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Genotype-Phenotype Correlation in Gemistocytic Astrocytomas
Neurosurgery, 2001Gemistocytic 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 +2 more
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Genotype–phenotype correlations in Fanconi anemia
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2009Although 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 +3 more
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Genotype-Phenotype Correlations in Breast Cancer
Surgical Pathology Clinics, 2018Only 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 correlation: Familial Parkinson disease
Neuropathology, 2003Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD ...
Hideo, Mori +2 more
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Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations
Congenital Anomalies, 2015AbstractWe report a case of a 13‐year‐old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array‐comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders.
Donatella, Milani +8 more
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Distal 5q deletion syndrome: Phenotypic correlations
American Journal of Medical Genetics, 2001We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly 4th and 5th
I A, Schafer +5 more
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Genotype/phenotype correlations in Wilms' tumor
Medical and Pediatric Oncology, 1996Study 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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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
exaly
Genotype-Phenotype Correlation in Trichilemmal Cysts
Journal of Investigative Dermatology, 2021Ahmed Yousaf +5 more
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