Results 11 to 20 of about 513,197 (334)
Genotype–phenotype correlations in recessive titinopathies [PDF]
Genetics in Medicine, 2020 High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy
Giorgio Tasca +42 more
openaire +10 more sources
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
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 +4 more sources
Genotype-phenotype correlations in FSHD [PDF]
BMC Medical Genomics, 2019 Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically ...
Nikolay V. Zernov, Mikhail Skoblov
openaire +4 more sources
Correlations of genotype and phenotype in hypophosphatasia [PDF]
Human Molecular Genetics, 1999 Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. The disease is due to various mutations in the tissue-non-specific alkaline phosphatase ( TNSALP ) gene. We report here the use of clinical data, site-directed mutagenesis and computer-assisted modelling to propose ...
Zurutuza, L. +6 more
openaire +4 more sources
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 ...
James R. Gossage +18 more
openaire +4 more sources
Genotype-phenotype correlation in pseudoxanthoma elasticum [PDF]
Atherosclerosis, 2021 Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs.ABCC6 sequencing was performed in ...
Jonas W. Bartstra +15 more
openaire +5 more sources
Genetic correlates of phenotypic heterogeneity in autism [PDF]
Nature Genetics, 2020 AbstractThe substantial phenotypic heterogeneity in autism limits our understanding of its genetic aetiology. To address this gap, we investigated genetic differences between autistic individuals (Nmax= 12,893) based on core (i.e., social communication difficulties, and restricted and repetitive behaviours) and associated features of autism, co ...
Varun Warrier +82 more
openaire +9 more sources
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations [PDF]
Movement Disorders, 2012 AbstractTHAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns.
Nikolaos Scarmeas +13 more
openaire +2 more sources
Genotype–Phenotype Correlations in Angelman Syndrome [PDF]
Genes, 2021 Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral
Yi Wang +5 more
openaire +3 more sources