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Zeitschrift

BMC Medical Genetics

BMC Medical Genetics 1/2017

Ausgabe 1/2017

Inhaltsverzeichnis ( 151 Artikel )

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin, Qian Pan

01.12.2017 | Technical advance | Ausgabe 1/2017 Open Access

Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study

Geetha Chittoor, Karin Haack, Nitesh R. Mehta, Sandra Laston, Shelley A. Cole, Anthony G. Comuzzie, Nancy F. Butte, V. Saroja Voruganti

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

CpG Methylation across the adipogenic PPARγ gene and its relationship with birthweight and child BMI at 9 years

Vitaly Volberg, Paul Yousefi, Karen Huen, Kim Harley, Brenda Eskenazi, Nina Holland

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Won Il Heo, Kui Young Park, Taewon Jin, Mi-Kyung Lee, MinJeong Kim, Eung Ho Choi, Hae-Suk Kim, Jung Min Bae, Nam Ju Moon, Seong Jun Seo

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D’Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F. Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J. Keating, Hui Jiang, Hakon Hakonarson, Danielle R. Reed, George Preti

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Microsatellite polymorphisms associated with human behavioural and psychological phenotypes including a gene-environment interaction

Andrew T. M. Bagshaw, L. John Horwood, David M. Fergusson, Neil J. Gemmell, Martin A. Kennedy

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

Wen’an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong, Buling Wu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Heidi K. Soini, Antti Väisänen, Mikko Kärppä, Reetta Hinttala, Laura Kytövuori, Jukka S. Moilanen, Johanna Uusimaa, Kari Majamaa

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

Shiyuan Zhou, Hongyu Ma, Bo Gao, Guangming Fang, Yi Zeng, Qing Zhang, GaoFu Qi

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

BCL-2 and MYC gain/amplification is correlated with central nervous system involvement in diffuse large B cell lymphoma at leukemic phase

Dehui Zou, Shuhua Yi, Rui Cui, Wei Liu, Chengwen Li, Shizhen Zhong, Zhen Yu, Zengjun Li, Rui Lv, Kun Ru, Huijun Wang, Gang An, Yan Xu, Lugui Qiu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

African ancestry is associated with facial melasma in women: a cross-sectional study

Maria Paula Barbieri D’Elia, Marcela Calixto Brandão, Bruna Ribeiro de Andrade Ramos, Márcia Guimarães da Silva, Luciane Donida Bartoli Miot, Sidney Emanuel Batista dos Santos, Hélio Amante Miot

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population

V. Henmyr, D. Carlberg, E. Manderstedt, C. Lind-Halldén, T. Säll, L. O. Cardell, C. Halldén

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report

Jing-Hui Chen, Jing-Jing Zheng, Qin Guo, Chao Liu, Bin Luo, Shuang-Bo Tang, Jian-Ding Cheng, Er-Wen Huang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez, Luisa M. Botella

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

DNA methylation profiles of elderly individuals subjected to indentured childhood labor and trauma

Zoya Marinova, Andreas Maercker, Andreas Küffer, Mark D. Robinson, Tomasz K. Wojdacz, Susanne Walitza, Edna Grünblatt, Andrea Burri

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia

Seong Gu Heo, Youngil Koh, Jong Kwang Kim, Jongsun Jung, Hyung-Lae Kim, Sung-Soo Yoon, Ji Wan Park

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy

Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y. Cheong, Ali J. Marian

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D. van Helden, Eileen G. Hoal, Monika Esser, Michael Urban, Marlo Möller

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4

Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll, Nikoletta Nagy

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Early-onset of ADCK4 glomerulopathy with renal failure: a case report

Ksenija Lolin, Benedetta D. Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan, Khalid Ismaili

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

Elizna M. Schoeman, Francois H. Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V. Y. Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W. Taylor, Julia L. Newton, Joanna L. Elson

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes

Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

TRPM4 non-selective cation channel variants in long QT syndrome

Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Mitochondrial mutations in maternally inherited hearing loss

Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

Sulman Basit, Alia M. Albalawi, Essa Alharby, Khalid I. Khoshhal

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta, Hercílio Martelli-Júnior

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson, Peter Hackman

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population

Xinze Cai, Wenyue Huang, Xudong Liu, Lining Wang, Yi Jiang

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart, Isabelle Beau

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population

Wen-Yi Yang, Thibault Petit, Nicholas Cauwenberghs, Zhen-Yu Zhang, Chang-Sheng Sheng, Lutgarde Thijs, Erika Salvi, Benedetta Izzi, Christophe Vandenbriele, Fang-Fei Wei, Yu-Mei Gu, Lotte Jacobs, Lorena Citterio, Simona Delli Carpini, Cristina Barlassina, Daniele Cusi, Marc F. Hoylaerts, Peter Verhamme, Tatiana Kuznetsova, Jan A. Staessen

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population

Marisela Villalobos-Comparán, Bárbara Antuna-Puente, María Teresa Villarreal-Molina, Samuel Canizales-Quinteros, Rafael Velázquez-Cruz, Paola León-Mimila, Hugo Villamil-Ramírez, Juan Antonio González-Barrios, José Luis Merino-García, María Rocío Thompson-Bonilla, Diego Jarquin, Osvaldo Erik Sánchez-Hernández, Martha Eunice Rodríguez-Arellano, Carlos Posadas-Romero, Gilberto Vargas-Alarcón, Francisco Campos-Pérez, Manuel Quiterio, Jorge Salmerón-Castro, Alessandra Carnevale, Sandra Romero-Hidalgo

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment

Se Ra Sung, Seung Hun Song, Kyung Min Kang, Ji Eun Park, Yeo Jung Nam, Yun-jeong Shin, Dong Hyun Cha, Ju Tae Seo, Tae Ki Yoon, Sung Han Shim

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani, K. Heinimann

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A case–control study of selenoprotein genes polymorphisms and autoimmune thyroid diseases in a Chinese population

Ling Xiao, Jianghong Yuan, Qiuming Yao, Ni Yan, Ronghua Song, Wenjuan Jiang, Danfeng Li, Liangfeng Shi, Jin-an Zhang

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association of 4p14 and 6q27 variation with Graves disease: a case–control study and a meta-analysis of available evidence

Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu, Zhen-ju Song

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

01.12.2017 | Technical advance | Ausgabe 1/2017 Open Access

A simple, fast and inexpensive method for mutation scanning of CFTR gene

Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Teresa Collazo Mesa

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer

Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik, Nachimuthu Senthil Kumar

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment

Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang, Tianhua Niu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski, Beata Burzynska

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

Zhengfu Tai, Lulin Huang, Fang Lu, Yi Shi, Shi Ma, Jing Cheng, He Lin, Xin Liu, Yuanfeng Li, Zhenglin Yang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri, Riadh Gouider

01.12.2017 | Software | Ausgabe 1/2017 Open Access

f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya, Atsushi Shimizu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma

Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas, Paulina Vaitkiene

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen, Annika Rydberg

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study

Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap, Erlan Ramanculov

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Associations between male infertility and ancestry in South Americans: a case control study

Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni, Rossana Sapiro

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

Melanie M. Y. Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W. H. Bates, Daniel P. Gale

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Interaction between obesity and the Hypoxia Inducible Factor 3 Alpha Subunit rs3826795 polymorphism in relation with plasma alanine aminotransferase

Shuo Wang, Jieyun Song, Yide Yang, Yining Zhang, Nitesh V. Chawla, Jun Ma, Haijun Wang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Mengxia Ni, Mingchao Zhang, Weiwei Li, Qing Zhou, Yingxia Cui, Xinyi Xia

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A systematic review of genetic mutations in pulmonary arterial hypertension

Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez, Victor Trevino

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E. C. Cole

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study

Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X. Leng, Birong Dong

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports

Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets

Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki, Nobuoki Kohno

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: a systematic review and meta-analysis

Ai Ling Liu, Hui Jun Xie, Hong Yan Xie, Jun Liu, Jie Yin, Jin Song Hu, Cui Ying Peng

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Allelic variants in vitamin D receptor gene are associated with adiposity measures in the central-European population

Julie Bienertová-Vašků, Filip Zlámal, Aneta Pohořalá, Ondřej Mikeš, Monika Goldbergová-Pávková, Jan Novák, Zbyněk Šplíchal, Hynek Pikhart

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

Steffen Uebe, Maria Ehrlicher, Arif Bülent Ekici, Frank Behrens, Beate Böhm, Georg Homuth, Claudia Schurmann, Uwe Völker, Michael Jünger, Matthias Nauck, Henry Völzke, Heiko Traupe, Michael Krawczak, Harald Burkhardt, André Reis, Ulrike Hüffmeier

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production

Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms, Krupa Krishnaprasad, Graham L. Radford-Smith, Gerhard Moser, the International IBD Genetics Consortium

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis

Lina Yang, Lan Wu, Yi Fan, Jianfei Ma

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation

Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report

Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure

Qing-jun Chu, Rui Hua, Chen Luo, Qing-jie Chen, Biao Wu, Song Quan, Yong-tong Zhu

01.12.2017 | Erratum | Ausgabe 1/2017 Open Access

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E.C. Cole

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents

Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene, Vaiva Lesauskaite

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

The (FTO) gene polymorphism is associated with metabolic syndrome risk in Egyptian females: a case- control study

Mina S. Khella, Nadia M. Hamdy, Ashraf I. Amin, Hala O. El-Mesallamy

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

Bo-Young Kim, Mi-Hyun Park, Hae-Mi Woo, Hye-Yeong Jo, Ji Hoon Kim, Hyung Jin Choi, Soo Kyung Koo

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood

María Correa-Rodríguez, Sebastien Viatte, Jonathan Massey, Jacqueline Schmidt-RioValle, Blanca Rueda-Medina, Gisela Orozco

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands

Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma, Kanchan Mukhopadhyay

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

Tereza Cristina Pinheiro Diogenes, Felipe Alves Mourato, José Luiz de Lima Filho, Sandra da Silva Mattos

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Relationship between interpersonal sensitivity and leukocyte telomere length

Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto, Koichi Otani

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Ali J. Marian

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Sustained endocrine profiles of a girl with WAGR syndrome

Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Lack of associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol dependence: review and meta-analysis of retrospective controlled studies

Xiangyi Kong, Hao Deng, Shun Gong, Theodore Alston, Yanguo Kong, Jingping Wang

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis

Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo, Marcela Guevara, Beatriz Perez-Gomez, Virginia Lope, José María Huerta, Gemma Castaño-Vinyals, Manolis Kogevinas, Victor Moreno, Vicente Martín

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

No association between the progesterone receptor gene polymorphism (+331G/a) and the risk of breast cancer: an updated meta-analysis

Xing-ling Qi, Jun Yao, Yong Zhang

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD

Jinqiao Sun, Min Wen, Ying Wang, Danru Liu, Wenjing Ying, Xiaochuan Wang

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study

Sahar Gamil, Jeanette Erdmann, Ihab B. Abdalrahman, Abdelrahim O. Mohamed

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient

Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case–case–control study

Justin Z. Amarin, Randa G. Naffa, Haya H. Suradi, Yousof M. Alsaket, Nathir M. Obeidat, Tareq M. Mahafza, Malek A. Zihlif

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget’s disease of bone

Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P. Brown, Laëtitia Michou

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan, Changying Chen

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Breast cancer protection by genomic imprinting in close kin families

Srdjan Denic, Mukesh M. Agarwal

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction

Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M. Albert, Jacob Tfelt-Hansen

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma, Jacques Simpore

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population

Isabelle C. C. dos Santos, Julieta Genre, Diego Marques, Ananília M. G. da Silva, Jéssica C. dos Santos, Jéssica N. G. de Araújo, Victor H. R. Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C. de Oliveira Ramos, André D. Luchessi, Vivian N. Silbiger

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

ACTA2 mutation and postpartum hemorrhage: a case report

Kylie Cooper, Stephen Brown

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Exploring digenic inheritance in arrhythmogenic cardiomyopathy

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

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

The gene–treatment interaction of paraoxonase-1 gene polymorphism and statin therapy on insulin secretion in Japanese patients with type 2 diabetes: Fukuoka diabetes registry

Akiko Sumi, Udai Nakamura, Masanori Iwase, Hiroki Fujii, Toshiaki Ohkuma, Hitoshi Ide, Tamaki Jodai-Kitamura, Yuji Komorita, Masahito Yoshinari, Yoichiro Hirakawa, Atsushi Hirano, Michiaki Kubo, Takanari Kitazono

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report

Qiongyi Hu, Jing Liu, Yi Wang, Jiucun Wang, Hui Shi, Yue Sun, Xinyao Wu, Chengde Yang, Jialin Teng

01.12.2017 | Correction | Ausgabe 1/2017 Open Access

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung

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