Search Results - "Medical genetics"

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  1. 1561
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    A common polymorphism in <it>NR1H2 </it>(LXRbeta) is associated with preeclampsia by Brouillet Jean-Paul, Balducchi Jean-Pierre, Baron Silvère, Evrard Alexandre, Polge Anne, Mercier Eric, Mouzat Kevin, Lumbroso Serge, Gris Jean-Christophe

    Published 2011
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  2. 1562
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    Angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to psoriasis: a systematic review and meta-analysis by Mazaher Ramezani, Elisa Zavattaro, Masoud Sadeghi

    Published 2020
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  3. 1563
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    Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population by Yan Zehui, Tan Wenting, Dan Yunjie, Zhao Wenli, Deng Chunqing, Wang Yuming, Deng Guohong

    Published 2012
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  4. 1564
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    Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation by Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins, Chong Ae Kim

    Published 2020
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  5. 1565
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    Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome by Semina Elena V, Murray Jeffrey C, Alward Wallace LM, Maciolek Nicole L, McNally Mark T

    Published 2006
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  6. 1566
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    The association between apolipoprotein E and gallstone disease: an updated meta-analysis by Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao, Jingyun Yang

    Published 2019
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  7. 1567
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    Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population by Gong Yaoqin, Wang Aihua, Zhao Hailing, Fang QiuRong, Liu Qiji

    Published 2011
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  8. 1568
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    Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients by Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova

    Published 2019
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  9. 1569
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    TNF-α − 308 G/A and IFN-γ + 874 A/T gene polymorphisms in Saudi patients with cutaneous leishmaniasis by Ahmed A. Ahmed, Zafar Rasheed, Tarek Salem, Mohammed S. Al-Dhubaibi, Ahmad A. Al Robaee, Abdullateef A. Alzolibani

    Published 2020
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  10. 1570
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    Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia by Toivonen Lauri, Viitasalo Matti, Lahtinen Annukka M, Laitinen-Forsblom Päivi, Marjamaa Annukka, Kontula Kimmo, Swan Heikki

    Published 2009
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  11. 1571
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    First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report by Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo

    Published 2018
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  12. 1572
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    Association of <it>C1QB </it>gene polymorphism with schizophrenia in Armenian population by Stahelova Anna, Gevorgyan Anaida, Boyajyan Anna, Arakelyan Arsen, Khoyetsyan Aren, Zakharyan Roksana, Mrazek Frantisek, Petrek Martin

    Published 2011
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  13. 1573
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    Impact of <it>HFE </it>genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data by Ka Chandran, Chanu Brigitte, Mercier Anne-Yvonne, Mérour Marie-Christine, Le Gac Gérald, Scotet Virginie, Mura Catherine, Nousbaum Jean-Baptiste, Férec Claude

    Published 2005
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  14. 1574
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    Estrogen and progesterone-related gene variants and colorectal cancer risk in women by Gunter Marc J, Cochrane Barbara B, Kraft Peter, Manson JoAnn E, Lin Jennifer H, Chlebowski Rowan T, Zhang Shumin M

    Published 2011
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  15. 1575
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    Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature by Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg

    Published 2020
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  16. 1576
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    Three cases of multicentric carpotarsal osteolysis syndrome: a case series by Peong Gang Park, Kee Hyuck Kim, Hye Sun Hyun, Chan Hee Lee, Jin-Su Park, Jeong Hae Kie, Young Hun Choi, Kyung Chul Moon, Hae Il Cheong

    Published 2018
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  17. 1577
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    Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms <it>SOX2</it>, <it>OTX2</it> and <it>FOXE3</it> mutations by Lopez Jimenez Nelson, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, Tonkin Leath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M

    Published 2011
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  18. 1578
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    Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians by Utama Andi, Raharjo Sunu B, Wang Tingliang, Tjong Wen, Suriapranata Ivet M, Yuniadi Yoga, Tai Susan SW

    Published 2011
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  19. 1579
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    Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria by Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong

    Published 2018
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  20. 1580
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    Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women by Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri, Angélica Alves Lima

    Published 2019
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