Search Results - "genetic testing"

Prevalence and oncologic outcomes of mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea by Jun Hyeong Seo, Soo Young Jeong, Myeong Seon Kim, Jun Hyeok Kang, E Sun Paik, Yoo-Young Lee, Tae-Joong Kim, Jeong-Won Lee, Byoung-Gie Kim, Duk-Soo Bae, Chel Hun Choi

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Syndromic ciliopathy: a taiwanese single-center study by Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

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Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up by Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

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NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti by Jiang J, Zeng J, He Q, Yang J, Wang S, Zhang Z

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Recurrent ocular toxoplasmosis infection in a patient with a selective deficiency of NK T-cells and cytotoxic СD8+ T-cells associated with a genetic folate cycle deficiency by D. V. Maltsev, O. O. Hurzhii

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The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women by Amerigo Ferrari, Federico Pennestrì, Manila Bonciani, Giuseppe Banfi, Milena Vainieri, Rossella Tomaiuolo

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Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Sug... by Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viassolo

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection by Stuart A. Scott, Erick R. Scott, Yoshinori Seki, Annette J. Chen, Richard Wallsten, Aniwaa Owusu Obeng, Mariana R. Botton, Neal Cody, Huanzhi Shi, Geping Zhao, Paul Brake, Paola Nicoletti, Yao Yang, Maria Delio, Lisong Shi, Ruth Kornreich, Eric E. Schadt, Lisa Edelmann

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The response to receiving phenotypic and genetic coronary heart disease risk scores and lifestyle advice - a qualitative study by Guy Shefer, Barbora Silarova, Juliet Usher-Smith, Simon Griffin

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Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review by Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu

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Body mass index is negatively associated with a good perinatal outcome after in vitro fertilization among patients with polycystic ovary syndrome: a national study by Jenna S. Hynes, M.D, Jeremy M. Weber, M.S, Tracy Truong, M.S, Kelly S. Acharya, M.D, Jennifer L. Eaton, M.D., M.S.C.I

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Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review by Hyun Sun Ko, Dong Wook Kwak, Soo-young Oh, Sae Kyung Choi, Joon Seok Hong, Han Sung Hwang, Hyun Soo Park, Hyun-Joo Seol, Moon Young Kim, Sa Jin Kim, Joong Shin Park

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Novel ploidy analysis in ectopic pregnancy by Rachel S. Ruderman, M.D., M.P.H, Dana B. McQueen, M.D, Jared C. Robins, M.D, Kurt T. Barnhart, M.D., M.Sc.E, Melissa K. Maisenbacher, M.S, Eve C. Feinberg, M.D

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Diet and exercise changes following direct-to-consumer personal genomic testing by Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J. Scott Roberts, Robert C. Green, for the PGen Study Group

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Ovarian cyst torsion in Prader-Willi Syndrome by Ji-cun Zhao, Heng Huang, Hong-lei Gong, Qing-kai Zhao, He Wu

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A polymorphic variant of rs440837 A>G in the <i>ZBTB10</i> gene is associated with the occurrence of moderately differentiated breast cancer by Konstantin N. Pasenov, Irina V. Ponomarenko, Mikhail I. Churnosov

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Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report by Joanna Jaworska, Aleksandra Marach-Mocarska, Dorota Sands

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Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report by Ying Wang, Ying Wang, Qingnan He, Xiqiang Dang, Xiqiang Dang, Xiaochuan Wu, Xiaochuan Wu, Xiaoyan Li, Xiaoyan Li

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A Case of Floating-Harbor Syndrome with &ldquo;Growth and Language Development Delay&rdquo; as Its Clinical Manifestation by Yang YC, Tang Q, Yan LJ, Zhang SB, Ye XM, Gong D, Zou L, Wen XL

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Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report by Ming Hu, Shuang Chen, Jinyuan Wu, Rong Wang

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