Search Results - "Medical genetics

Epidemiological study of the patients referred for thalassemia diagnosis using chorionic villous sampling (CVS) in Genetic Laboratory of Dastgheib Hospital, Shiraz, 2011 by Fariba Ghahramani, Mohammad Amin Rezaei, Abdolreza Afrasiabi, Jamalledin Nejad

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RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects by Simin Zheng, Huanyang Huang, Li Ma, Tianwen Zhu

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Investigation of Genetic Mutations in High-risk and Low-risk Basal Cell Carcinoma in a Non-Caucasian Population by Whole Exome Sequencing by Hyun Jee Kim, Minho Lee, Young Bok Lee, Dong Soo Yu

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Clinical, Genetic, Biochemical, Hormonal, and Radiological Profile in Patients with Disorders of Sex Development Presenting at a Tertiary Care Center in Central India by Manisha B. Sinha, Charu Sharma

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A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj by Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

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Small patient datasets reveal genetic drivers of non-small cell lung cancer subtypes using machine learning for hypothesis generation by Moses Cook, Bessi Qorri, Amruth Baskar, Jalal Ziauddin, Luca Pani, Shashibushan Yenkanchi, Joseph Geraci

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Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency by Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report by Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

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The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad by Kumuda Irgam, Battini Sriteja Reddy, Sai Gayathri Hari, Swathi Banapuram, Battini Mohan Reddy

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Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression by Quiroga-Garza Gabriela, Piña-Oviedo Sergio, Cuevas-Ocampo Karime, Goldfarb Richard, Schwartz Mary R, Ayala Alberto G, Monzon Federico A

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Genetic modifiers of Hb E/β⁰thalassemia identified by a two-stage genome-wide association study by Winichagoon Pranee, Makarasara Wattanan, Angkachatchai Vach, Whitacre Johanna, Ma Qianli, Abel Kenneth, Sripichai Orapan, Sherva Richard, Svasti Saovaros, Fucharoen Suthat, Braun Andreas, Farrer Lindsay A

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Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer by Camila Martins de Carvalho, Letícia da Conceição Braga, Luciana Maria Silva, Anisse Marques Chami, Agnaldo Lopes da Silva Filho

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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations by Picciau Andrea, Sassu Alessandro, Persico Ivana, Fraumene Cristina, Cabras Valentina, Adamo Mauro, Pirastu Nicola, Fanciulli Manuela, Concas Maria P, Mocci Evelina, Prodi Dionigio A, Serra Donatella, Biino Ginevra, Pirastu Mario, Angius Andrea

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Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population by Ichiishi Eiichiro, Yoshikawa Toshikazu, Nakamura Naoto, Kunika Kiyoshi, Keshavarz Parvaneh, Fujita Yuka, Nomura Kyoko, Osabe Dai, Tanahashi Toshihito, Moritani Maki, Yamaguchi Yuka, Shiota Hiroshi, Yasui Natsuo, Inoue Hiroshi, Itakura Mitsuo

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Association of NAT2 genetic polymorphism with the efficacy of Neurotropin® for the enhancement of aggrecan gene expression in nucleus pulposus cells: a pilot study by Tomoko Nakai, Daisuke Sakai, Yoshihiko Nakamura, Natsumi Horikita, Erika Matsushita, Mitsuru Naiki, Masahiko Watanabe

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Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression by Yonneau Laurent, Méjean Arnaud, Denoux Yves, Giraud Sophie, Gad Sophie, Nordenskjöld Magnus, Bergerheim Ulf, Aly Markus, Zickert Peter, Sääf Annika, Yang Ximing J, Chen Jindong, Dykema Karl J, Niemi Natalie M, Petillo David, Klomp Jeff A, Vasiliu Viorel, Richard Stéphane, MacKeigan Jeffrey P, Teh Bin T, Furge Kyle A

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Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen by Brambilla Donald, Clair Betsy, McKie Virgil C, Snieder Harold, Adams Gaye T, Adams Robert J, Kutlar Ferdane, Kutlar Abdullah

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<it>PRNP </it>variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism by Will Robert G, Heath Craig A, Pennington Catherine, Bishop Matthew T, Knight Richard SG

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Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion by Motohiro Sekiya, Takaaki Matsuda, Yuki Yamamoto, Yasuhisa Furuta, Mariko Ohyama, Yuki Murayama, Yoko Sugano, Yoshinori Ohsaki, Hitoshi Iwasaki, Naoya Yahagi, Shigeru Yatoh, Hiroaki Suzuki, Hitoshi Shimano

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Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience by Tatiana S. Belysheva, Tatiana V. Nasedkina, Timur T. Valiev, Elena V. Sharapova, Vera V. Semenova, Valentina M. Kozlova, Svetlana N. Mikhaylova, Irina S. Kletskaya, Alexey V. Butuzov, Yana V. Vishnevskaja, Valeria V. Lozovaya, Olga A. Gusarova, Armen O. Tumanyan, Olga A. Malichova, Svetlana R. Varfolomeeva

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