Search Results - "phenotyping"

Prevalence, patterns and predictors of metabolic abnormalities in Nigerian hypertensives with hypertriglyceridemic waist phenotype: A cross sectional study. by Casmir E Amadi, Amam C Mbakwem, Dolapo C Duro, Ifeoma C Udenze, Clement M Akinsola, Jayne N Ajuluchukwu, David A Wale Oke

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Analysis of common <it>PTPN1 </it>gene variants in type 2 diabetes, obesity and associated phenotypes in the French population by Marre Michel, Balkau Beverley, Charpentier Guillaume, Bibi Amina, Dechaume Aurélie, Lecoeur Cécile, Cheyssac Claire, Froguel Philippe, Gibson Fernando, Vaxillaire Martine

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Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype by Conde M, Neves C, Brito MJ, Arostégui JI, Santos J

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Prognosis of bronchial asthma in children with different pulmonary function phenotypes: A real-world retrospective observational study by Lu Liu, Hui Ma, Shuhua Yuan, Jing Zhang, Jinhong Wu, Muheremu Dilimulati, Yahua Wang, Shiyu Shen, Lei Zhang, Jilei Lin, Yong Yin

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Cardiomyopathy with Restrictive-Hypertrophic Phenotype and Initial Morphological Diagnosis "Amyloidosis" as a Manifestation of Danon Disease in a Woman by O. V. Blagova, E. A. Kogan, V. P. Sedov, Yu. A. Lutokhina, A. V. Nedostup, A. V. Ott, L. M. Dashinemaeva, E. V. Zaklyazminskaya

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Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information by Wang S Alex, Smith Kirstin, Garner John R, De Supriyo, Zhang Yonqing, Becker Kevin G

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Reelin Alterations, Behavioral Phenotypes, and Brain Anomalies in Schizophrenia: A Systematic Review of Insights From Rodent Models by Ana C. Sánchez-Hidalgo, Ana C. Sánchez-Hidalgo, Celia Martín-Cuevas, Celia Martín-Cuevas, Benedicto Crespo-Facorro, Benedicto Crespo-Facorro, Benedicto Crespo-Facorro, Nathalia Garrido-Torres, Nathalia Garrido-Torres, Nathalia Garrido-Torres

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Phenotypic diversity and history of the Congo Basin populations: Equatorial Guinea, Bantu Speaking Central Africans and African Pygmies by Daniel Turbón, Esther Rebato, Miquel Salicrú

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Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China by Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng, Guoli Wang

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A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene by Pilar Ribes Hernández, Adoración Granados Molina, Alicia García Pérez, Saoud Tahsin Swafiri, Esther Pérez Carbajo

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Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype by S. L. N. Clarke, L. Robertson, G. I. Rice, L. Seabra, T. N. Hilliard, Y. J. Crow, A. V. Ramanan

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Four Non-functional FUT1 Alleles Were Identified in Seven Chinese Individuals with Para-Bombay Phenotypes by Wei LIANG, Feng CAI, Liang YANG, Zhe ZHANG, Zhicheng WANG

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The calcineurin inhibitor Sarah (Nebula) exacerbates Aβ42 phenotypes in a Drosophila model of Alzheimer's disease by Soojin Lee, Se Min Bang, Yoon Ki Hong, Jang Ho Lee, Haemin Jeong, Seung Hwan Park, Quan Feng Liu, Im-Soon Lee, Kyoung Sang Cho

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Ablation of USP21 in skeletal muscle promotes oxidative fibre phenotype, inhibiting obesity and type 2 diabetes by Ayoung Kim, Ja Hyun Koo, Xing Jin, Wondong Kim, Shi‐Young Park, Sunghyouk Park, Eugene P. Rhee, Cheol Soo Choi, Sang Geon Kim

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Buspirone Counteracts MK-801-Induced Schizophrenia-Like Phenotypes through Dopamine D3 Receptor Blockade by Sebastiano Alfio Torrisi, Salvatore Salomone, Federica Geraci, Filippo Caraci, Filippo Caraci, Claudio Bucolo, Filippo Drago, Gian Marco Leggio

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Mitochondrial Diabetes May Not Be the Only Phenotypic Presentation of the m.5826A>G mtDNA Variant [Letter] by Finsterer J

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PTBP1 Targets ILK to Regulate the Hypoxia-Induced Phenotypic Transformation of Pulmonary Artery Smooth Muscle Cells by Yan G, Sun R, Chen Z, Pan X, Sheng Z, Tang C

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Establishing Genotype-to-Phenotype Relationships in Bacteria Causing Hospital-Acquired Pneumonia: A Prelude to the Application of Clinical Metagenomics by Etienne Ruppé, Abdessalam Cherkaoui, Vladimir Lazarevic, Stéphane Emonet, Jacques Schrenzel

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CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS by M.V. Tural'chuk, G.A. Novik, A.Ya. Gudkova

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Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members by Corinna E. Zimmermann, Muhidien Soufi, Volker Ruppert, Juergen R. Schaefer, Helmut von Domarus

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