Clinical phenotype
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
... to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected ...child phenotype. Conclusions: Results confirm a core ...
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Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
... consistent clinical phenotype and identical genetic mutations, the OSGEP mutation in ...concordant clinical phenotype of GAMOS comprising facial and extremity dysmorphism, early-onset SRNS, ...
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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... the clinical spec- trum of ALS phenotypes, though in comparison with other genetic subtypes, C9ORF72 carriers have a higher inci- dence of bulbar onset ...the clinical variation seen with the G 4 C 2 repeat ...
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Cardiac and Clinical Phenotype in Barth Syndrome
... and clinical charac- teristics that are associated with the condition, providing a more objective description of this ...the clinical phenotype typically involves cardiomyopa- thy, cyclic ...
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Concepts of pathogenesis in psoriatic arthritis: genotype determines clinical phenotype
... unitary phenotype; is PsA a genetically heterogeneous or homogeneous entity; and do the genetic factors implicated in determining susceptibility to PsA predict clinical phenotype? We first discuss ...
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The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency
... the clinical phe- ...determining clinical features [16-19], but no studies have examined the role of candidate genes in the full range of COPD ...influence clinical phenotype in ...
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Discrepancy Between Neuroimaging Findings and Clinical Phenotype in Alexander Disease
... SUMMARY: We present a case of infantile-onset Alexander disease (AD) with a novel glial fibrillary acidic protein mutation but without clinical evidence of neurologic deterioration. Brain MRI studies showed ...
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Clinical Phenotype of Scabies by Age
... , 2 years), 107 children (age between 2 and 15 years), and 113 adults (age . 15 years). Mean diagnostic delay was 62 days, with no signi fi cant difference be- tween age groups. Relapse was ob- served in all age groups ...
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Association of clinical phenotype and genetic burden in coeliac disease
... While our sample confirms that CD can be diagnosed over a wide age range, a significant increase in the median age at diagnosis happened between 1986 and 2005 coinciding with improved diagnostic techniques (Reilly et ...
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
... whose clinical speci- mens were submitted to our laboratory from the United States and ...common clinical presenta- tions of the individuals referred for testing were mental retardation, developmental ...
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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
... National Institute of Child Health & Human Development; and holds stock/stock options/board of directors compensation in Asuragen, Inc. Lili Zhou has received funding from Roche for diagnostic FMR1 test- ing during ...
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REVIEW ARTICLE Charcot-Marie-Tooth type 1A disease from patient to laboratory
... Two teams described the first preclinical studies to illustrate proof of principle in support of AAV1.NT-3 gene therapy for constant NT-3 delivery by secretion by muscle cells for the familiar type of the CMT ...
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Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
... The mechanisms by which deficiency of Rbsn-5 at the cellular level lead to the complex features of this patient are suggested by cases in which specific defects in the endosomal/lysosomal pathway produce complex ...
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TWO SIBLINGS WITH NEURODEVELOPMENT DELAY AND AUTISTIC BEHAVIOR WITH THE SAME GENETIC MUTATION
... uncharacterized clinical phenotype is a rearrangement in chromosome ...for clinical evaluation of subjects with developmental delay, dysmorphic features and/or multiple congenital anomalies from June ...
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Familial inheritance of the 3q29 microdeletion syndrome: case report and review
... As indicated above, the recurrent 3q29 microdeletion syndrome has a heterogeneous clinical phenotype, and is enriched among young adults with psychiatric disorders and children with developmental delay [3, ...
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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
... A number of other web-based instruments provide information concerning the in-silico prediction of the functional impact of each known variant and its frequency in different populations (e.i. https://varsome.com/, ...
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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
... Patients. One hundred seven patients with HSAN were selected from our inherited neuropathy database, including patients seen in the National Hospital for Neurology and Neurosurgery peripheral neuropathy clinics as well ...
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Viral Characteristics Associated with the Clinical Nonprogressor Phenotype Are Inherited by Viruses from a Cluster of HIV 1 Elite Controllers
... ABSTRACT A small group of HIV-1-infected individuals, called long-term nonpro- gressors (LTNPs), and in particular a subgroup of LTNPs, elite controllers (LTNP-ECs), display permanent control of viral replication and ...
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Annotating Clinical Events in Text Snippets for Phenotype Detection
... Bejan, C. A., Vanderwende, L., Xia, F., and Yetisgen- Yildiz, M. (2013). Assertion modeling and its role in clinical phenotype identification. Journal of American Medical Informatics Association (JAMIA), ...
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Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
... milder clinical presentation often show less pronounced abnormalities of peroxisomal metabolites in body fluids and fibroblasts [5, ...mild clinical phenotype and highlights the importance of ...
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