phenotypic features
Young onset sporadic Creutzfeldt–Jakob disease with atypical phenotypic features: a case report
... clinical features and perhaps ...have phenotypic features of prob- able sporadic CJD, had visual hallucination and rapidly progressive dementia as the initial manifestation ...
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Methods for diagnosing perceived age on the basis of an ensemble of phenotypic features
... The algorithm is based on artificial intelligence proce- dures, specifically ANN. The system developed here employs supervised mathematical learning and error retropropagation techniques to learn the relations between ...
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Phenotypic features of chronic migraine
... the phenotypic features of CM, we com- pared headache frequency, duration of attack, intensity, and duration of illness according to the presence of accompanying ...
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Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene
... Isolated growth hormone deficiency (IGHD) may be of genetic origin. One of the few genes involved in that condition en- codes the growth hormone releasing hormone receptor (GHRHR) that, through its ligand (GHRH), plays a ...
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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
... clinical features of patients in our co- hort were the atypical fractures and short stature in addition to osteosclerosis, which was present in all pa- tients (Figure ...dysmorphic features and family ...
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Genetic and Phenotypic Features of Streptococcus pyogenes Strains Isolated in Brazil That Harbor Newemm Sequences
... Phenotypic characterization of the isolates. Serologic T types and opacity factor (OF) reactions were determined as previously described (7, 8). Suscepti- bility to antimicrobial agents was tested by a broth ...
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Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
... Features of KS patients without KAL1 or FGFR1 mutations All 18 probands without an identified molecular genetic cause underlying KS were men. A subset of 7 probands had a history of micropenis, and 4 of them also ...
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Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids
... and phenotypic properties is studied in the interspecies hybrids created by the cross-breeding of ...the phenotypic properties of the hybrid progeny ...
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Beneficial effect of resveratrol on phenotypic features and activity of osteoarthritic osteoblasts
... of phenotypic markers and reduced mineralization of OA Ob are linked with stimulation of the Wnt antagonist dickkopft- 2 (DKK2) [9] and sclerostin (SOST) [10], and inhibition of the Wnt agonist, R-spondin 2 ...
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Novel copy number variants in children with autism and additional developmental anomalies
... additional phenotypic features or diagnoses suggestive of a developmental disturbance (positive filter) but who had normal cytogenetic testing (negative filter) would be more likely to harbor novel ...
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Production of tetraploid plants of Trollius chinensis Bunge induced by colchicine
... Trollius chinensis Bunge is one of the important ornamental and medicinal plants cultivated in China. In this study, the tetraploid plants of Trollius chinensis were successfully induced by colchicine and their ...
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Reconstitution of cultured intestinal epithelial monolayers with a mucosal derived T lymphocyte cell line Modulation of epithelial phenotype dependent on lymphocyte basolateral membrane apposition
... with phenotypic features similar to (but not specific for) intraepithelial lymphocytes, we describe a co-culture model to study the functional sequellae of MDL-T84 cell interactions in ...
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A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
... morphic features and better survival ...defined phenotypic spectrum with non- specific cranio-facial dysmorphic ...milder phenotypic expression with a longer lifespan in this group of patients with ...
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Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
... the phenotypic features of human MC4R deficiency, we have studied affected and unaf- fected subjects from three families in which there is clear cosegregation of MC4R mutations with early-onset ...
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Rare Shewanella spp associated with pulmonary and bloodstream infections of cancer patients, China: a case report
... The bronchoalveolar lavage fluid (BALF) was collected when he received painless bronchoscopic examination and the cell number was over 10 4 cfu/ml. Sample was streak-in- oculated on blood agar medium for bacterial ...
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Novel digital signatures of tissue phenotypes for predicting distant metastasis in colorectal cancer
... tissue phenotypic features, derived from both cell-cell connection frequencies and tissue appearance, with significant association with metastasis incidence and distant metastasis-free survival (DMFS) in ...
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Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome
... the phenotypic features of Hashimoto ’ s thyroiditis (HT) and Graves ’ disease (GD) in Turner syndrome (TS) girls, in terms of epidemiology, clinical and biochemical presentation, long-term course and ...
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Neisseria bacilliformis sp nov Isolated from Human Infections
... In addition to the cases from our study, a case of endocar- ditis caused by another probable N. bacilliformis strain has been reported recently in France (15). The bacillus, identified by 16S rRNA gene sequencing ...
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DIAGNOSTIC AND PREDICTIVE VALUE OF SURVIVIN, P63 ANDCD15 IN NON HODGKIN'S LYMPHOMAS
... and phenotypic features between anaplastic large cell lymphoma and classical Hodgkin's lymphoma are similar, making this differential diagnosis challenging, P63 protein expression is frequently expressed in ...
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The role played by cell substrate interactions in the pathogenesis of osteoclast mediated peri implant osteolysis
... Prosthetic wear debris-induced peri-implant osteolysis is a major cause of aseptic loosening after total joint replacement. In this condition, wear particles released from the implant components induce a granulomatous ...
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