Arama Sonuçları - "homozygous"

The val¹⁵⁸met polymorphism of human catechol-O-methyltransferase (<it>COMT</it>) affects anterior cingulate cortex activation in response to painful laser stimulation Yazar: Musso Francesco, Warbrick Tracy, Steffens Michael, Toliat Mohammad R, Thiele Holger, Brinkmeyer Juergen, Mobascher Arian, Wittsack Hans-Joerg, Saleh Andreas, Schnitzler Alfons, Winterer Georg

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Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management Yazar: Giuseppe Migliara, Valentina Baccolini, Annalisa Rosso, Elvira D'Andrea, Azzurra Massimi, Paolo Villari, Corrado De Vito

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Alu-repeat polymorphism in the tissue plasminogen activator (t-PA) gene, seminal t-PA concentration, and male fertility impairment: A case-control study Yazar: Lubna Hamid Tahtamouni, Mahmoud Nael Hamdan, Zainab Ali Al-Mazaydeh, Randa Mahmoud Bawadi, Majdoleen Sobhi Rammaha, Ahmad Mohammad Zghoul, Mamoun Ahmad Ahram, Salem Refat Yasin

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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models Yazar: Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A. Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma'ayan Semo, Anthony A. Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham

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Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria Yazar: Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

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Interleukin-6 gene polymorphism in Saudi population with recurrent aphthous stomatitis Yazar: Samah Jameel Saeed Shabana, Muhammad Hamid Zaini Mutawakkil, Hassan Mamdouh Aly El-Ashmaoui, Fathya Mohammed Abdel-Qawi Zahran

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A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia Yazar: Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler, Nesrin Özören

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Foxa2 and Pdx1 cooperatively regulate postnatal maturation of pancreatic β-cells Yazar: Aimée Bastidas-Ponce, Sara S. Roscioni, Ingo Burtscher, Erik Bader, Michael Sterr, Mostafa Bakhti, Heiko Lickert

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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review Yazar: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu

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Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children Yazar: Shokouh Azam SARRAFZADEH, Maryam MAHLOOJIRAD, Maryam NOURIZA­DEH, Jean-Laurent CASANOVA, Zahra POURPAK, Jacinta BUSTAMANTE, Mostafa MOIN

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Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population Yazar: Chalirmporn Atasilp, Janjira Kanjanapipak, Jaratdao Vichayaprasertkul, Pimonpan Jinda, Rawiporn Tiyasirichokchai, Pornpen Srisawasdi, Chatchay Prempunpong, Monpat Chamnanphon, Apichaya Puangpetch, Natchaya Vanwong, Suwit Klongthalay, Thawinee Jantararoungtong, Chonlaphat Sukasem

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Does human serotonin-1A receptor polymorphism (rs6295) code for pain and associated symptoms in fibromyalgia syndrome? Yazar: S. Tanwar, B. Mattoo, U. Kumar, R. Dada, R. Bhatia

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New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study Yazar: Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule, Signe Setlere, Mikus Diriks, Madara Auzenbaha

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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I Yazar: André Leier, Marc Moore, Hui Liu, Michael Daniel, Alexis M. Hyde, Ludwine Messiaen, Bruce R. Korf, Jamuna Selvakumaran, Lukasz Ciszewski, Laura Lambert, Jeremy Foote, Margaret R. Wallace, Robert A. Kesterson, George Dickson, Linda Popplewell, Deeann Wallis

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The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q Yazar: Johan Lindqvist, Hiroyuki Iwamoto, Gonzalo Blanco, Julien Ochala

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Cre-LoxP and tamoxifen-induced deletion of ovarian quiescin sulfhydryl oxidase 2 showed disruption of ovulatory activity in mice Yazar: Shih-Yun Chen, Tse-En Wang, Wei-Yun Lee, Ya-Yi Yang, Hong-Chun Lai, Fuko Matsuda, Haruhiko Kosek, You-Tzung Chen, Sheng-Hsiang Li, Pei-Shiue Tsai

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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation Yazar: Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani

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Variants of WDR36 in Cameroonian glaucoma patients Yazar: Fanny Mbacham, Yannick Bilong, Jean Paul Chedjou, Arlette Nomo, Chantal Nanfack Ngoune, Hermann Dongmo, CalvinoTAH, Jean-Claude Katte, Wilfred Mbacham, Eugene SobngwI, Assumpta Lucienne Bella

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Análise da mutação G20210A no gene da protrombina (fator II) em pacientes com suspeita de trombofilia no sul do Brasil Analysis of prothrombin G20210A mutation (factor II) in pa... Yazar: Marcos Edgar Herkenhoff, Rodrigo Gaulke, Jaqueline Godinho de Souza, Nadir Schmidt Thomé, Ana Kelly Pitlovanciv, Vanessa Rosália Remualdo

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Phenotypes of Dravet Syndrome Yazar: Rebecca Garcia-Sosa, Linda C. Laux

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