Search Results - "Medical genetics"

MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample by Zhao Jinying, Forsberg Christopher W, Goldberg Jack, Smith Nicholas L, Vaccarino Viola

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Identification of novel biomarkers in ischemic stroke: a genome-wide integrated analysis by Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng, Li Yi

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Vitamin D receptor initiation codon polymorphism influences genetic susceptibility to type 1 diabetes mellitus in the Japanese population by Maruyama Taro, Yamada Satoru, Yanagawa Tatsuo, Taniyama Matsuo, Ban Yoshiyuki, Kasuga Akira, Ban Yoshio

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Lack of associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol dependence: review and meta-analysis of retrospective controlled studies by Xiangyi Kong, Hao Deng, Shun Gong, Theodore Alston, Yanguo Kong, Jingping Wang

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The role of the fat mass and obesity associated gene (<it>FTO</it>) in breast cancer risk by Agarwal Surbhi, Tofilon Sarah, Xu Yanfei, Zhang Kui, Siziopikou Kalliopi, Sadim Maureen, Yi Nengjun, Kaklamani Virginia, Pasche Boris, Mantzoros Christos

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Genotype-phenotype correlation of HbH disease in northern Iraq by Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus, Mohamad D. Ali

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Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred by Max Drabkin, Ohad S. Birk, Ruth Birk

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A novel c.-22T>C mutation in <it>GALK1 </it>promoter is associated with elevated galactokinase phenotype by Kim Jin Q, Park Kyoung, Kim Yoon-Kyoung, Park Hyung-Doo, Song Young-Han, Song Junghan

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Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency by Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du

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Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness by Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati, Masoumeh Falah

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A systematic review of genetic mutations in pulmonary arterial hypertension by Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez, Victor Trevino

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Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone by Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P. Brown, Laëtitia Michou

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Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis by Ying-ying Luo, Hong-peng Zhang, Ai-long Huang, Jie-li Hu

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Large genomic rearrangements in the <it>CFTR </it>gene contribute to CBAVD by Guittard Caroline, Girardet Anne, Taulan Magali, Altieri Jean-Pierre, Templin Carine, Beroud Christophe, des Georges Marie, Claustres Mireille

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Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy by Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke, Michael Forster

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report by Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report by Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez

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Association of MUC1 5640G>A and PSCA 5057C>T polymorphisms with the risk of gastric cancer in Northern Iran by Reza Alikhani, Ali Taravati, Mohammad Bagher Hashemi-Soteh

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Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia by Alkhairallah Thamer S, Khalil Dania S, Al Sharif Latifa J, Shinwari Jameela M, Bohlega Saeed A, Al Tassan Nada A

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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates by Rahmani Aiman, Ur Rehman Moghis, Chedid Faris, Bakir Mahmood, Akawi Nadia A, Ali Bassam R, Al-Gazali Lihadh

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