Results 101 to 110 of about 162,657 (334)
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients
Journal of Biomedicine and Translational Research, 2018 Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders.
Aisha Balkhar Ali +3 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.The NF‐hHRAS mouse model was generated through Chr15 E1 locus‐targeted integration of a 21 kb multicopy HRAS gene cluster. The NF‐hHRAS model demostrated tissue‐specific expression of human HRAS across multiple organs and low spontaneous tumorigenesis.
Susu Liu +12 more
wiley +1 more source
Contribution to the knowledge of the family Otoplanidae Hallez, 1892 (Rhabditophora, Proseriata) in the Mediterranean [PDF]
, 2009 A growing awareness is rising that present perception of marine biodiversity is inadequate, and based upon unrepresentative data. The inadequacy of knowledge on taxonomy and distribution of marine organisms is particularly acute for interstitial ...
Delogu, Valentina
core
9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]
, 2019 The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto +6 more
core +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Animal Research and One Health, EarlyView.Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao +11 more
wiley +1 more source
Hydromorphus, H. concolor, H. dunni [PDF]
, 1990 Number of Pages: 2Integrative BiologyGeological ...
Villa, Jaime D.
core +1 more source