Ausgabe 1/2015
Inhalt (117 Artikel)
The rare BRAF VK600-601E mutation as a possible indicator of poor prognosis in rectal carcinoma – a report of a case
Yoshiko Mori, Takeshi Nagasaka, Hideyuki Mishima, Yuzo Umeda, Ryo Inada, Hiroyuki Kishimoto, Ajay Goel, Toshiyoshi Fujiwara
Investigation of prognostic value of polymorphisms within estrogen metabolizing genes in Lithuanian breast cancer patients
Aistė Savukaitytė, Rasa Ugenskienė, Roberta Jankauskaitė, Darius Čereškevičius, Eglė Šepetauskienė, Elona Juozaitytė
Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment
Sanna Häkli, Mirja Luotonen, Martti Sorri, Kari Majamaa
Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer
Siana N Mtatiro, Josephine Mgaya, Tarjinder Singh, Harvest Mariki, Helen Rooks, Deogratius Soka, Bruno Mmbando, Swee Lay Thein, Jeffrey C Barrett, Julie Makani, Sharon E Cox, Stephan Menzel
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar, Mohammed Faruq
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
Said Farschtschi, Victor-Felix Mautner, Silke Hollants, Christian Hagel, Marijke Spaepen, Christoph Schulte, Eric Legius, Hilde Brems
c.620C>T mutation in GATA4 is associated with congenital heart disease in South India
Saidulu Mattapally, Sheikh Nizamuddin, Kona Samba Murthy, Kumarasamy Thangaraj, Sanjay K Banerjee
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo, James A Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Claudio Castro, Paulo Marcio Yamaguti, Lilian M Paula, David A Parry, Clare V Logan, Claire E L Smith, Colin A Johnson, Chris F Inglehearn, Alan J Mighell
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
Guney Bademci, Akeem O Lasisi, Kemal O Yariz, Paola Montenegro, Ibis Menendez, Rodrigo Vinueza, Rosario Paredes, Germania Moreta, Asli Subasioglu, Susan Blanton, Suat Fitoz, Armagan Incesulu, Levent Sennaroglu, Mustafa Tekin
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
Mark Nellist, Rutger WW Brouwer, Christel EM Kockx, Monique van Veghel-Plandsoen, Caroline Withagen-Hermans, Lida Prins-Bakker, Marianne Hoogeveen-Westerveld, Alan Mrsic, Mike MP van den Berg, Anna E Koopmans, Marie-Claire de Wit, Floor E Jansen, Anneke JA Maat-Kievit, Ans van den Ouweland, Dicky Halley, Annelies de Klein, Wilfred FJ van IJcken
RNASET2 tag SNP but not CCR6 polymorphisms is associated with autoimmune thyroid diseases in the Chinese Han population
Xiao-jun Chen, Xiao-hua Gong, Ni Yan, Shuai Meng, Qiu Qin, Yan-Fei Jiang, Hai-Yan Zheng, Jin-an Zhang
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review
Ayman W El-Hattab, Christian P Schaaf, Ping Fang, Elizabeth Roeder, Virginia E Kimonis, Joseph A Church, Ankita Patel, Sau Wai Cheung
Validation study of candidate single nucleotide polymorphisms associated with left ventricular hypertrophy in the Korean population
Jin-Kyu Park, Mi Kyung Kim, Bo Youl Choi, Yusun Jung, Kyuyoung Song, Yu Mi Kim, Jinho Shin
Variation in DNAH1 may contribute to primary ciliary dyskinesia
Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed
Independent and combined effects of environmental factors and CYP2C19 polymorphisms on the risk of esophageal squamous cell carcinoma in Fujian Province of China
Xian-E Peng, Hua-Fang Chen, Zhi-Jian Hu, Xi-Shun Shi
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Cecilia Mancini, Laura Orsi, Yiran Guo, Jiankang Li, Yulan Chen, Fengxiang Wang, Lifeng Tian, Xuanzhu Liu, Jianguo Zhang, Hui Jiang, Bruce Shike Nmezi, Takashi Tatsuta, Elisa Giorgio, Eleonora Di Gregorio, Simona Cavalieri, Elisa Pozzi, Paolo Mortara, Maria Marcella Caglio, Alessandro Balducci, Lorenzo Pinessi, Thomas Langer, Quasar S Padiath, Hakon Hakonarson, Xiuqing Zhang, Alfredo Brusco
Impact of PTBP1 rs11085226 on glucose-stimulated insulin release in adult Danes
Tue H Hansen, Henrik Vestergaard, Torben Jørgensen, Marit Eika Jørgensen, Torsten Lauritzen, Ivan Brandslund, Cramer Christensen, Oluf Pedersen, Torben Hansen, Anette P Gjesing
Tissue-specific patterns of gene expression in the epithelium and stroma of normal colon in healthy individuals in an aspirin intervention trial
Sushma S Thomas, Karen W Makar, Lin Li, Yingye Zheng, Peiying Yang, Lisa Levy, Rebecca Yvonne Rudolph, Paul D Lampe, Min Yan, Sanford D Markowitz, Jeannette Bigler, Johanna W Lampe, John D Potter
Screening toll-like receptor markers to predict latent tuberculosis infection and subsequent tuberculosis disease in a Chinese population
Linlin Wu, Yi Hu, Dange Li, Weili Jiang, Biao Xu
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
Maria Rosaria D’Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Francesca Gullotta, Norma Licata, Daniela Minella, Barbara Testa, Anna Maria Nardone, Giampiero Palmieri, Emma Calabrese, Livia Biancone, Caterina Tanzarella, Marina Frontali, Federica Sangiuolo, Giuseppe Novelli, Francesco Pallone
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
Grażyna T Truszkowska, Zofia T Bilińska, Joanna Kosińska, Justyna Śleszycka, Małgorzata Rydzanicz, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Maria Bilińska, Piotr Stawiński, Ewa Michalak, Łukasz A Małek, Przemysław Chmielewski, Bogna Foss-Nieradko, Marcin M Machnicki, Tomasz Stokłosa, Joanna Ponińska, Łukasz Szumowski, Jacek Grzybowski, Jerzy Piwoński, Wojciech Drygas, Tomasz Zieliński, Rafał Płoski
TGFβ-1 and TGFBR2 polymorphisms, cooking oil fume exposure and risk of lung adenocarcinoma in Chinese nonsmoking females: a case control study
Yangwu Ren, Zhihua Yin, Kun Li, Yan Wan, Xuelian Li, Wei Wu, Peng Guan, Baosen Zhou
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome
Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen, Shaoke Chen
Germline TP53 mutational spectrum in French Canadians with breast cancer
Suzanna L Arcand, Mohammed R Akbari, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Steven A Narod, Patricia N Tonin
Association of 42 SNPs with genetic risk for cervical cancer: an extensive meta-analysis
Shaoshuai Wang, Haiying Sun, Yao Jia, Fangxu Tang, Hang Zhou, Xiong Li, Jin Zhou, Kecheng Huang, Qinghua Zhang, Ting Hu, Ru Yang, Changyu Wang, Ling Xi, Dongrui Deng, Hui Wang, Shixuan Wang, Ding Ma, Shuang Li
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Shuang Liu, Xiafei Hong, Cheng Shen, Quan Shi, Jian Wang, Feng Xiong, Zhengqing Qiu
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman, Jeremy Schwartzentruber, Jacek Majewski, Cheryl Rockman-Greenberg
Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women
Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert, Luigi Bouchard
A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Helen Fryssira, Stella Amenta, Deniz Kanber, Christalena Sofocleous, Evangelia Lykopoulou, Christina Kanaka-Gantenbein, Flavia Cerrato, Hermann-Josef Lüdecke, Susanne Bens, Andrea Riccio, Karin Buiting
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F Kingsmore, Nicole P Safina
Pharmacogenetics and the print media: what is the public told?
Basima Almomani, Ahmed F Hawwa, Nicola A Goodfellow, Jeffrey S Millership, James C McElnay
Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India
Rohit Shetty, Rudy M.M.A. Nuijts, Soumya Ganesh Nanaiah, Venkata Ramana Anandula, Arkasubhra Ghosh, Chaitra Jayadev, Natasha Pahuja, Govindasamy Kumaramanickavel, Jeyabalan Nallathambi
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations
Ivone US Leong, Alexander Stuckey, Daniel Lai, Jonathan R Skinner, Donald R Love
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report
Emma Montgomery, John A. Sayer, Laura A. Baines, Ann Marie Hynes, Virginia Vega-Warner, Sally Johnson, Judith A. Goodship, Edgar A. Otto
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, Jean Muller, Nathalie Drouot, Farida Ferrat, Samira Makri, Malika Chaouch, Meriem Tazir, Michel Koenig, Traki Benhassine
Gender difference in adiponectin associated with cardiovascular mortality
Urban Alehagen, Emina Vorkapic, Liza Ljungberg, Toste Länne, Dick Wågsäter
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report
Elizabeth E. Norgett, Anthony Yii, Katherine G. Blake-Palmer, Mostafa Sharifian, Louise E. Allen, Abdolhamid Najafi, Ariana Kariminejad, Fiona E. Karet Frankl
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
Cristina Cabrera-López, Gemma Bullich, Teresa Martí, Violeta Català, Jose Ballarín, John J. Bissler, Peter C. Harris, Elisabet Ars, Roser Torra
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function
Laura Roos, Birgitte Bertelsen, Pernille Harris, Anette Bygum, Hanne Jensen, Karen Grønskov, Zeynep Tümer
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d’Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong
Multiplex pyrosequencing assay using AdvISER-MH-PYRO algorithm: a case for rapid and cost-effective genotyping analysis of prostate cancer risk-associated SNPs
Jérôme Ambroise, Valentina Butoescu, Annie Robert, Bertrand Tombal, Jean-Luc Gala
Demographic, psychosocial, and genetic risk associated with smokeless tobacco use among Mexican heritage youth
Anna V. Wilkinson, Laura M. Koehly, Elizabeth A. Vandewater, Robert K. Yu, Susan P. Fisher-Hoch, Alexander V. Prokhorov, Harold W. Kohl, Margaret R. Spitz, Sanjay Shete
Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression
Caroline Montén, Audur H. Gudjonsdottir, Lars Browaldh, Henrik Arnell, Staffan Nilsson, Daniel Agardh, Åsa Torinsson Naluai
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder
Jillian P. Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R. Betts, Jane S. Lucas, Basil Elnazir, Sally Ann Lynch
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model
Roseli García-Cruz, Maria Camats, George A. Calin, Chang-Gong Liu, Stefano Volinia, Cristian Taccioli, Carlo M. Croce, Montse Bach-Elias
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement
Chiara Magri, Eleonora Marchina, Valeria Bertini, Michele Traversa, Giulia Savio, Alba Pilotta, Giovanna Piovani
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
Yanan Zong, Ning Liu, Zhenhua Zhao, Xiangdong Kong
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism
Wei Liu, John KL Wong, Qiuming He, Emily HM Wong, Clara SM Tang, Ruizhong Zhang, Man-ting So, Kenneth KY Wong, John Nicholls, Stacey S Cherny, Pak C Sham, Paul K Tam, Maria-Mercè Garcia-Barcelo, Huimin Xia
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome
W. Kelmemi, M. E. Teeuw, Z. Bochdanovits, S. Ouburg, M. A. Jonker, F. Alkuraya, M. Hashem, H. Kayserili, A. van Haeringen, E. Sheridan, A. Masri, J. M. Cobben, P. Rizzu, P. J. Kostense, C. J. Dommering, L. Henneman, H. Bouhamed-Chaabouni, P. Heutink, L. P. ten Kate, M. C. Cornel
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P. van de Warrenburg, Stephan Züchner, Michael Anthony Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S. Verbeek, Jonathan Baets
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study
Jan Bressler, Nora Franceschini, Ellen W. Demerath, Thomas H. Mosley, Aaron R. Folsom, Eric Boerwinkle
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description
Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni
Evaluation of an association between plasma total homocysteine and schizophrenia by a Mendelian randomization analysis
Shusuke Numata, Makoto Kinoshita, Atsushi Tajima, Akira Nishi, Issei Imoto, Tetsuro Ohmori
Genetic contribution to multiple sclerosis risk among Ashkenazi Jews
Pouya Khankhanian, Takuya Matsushita, Lohith Madireddy, Antoine Lizée, Lennox Din, Jayaji M Moré, Pierre-Antoine Gourraud, Stephen L Hauser, Sergio E Baranzini, Jorge R Oksenberg
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
Sarah C. Grünert, A. Wehrle, P. Villavicencio-Lorini, E. Lausch, B. Vetter, K. O. Schwab, S. Tucci, U. Spiekerkoetter
Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing
Xiuqing Ji, Dong Liang, Ruihong Sun, Cuiyun Liu, Dingyuan Ma, Yan Wang, Ping Hu, Zhengfeng Xu
Sex-specific genetic effects in physical activity: results from a quantitative genetic analysis
Vincent P. Diego, Raquel Nichele de Chaves, John Blangero, Michele Caroline de Souza, Daniel Santos, Thayse Natacha Gomes, Fernanda Karina dos Santos, Rui Garganta, Peter T. Katzmarzyk, José AR Maia
Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth
Inge Christiaens, Q. Wei Ang, Lindsay N. Gordon, Xin Fang, Scott M. Williams, Craig E. Pennell, David M. Olson
Genetic variations of MUC17 are associated with endometriosis development and related infertility
Ching-Wen Yang, Cherry Yin-Yi Chang, Ming-Tsung Lai, Hui-Wen Chang, Cheng-Chan Lu, Yi Chen, Chih-Mei Chen, Shan-Chih Lee, Pei-Wen Tsai, Su-Han Yang, Chih-Hung Lin, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Rick van Minkelen, Miriam Guitart, Conxita Escofet, Grace Yoon, Peter Elfferich, Galhana M. Bolman, Robert van der Helm, Raoul van de Graaf, Ans M.W. van den Ouweland
Adjusting heterogeneous ascertainment bias for genetic association analysis with extended families
Suyeon Park, Sungyoung Lee, Young Lee, Christine Herold, Basavaraj Hooli, Kristina Mullin, Taesung Park, Changsoon Park, Lars Bertram, Christoph Lange, Rudolph Tanzi, Sungho Won
Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth
Immaculate Mbongo Langmia, Yamunah Devi Apalasamy, Siti Zawaih Omar, Zahurin Mohamed
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease
Noel C. Wortham, Christopher G. Proud
Gender-specific associations between ADIPOQ gene polymorphisms and adiponectin levels and obesity in the Jackson Heart Study cohort
Pia Riestra, Samson Y. Gebreab, Ruihua Xu, Rumana J. Khan, Aurelian Bidulescu, Adolfo Correa, Fasil Tekola-Ayele, Sharon K. Davis
Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study
Zhao-Wei Zhou, Ling-Ling Cui, Lin Han, Can Wang, Zhi-Jian Song, Jia-Wei Shen, Zhi-Qiang Li, Jian-Hua Chen, Zu-Jia Wen, Xiao-Min Wang, Yong-Yong Shi, Chang-Gui Li
SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers
Kanako Okamoto, Ryosuke Tsunematsu, Tomoko Tahira, Kenzo Sonoda, Kazuo Asanoma, Hiroshi Yagi, Tomoko Yoneda, Kenshi Hayashi, Norio Wake, Kiyoko Kato
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
María Moreno-Igoa, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, María Antonia Ramos-Arroyo
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Massimo Carella, Antonio Petracca, Agostina De Crescenzo, Leopoldo Zelante, Andrea Riccio, Maurizio de Martino
Genetic polymorphisms associated with the inflammatory response in bacterial meningitis
Fabrícia Lima Fontes, Luíza Ferreira de Araújo, Leonam Gomes Coutinho, Stephen L. Leib, Lucymara Fassarella Agnez-Lima
The importance of distinguishing between the odds ratio and the incidence rate ratio in GWAS
Berit Lindum Waltoft, Carsten Bøcker Pedersen, Mette Nyegaard, Asger Hobolth
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients
Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Julio Escribano, Pedro P. Rodríguez-Calvo, Luis Fernández-Vega, Miguel Coca-Prados
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
Min Xue, Jie Zheng, Qing Zhou, J. Fielding Hejtmancik, Yuan Wang, Shouling Li
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency
M. Giordano, C. Gertosio, S. Pagani, C. Meazza, I. Fusco, E. Bozzola, M. Bozzola
Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case–control study
Naoki Goda, Haruna Murase, Nobuhiko Kasezawa, Toshinao Goda, Kimiko Yamakawa-Kobayashi
Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population
Xin Hou, Jinyuan Mao, Yushu Li, Jia Li, Weiwei Wang, Chenling Fan, Hong Wang, Hongmei Zhang, Zhongyan Shan, Weiping Teng
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Florence Renaldo, Imen Dorboz, Cécile Pagan, Samuel Quentin, Monique Elmaleh, Christina Kotsogianni, Elissavet Konstantelou, Séverine Drunat, Anne-Claude Tabet, Odile Boespflug-Tanguy
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio, Bruno Dallapiccola
Hair shaft structures in EDAR induced ectodermal dysplasia
C. Stecksén-Blicks, C. Falk Kieri, D. Hägg, M. Schmitt-Egenolf
Spinal ependymoma in a patient with Kabuki syndrome: a case report
Davide Roma, Paolo Palma, Rossella Capolino, Lorenzo Figà-Talamanca, Francesca Diomedi-Camassei, Francesca Romana Lepri, Maria Cristina Digilio, Carlo Efisio Marras, Raffaella Messina, Andrea Carai, Franco Randi, Angela Mastronuzzi
Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591
Katherine Johnson, Louise N. Reynard, John Loughlin
β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study
Pingsheng Wu, Emma K Larkin, Sara S Reiss, Kecia N Carroll, Marshall L Summar, Patricia A Minton, Kimberly B Woodward, Zhouwen Liu, Jessica Y Islam, Tina V Hartert, Paul E Moore
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
Hai-Rong Shu, Huai Bi, Yang-Chun Pan, Hang-Yu Xu, Jian-Xin Song, Jie Hu
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population
Ilze Radovica-Spalvina, Gustavs Latkovskis, Ivars Silamikelis, Davids Fridmanis, Ilze Elbere, Karlis Ventins, Guna Ozola, Andrejs Erglis, Janis Klovins
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
Milena Urbini, Annalisa Astolfi, Valentina Indio, Michael C. Heinrich, Christopher L. Corless, Margherita Nannini, Gloria Ravegnini, Guido Biasco, Maria A. Pantaleo
NPHS2 mutations account for only 15 % of nephrotic syndrome cases
Mara Sanches Guaragna, Anna Cristina GB Lutaif, Cristiane SC Piveta, Marcela L. Souza, Suéllen R. de Souza, Taciane B. Henriques, Andréa T. Maciel-Guerra, Vera MS Belangero, Gil Guerra-Junior, Maricilda P. De Mello
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
Berta Luzón-Toro, Laura Espino-Paisán, Raquel Ma. Fernández, Marta Martín-Sánchez, Guillermo Antiñolo, Salud Borrego
Angiogenesis related genes NOS3, CD14, MMP3 and IL4R are associated to VEGF gene expression and circulating levels in healthy adults
Abdelsalam Saleh, Maria G. Stathopoulou, Sébastien Dadé, Ndeye Coumba Ndiaye, Mohsen Azimi-Nezhad, Helena Murray, Christine Masson, John Lamont, Peter Fitzgerald, Sophie Visvikis-Siest
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription
John A. Smestad, L. James Maher III
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation
Mei-Cen Zhou, Rui Min, Jian-Jun Ji, Shi Zhang, An-Li Tong, Jian-ping Xu, Zeng-Yi Li, Hua-Bing Zhang, Yu-Xiu Li
MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study
Pi-Jung Hsiao, Mei-Yueh Lee, Yeng-Tseng Wang, He-Jiun Jiang, Pi-Chen Lin, Yi-Hsin Connie Yang, Kung-Kai Kuo
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis
Patrizia Dello Russo, Alessandra Franzoni, Federica Baldan, Cinzia Puppin, Giovanna De Maglio, Carla Pittini, Luigi Cattarossi, Stefano Pizzolitto, Giuseppe Damante
Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen, Otto Westphal, Göran Annerén, Marie-Louise Bondeson
Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology
Charlotte Hellmich, Claire Durant, Matthew W. Jones, Nicholas J. Timpson, Ullrich Bartsch, Laura J. Corbin
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin
Stephen Pan, Ruth F. Sommese, Karim I. Sallam, Suman Nag, Shirley Sutton, Susan M. Miller, James A. Spudich, Kathleen M. Ruppel, Euan A. Ashley
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease
Jun Miyazaki, Mayuko Ito, Haruki Nishizawa, Takema Kato, Yukito Minami, Hidehito Inagaki, Tamae Ohye, Masafumi Miyata, Hiroko Boda, Yuka Kiriyama, Makoto Kuroda, Takao Sekiya, Hiroki Kurahashi, Takuma Fujii
Erratum to: Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study
Zhao-Wei Zhou, Ling-Ling Cui, Lin Han, Can Wang, Zhi-Jian Song, Jia-Wei Shen, Zhi-Qiang Li, Jian-Hua Chen, Zu-Jia Wen, Xiao-Min Wang, Yong-Yong Shi, Chang-Gui Li
Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project
Jessica L. Larson, Ari J. Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee M. Silver
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
Huijun Wang, Yanyan Qian, Bingbing Wu, Ping Zhang, Wenhao Zhou
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities
Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson, Sha Tang
Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans
Daniel Shriner, Chutima Kumkhaek, Ayo P. Doumatey, Guanjie Chen, Amy R. Bentley, Bashira A. Charles, Jie Zhou, Adebowale Adeyemo, Griffin P. Rodgers, Charles N. Rotimi
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A. Chioza, Tribhuvan M. Mohapatra, Emma L. Baple, Michael A. Patton, Thomas T. Warner, Christos Proukakis, Abhi Kulkarni, Andrew H. Crosby
Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case–control study
Mette Hollensted, Tarunveer S Ahluwalia, Christian Theil Have, Niels Grarup, Cilius Esmann Fonvig, Tenna Ruest Haarmark Nielsen, Cæcilie Trier, Lavinia Paternoster, Oluf Pedersen, Jens-Christian Holm, Thorkild I A Sørensen, Torben Hansen
Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study
Vipavee Niemsiri, Xingbin Wang, Dilek Pirim, Zaheda H. Radwan, Clareann H. Bunker, M. Michael Barmada, M. Ilyas Kamboh, F. Yesim Demirci
Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility
Diego Chacon-Cortes, Robert A. Smith, Larisa M. Haupt, Rodney A. Lea, Philippa H. Youl, Lyn R. Griffiths
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874
Colin Shepherd, Andrew J. Skelton, Michael D. Rushton, Louise N. Reynard, John Loughlin
Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
Mi-Ae Jang, Sue Shin, Jong Hyun Yoon, Chang-Seok Ki
No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome
Philipp Romero, Stefanie Schmitteckert, Mira M. Wouters, Lesley A. Houghton, Bastian Czogalla, Gregory S. Sayuk, Guy E. Boeckxstaens, Patrick Guenther, Stefan Holland-Cunz, Beate Niesler
Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy
Samantha L. Wilson, John D. Blair, Kirsten Hogg, Sylvie Langlois, Peter von Dadelszen, Wendy P. Robinson
MECP2 duplication syndrome in a Chinese family
Qingping Zhang, Ying Zhao, Yanling Yang, Xinhua Bao
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, Svend Rand-Hendriksen, Odd Geiran, Eirik Frengen, Benedicte Paus
Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study
Shafqat Ahmad, Wei Zhao, Frida Renström, Asif Rasheed, Maria Samuel, Mozzam Zaidi, Nabi Shah, Nadeem Hayyat Mallick, Khan Shah Zaman, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rheman Memon, Bashir Hanif, Muhammad Shakir Lakhani, Faisal Ahmed, Shahana Urooj Kazmi, Philippe Frossard, Paul W. Franks, Danish Saleheen
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR)
Andrew Turner, Jurgen Sasse, Aniko Varadi
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
Lena Obeidova, Tomas Seeman, Veronika Elisakova, Jana Reiterova, Alena Puchmajerova, Jitka Stekrova
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert, Wibke Reinhard