Results 21 to 30 of about 305,611 (291)
Genotype–phenotype correlations within the Geodermatophilaceae [PDF]
Frontiers in Microbiology, 2022 The integration of genomic information into microbial systematics along with physiological and chemotaxonomic parameters provides for a reliable classification of prokaryotes. In silico analysis of chemotaxonomic traits is now being introduced to replace characteristics traditionally determined in the laboratory with the dual goal of both increasing ...
Maria del Carmen Montero-Calasanz +6 more
openaire +4 more sources
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +1 more source
Genotype-Phenotype Correlations in PMM2-CDG [PDF]
Genes, 2021 PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
Vaes, Laurien +7 more
openaire +3 more sources
Genetic analysis of Turner syndrome in Tunisian patients: from diagnosis to management
Journal of the Arab Society for Medical Research, 2023 Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide range of clinical stigmata of which short stature, ovarian dysgenesis, and dysmorphic features ...
Olfa Siala-Sahnoun +7 more
doaj +1 more source
Genotype-phenotype correlation in 22q11.2 deletion syndrome
BMC Medical Genetics, 2012 Background The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations.
Michaelovsky Elena +8 more
doaj +1 more source
Genotype–Phenotype Correlations in Children with HHT [PDF]
Journal of Clinical Medicine, 2020 Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central ...
Alexandra Kilian +16 more
openaire +4 more sources
Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation
Medicina, 2019 Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation.
Agnė Čerkauskaitė +9 more
doaj +1 more source
Identification of causal genes for complex traits. [PDF]
, 2015 MotivationAlthough genome-wide association studies (GWAS) have identified thousands of variants associated with common diseases and complex traits, only a handful of these variants are validated to be causal.
Eskin, Eleazar +4 more
core +1 more source
Evolution of Thriftiness: An analytical viewpoint [PDF]
, 2008 We examine here, using a simple mathematical model, the conditions under which thrifty genes or fetal programming could evolve. Obesity and related disorders are thought to have their roots in metabolic thirftiness that evolved to combat periodic ...
Milind Watve, Prajakta Belsare
core +2 more sources
Genotype–phenotype correlation in long QT syndrome families
Indian Pacing and Electrophysiology Journal, 2015 Heterogeneity in clinical manifestations is a well-known feature in Long QT Syndrome (LQTS). The extent of this phenomenon became evident in families wherein both symptomatic and asymptomatic family members are reported.
Sameera Fatima Qureshi +8 more
doaj +1 more source