Search Results - "Medical genetics"

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome by Yan-gong Wang, Shu-ping Sun, Yi-ling Qiu, Qing-he Xing, Wei Lu

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Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients by Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang, Hongbao Cao

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Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutation by Mohan Liu, Rui Chen, Lin Wang, Hua Xu, Zongbin Li, Yang Li, Lei Gao, Yuqi Liu, Yi Wen, Minxin Guan, Shiwen Wang

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Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases by Kida Kozui, Ishii Takeo, Kumasaka Toshio, Tanaka Noriko, Arai Tomio, Ikeda Shinobu, Fujimoto Koichi, Muramatsu Masaaki, Sawabe Motoji

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Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation by Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos

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Decoding of novel missense TSC2 gene variants using in-silico methods by Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

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The value of some Corsican sub-populations for genetic association studies by Vona Giuseppe, Varesi Laurent, Sole Gabriella, Latini Veronica, Ristaldi Maria

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Association of preeclampsia with infant APOL1 genotype in African Americans by Anna K. Miller, Timur Azhibekov, John F. O'Toole, John R. Sedor, Scott M. Williams, Raymond W. Redline, Leslie A. Bruggeman

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A role for the collagen I/III and MMP-1/-13 genes in primary inguinal hernia? by Klinge Uwe, Rosch Raphael, Si Zhongyi, Junge Karsten, Klosterhalfen Bernd, Schumpelick Volker

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Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis by Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature by Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

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Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature by Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake

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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests by Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu

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Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology by Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein, Margaret M. DeAngelis

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<it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families by Lobato Ana, Sand Jette C, Braathen Geir J, Høyer Helle, Russell Michael B

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Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study by Fontán Gumersindo, Ferreira Antonio, López-Mejías Raquel, Urcelay Elena, Fernández-Arquero Miguel, Ortiz Javier, de la Concha Emilio G, Martínez Alfonso

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Modeling gene-environment interactions in longitudinal family studies: a comparison of methods and their application to the association between the IGF pathway and childhood obesit... by Cheng Wang, Marie-Hélè, Jean-François Lefebvre, Kelly M. Burkett, Lise Dubois

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The association of the <it>Clock 3111 T/C </it>SNP with lipids and lipoproteins including small dense low-density lipoprotein: results from the Mima study by Takahashi Kaoru, Fujiwara Shinji, Sano Yoshiko, Kotani Kazuhiko, Tsuzaki Kokoro, Sakane Naoki

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Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer by Linhares José Juvenal, Azevedo Marcos, Siufi Adalberto Abraão, de Carvalho Cristina Valleta, Wolgien Maria Del Carmen Garcia Molina, Noronha Emmanuelle Coelho, Bonetti Tatiana Carvalho de Souza, da Silva Ismael Dale Cotrim Guerreiro

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SIRT1 (rs3740051) role in pituitary adenoma development by Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene, Loresa Kriauciuniene

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