Search Results - "Medical genetics"

A founder mutation in the <it>PEX6</it> gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population by Levesque Sebastien, Morin Charles, Guay Simon-Pierre, Villeneuve Josee, Marquis Pascale, Yik Wing, Jiralerspong Sarn, Bouchard Luigi, Steinberg Steven, Hacia Joseph G, Dewar Ken, Braverman Nancy E

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A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report by Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao, Guohong Deng

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Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes by Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations by Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan

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Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study by Srijana Adhikari, Neelam Thakur, Ujjowala Shrestha, Mohan K Shrestha, Murarai Manshrestha, Bijay Thapa, Manish Poudel, Ajaya Kunwar

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Lack of association of <it>TIM3 </it>polymorphisms and allergic phenotypes by Laprise Catherine, Becker Allan B, Chan-Yeung Moira, Stefanowicz Dorota, Akhabir Loubna, Daley Denise, Zhang Jian, Paré Peter D, Sandford Andrew J

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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly by Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

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Meta-analysis of association between TCF7L2 polymorphism rs7903146 and type 2 diabetes mellitus by Weiyue Ding, Li Xu, Lejun Zhang, Zhijie Han, Qinghua Jiang, Zhe Wang, Shuilin Jin

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Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH by Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan, Changying Chen

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Exploring digenic inheritance in arrhythmogenic cardiomyopathy by Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini

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Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder by Hooper Sean D, Johansson Anna CV, Tellgren-Roth Christian, Stattin Eva-Lena, Dahl Niklas, Cavelier Lucia, Feuk Lars

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Frequency of Chromosomal Abnormalities in Products of Conception by Thaís Mesquita Alves Teles, Carolina Maria Marques de Paula, Mariana Gontijo Ramos, Helena B. B. L. Martins da Costa, Cyntia Roberta Almeida Andrade, Sarah Abreu Coxir, Maria Lectícia Firpe Penna

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A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up by Jaehui Ryu, Jung Min Ko, Choong-Ho Shin

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Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma by Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif, Poopak Farnia

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Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira by Roberto Benedito de Paiva e Silva, Antonio Sérgio Ramalho

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Ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion successfully treated with surgical resection and CAPOX chemotherapy: a case report by Narushi Iwata, Ayumi Shikama, Wataru Takao, Yoshihiko Hosokawa, Hiroya Itagaki, Nobutaka Tasaka, Azusa Akiyama, Hiroyuki Ochi, Takeo Minaguchi, Miwa Arita, Emiko Noguchi, Toshikazu Moriwaki, Toyomi Satoh

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Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis by Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

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Analysis of the <it>XRCC1 </it>gene as a modifier of the cerebral response in ischemic stroke by Juo Suh-Hang H, Lin Hsiu-Fen, Dutra Ana VC, Mohrenweiser Harvey, Sen Souvik, Grewal Raji P

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<it>SOD2 </it>polymorphisms: unmasking the effect of polymorphism on splicing by Shao Jing, Chen Lishan, Marrs Brian, Lee Lin, Huang Hai, Manton Kenneth G, Martin George M, Oshima Junko

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In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study by Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola, Chandrika Wijeyaratne

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