Search Results - "Medical genetics"

Genomic screen for loci associated with tobacco usage in Mission Indians by Wilhelmsen Kirk C, Ehlers Cindy L

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Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing by Shan Li, Jianfei Zhang, Yixuan Cao, Yi You, Xiuli Zhao

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Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006-2016 by Lauren Adolph, Ashley Warias, Jocelyn Stairs, Kelly Collins-McNeil, Lynette Penney, Katharina Kieser

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Association between variations in the <it>TLR4 </it>gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol by Meisinger Christine, Thorand Barbara, Klopp Norman, Khuseyinova Natalie, Müller Martina, Baumert Jens, Kolz Melanie, Herder Christian, Koenig Wolfgang, Illig Thomas

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Effects of genetic variations in the Adiponectin pathway genes on the risk of colorectal cancer in the Chinese population by He Bangshun, Pan Yuqin, Zhang Ying, Bao Qian, Chen Liping, Nie Zhenlin, Gu Ling, Xu Yeqiong, Wang Shukui

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Cell cycle and centromere FISH studies in premature centromere division by Corona-Rivera Jorge R, Salamanca-Gomez Fabio, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Palomino-Cueva Cesar, Garcia-Cobian Teresa A, Corona-Rivera Enrique

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Interaction between obesity and the Hypoxia Inducible Factor 3 Alpha Subunit rs3826795 polymorphism in relation with plasma alanine aminotransferase by Shuo Wang, Jieyun Song, Yide Yang, Yining Zhang, Nitesh V. Chawla, Jun Ma, Haijun Wang

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Association between IL28B Polymorphisms and Outcomes of Hepatitis B Virus Infection: A meta-analysis by Jingyu Zhao, Xinyue Zhang, Liwei Fang, Hong Pan, Jun Shi

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A novel <it>HSF4 </it>gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan by Cheema Abdul, Kakar Naseebullah, Goebel Ingrid, Sajjad Naheed, Kubisch Christian, Ahmad Jamil

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Genotype-phenotype correlation in 22q11.2 deletion syndrome by Michaelovsky Elena, Frisch Amos, Carmel Miri, Patya Miriam, Zarchi Omer, Green Tamar, Basel-Vanagaite Lina, Weizman Abraham, Gothelf Doron

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Polymorphisms in the <it>Mn-SOD</it> and <it>EC-SOD</it> Genes and Their Relationship to Diabetic Neuropathy in Type 1 Diabetes Mellitus by Zotova Elena V, Savost'anov Kirill V, Chistyakov Dimitry A, Nosikov Valery V

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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report by Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan, M. G. Netea, M. Jaeger, A. Dumitrescu, S. Refetoff, T. Huynh, R. E. Weiss

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Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic by Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar, Jana Reiterova

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Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families by Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul

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Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome by Chunxiao Han, Changshui Chen, Yuxin Zhang, Haibo Li

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Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups by Wang Jun, Li Heng, Mailund Thomas, Schierup Mikkel H, Tjønneland Anne, Vogel Ulla, Bolund Lars, Nexø Bjørn A

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Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI by Ignatovica Vita, Pirags Valdis, Kapa Ivo, Kalnina Ineta, Schiöth Helgi B, Klovins Janis

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Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study by Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan, Junxia Yan

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Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report by Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li

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Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci by Houlston Richard S, Tomlinson Ian PM, Järvinen Heikki, Mecklin Jukka-Pekka, Li Yilong, Tuupanen Sari, Niittymäki Iina, Karhu Auli, Aaltonen Lauri A

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