Search Results - "Medical genetics"

Novel <it>de novo BRCA2 </it>mutation in a patient with a family history of breast cancer by Eiberg Hans, Filtenborg-Barnkob Bettina, Albrechtsen Anders, Jønson Lars, Bisgaard Marie, Hansen Thomas, Ejlertsen Bent, Nielsen Finn C

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Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case r... by Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski, Mirosław Wielgoś

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report by Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

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Innate immunity in ocular <it>Chlamydia trachomatis </it>infection: contribution of IL8 and CSF2 gene variants to risk of trachomatous scarring in Gambians by Joof Hassan, Rockett Kirk, Holland Martin, Luoni Gaia, Hull Jeremy, Natividad Angels, Burton Matthew, Mabey David, Kwiatkowski Dominic, Bailey Robin

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Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer by Lascorz Jesus, Bevier Melanie, Schönfels Witigo V, Kalthoff Holger, Aselmann Heiko, Beckmann Jan, Egberts Jan, Buch Stephan, Becker Thomas, Schreiber Stefan, Hampe Jochen, Hemminki Kari, Försti Asta, Schafmayer Clemens

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Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome by O'Brien Susan, Yeh Chen-Hsiung, Zhang Zhong, Donahue Amber C, Chen Clifford, Wang Xiuqiang, Zhang Xi, Zhang Ke, Kantarjian Hagop, Ma Wanlong, Garcia-Manero Guillermo, Caporaso Neil, Landgren Ola, Albitar Maher

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Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report by Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas

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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients by Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar

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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P) by Lahey Cora, Brown Justin T, Laosinchai-Wolf Walairat, Hadd Andrew G

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T ^nulland M ^nullgenotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking by Mohamed Gamal H, Al-Boudari Olayan M, Abu-Amero Khaled K, Dzimiri Nduna

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Sulfation of fulvestrant by human liver cytosols and recombinant SULT1A1 and SULT1E1 by Edavana VK, Yu X, Dhakal IB, Williams S, Ning B, Cook IT, Caldwell D, Falany CN, Kadlubar S

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A novel mutation in SORD gene associated with distal hereditary motor neuropathies by Xiaoqin Yuan, Shanshan Zhang, Huifang Shang, Yufeng Tang

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The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese by Jiyun Yang, Guisen Li, Li Zhu, Yi Shi, Jicheng Lv, Fang Lu, Xiaoqi Liu, Shi Ma, Cheng Jing, Ying Lin, Haiyan Wang, Li Wang, Hong Zhang, Zhenglin Yang

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Gene expression profiles in Finnish twins with multiple sclerosis by Kaprio Jaakko, Lehtimäki Terho, Airla Nina, Levula Mari, Paalavuo Raija, Kuusisto Hanna, Särkijärvi Silja, Koskenvuo Markku, Elovaara Irina

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A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study by Rimm Eric B, van den Berg Maarten P, Moore Jason H, Asselbergs Folkert W, de Boer Rudolf A, Dullaart Robin P, Navis Gerjan, van Gilst Wiek H

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Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis by Hamideh Aghaei, Shayan Mostafaei, Saeed Aslani, Ahmadreza Jamshidi, Mahdi Mahmoudi

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The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis by Xueyan Li, Yi Su, Di Liu, Jingyun Yang

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<it>MC1R</it> variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair by Pellegrini Cristina, Fargnoli Maria, Suppa Mariano, Peris Ketty

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A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family by Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang

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Further evidence that mutations in <it>INS </it>can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) by Pisinger Charlotta, Pociot Flemming, Bergholdt Regine, Damm Peter, Lauenborg Jeannet, Obermannova Barbora, Cinek Ondrej, Andersson Ehm A, Pruhova Stepanka, Boesgaard Trine W, Barbetti Fabrizio, Lebl Jan, Pedersen Oluf, Hansen Torben

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