Results 311 to 320 of about 536,745 (332)

Genotype – phenotype correlation in FAP

Amyloid, 2012
Familial Amyloidotic Polyneuropathy (FAP) was initially classified into different types based on the clinical presentation. FAP Type I included patients with predominant upper limb neuropathy, while Type II patients had initial lower limb involvement. Further confusing the issue was the description of FAP Types III and IV, which proved to result from ...
openaire   +2 more sources

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

European Journal of Medical Genetics, 2015
Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells.
Banu Guzel, Nur, Pinar, Gencpinar, Ayse, Yuzbasıoglu, Serap Dokmeci, Emre, Ercan, Mihci   +4 more
openaire   +2 more sources

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

Genotype-phenotype correlations in Noonan syndrome

The Journal of Pediatrics, 2004
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
openaire   +2 more sources

Primary hyperoxaluria: genotype-phenotype correlation.

Journal of nephrology, 2003
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate 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.
Pirulli, Doroti, Marangella, Martino, Amoroso, Antonio   +2 more
openaire   +2 more sources

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 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
openaire   +2 more sources

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 correlation: Familial Parkinson disease

Neuropathology, 2003
Kindreds 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, Nobutaka, Hattori, Yoshikuni, Mizuno   +2 more
openaire   +2 more sources

Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations

Congenital Anomalies, 2015
AbstractWe 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, Caterina, Sabatini, Francesca Maria Paola, Manzoni, Paola Francesca, Ajmone, Claudia, Rigamonti, Michela, Malacarne, Mauro, Pierluigi, Simona, Cavani, Maria Antonella, Costantino   +8 more
openaire   +2 more sources