نتایج جستجو برای: 13 families
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the “kuh-e-gorm” non-hunting area is located in the northwest of jahrom city, fars province, iran. since there is no adequate knowledge on fauna of this region, a survey was conducted on the vertebrate fauna of the region from april 2007 to april 2008. in total, 124 vertebrate species were identified including: 11 fishes (belong to 10 genera, four families and three orders), four amphibians (be...
Velo-cardio-facial syndrome (VCFS) is a congenital anomaly characterized by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities, that results from a microdeletion of chromosome 22q11. An increased prevalence of psychiatric illness has been observed, with both schizophrenia and bipolar disorder commonly being diagnosed. For these reasons, the VCFS region is an inter...
To study the macrobenthos of the lower reaches of Zayandehrud River, a distance of approximately 160 km, between Birds Garden and Varzaneh Town was investigated. Hence, eight stations, based on substrate structure, were selected using Sorber and Ekman samplers and PVC tube macrobenthos of the river were collected twice each season for a full year (2003-2004). Samples were sorted out and identif...
Open angle glaucoma (OAG) is a complex disorder with varying etiologies due to multiple genes and environmental effects. This genetic heterogeneity can confound efforts to map loci. Increased homogeneity in a sample can be achieved using either ordered subset analysis (OSA) which groups families, or individual OSA (IOSA), which groups individuals based on disease related covariates. Recently, G...
Fish species composition and organization of the Bandama River at scientific nature reserve Lamto have been investigated for first time. The study was conducted from March 2021 to February 2022. Gillnets traps were used collect fish. A total 41 belonging 35 genera, 13 families, 5 orders captured. best-represented Siluriformes with families 11 Perciformes 3 14 Cichlidae, Mormyridae, Alestidae re...
We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 AβPP, and 13 AβPP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this scr...
BACKGROUND Children with trisomy 13 and trisomy 18 (T13-18) have low survival rates and survivors have significant disabilities. For these reasons, interventions are generally not recommended by providers. After a diagnosis, parents may turn to support groups for additional information. METHODS We surveyed parents of children with T13-18 who belong to support groups to describe their experien...
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the axonal autosomal recessive subgroup (ARCMT2) have been reported in 1q21 (CMT2B1, LMNA), 8q21 (CMT4A and CMT2K, GDAP1) and 19q13 (CMT2B2). We report here a clinical, electrophysiological, pathological and genetic study in 13 Moroccan families with ARCMT2 phenotypes. C...
PURPOSE To evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME. METHOD Thirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members. RESULTS All probands had myoclonic a...
PURPOSE Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increase the power of detection. Ordered subset analysis (OSA) is a recently described method that utilizes the variability of phenotypic traits to ...
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