system and includes hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency), and von Willebrand’s disease (VWD). Because of limited resources, the project will concentrate on X-linked hemophilia A.
J. Graw, H.-H. Brackmann, J. Oldenburg, W. Schramm, R. Schwaab   +4 more
openaire   +1 more source

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective

International Journal of Molecular Sciences, 2023
jieun Seo, Saeam Shin, Myeongseob Lee
exaly  

Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis

Clinical Genetics, 2022
Yang LiQing, Yuping Gong
exaly  

Genotype-Phenotype Correlation in Wilson Disease

Journal of Clinical Gastroenterology, 2010
Simon, Horslen, Si Houn, Hahn
openaire   +2 more sources

Huntington Disease in Children: Genotype-Phenotype Correlation

Neuropediatrics, 2000
Astrid Rasmussen, Adriana Ochoa
exaly