Issue 1/2014
Content (142 Articles)
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity
Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli, Paolo Maiorca, Stefano Quinzani, Federica Verzeletti, Stefano Possenti, Marina Colombi, Giovanni Cancarini
A novel MIPgene mutation associated with autosomal dominant congenital cataracts in a Chinese family
Yibo Yu, Yinhui Yu, Peiqing Chen, Jinyu Li, Yanan Zhu, Yi Zhai, Ke Yao
Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini, Paolo Rossi, Maria Cristina Digilio, Claudio Pignata
Differences in serum SP-D levels between German and Japanese subjects are associated with SFTPDgene polymorphisms
Yasushi Horimasu, Noboru Hattori, Nobuhisa Ishikawa, Sonosuke Tanaka, Francesco Bonella, Shinichiro Ohshimo, Josune Guzman, Ulrich Costabel, Nobuoki Kohno
CCL3L1 copy number, CCR5genotype and susceptibility to tuberculosis
Danielle Carpenter, Carmen Taype, Jon Goulding, Mike Levin, Brian Eley, Suzanne Anderson, Marie-Anne Shaw, John AL Armour
Adult phenotype and further phenotypic variability in SRD5A3-CDG
Bülent Kara, Özgecan Ayhan, Gülden Gökçay, Nurdan Başboğaoğlu, Aslıhan Tolun
The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Maricilda Palandi de Mello
Endothelial nitric oxide synthase gene polymorphisms and risk of diabetic nephropathy: a systematic review and meta-analysis
Bruno Schmidt Dellamea, Lana Catani Ferreira Pinto, Cristiane Bauermann Leitão, Katia Gonçalves Santos, Luis Henrique Santos Canani
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren, Øivind Nilssen
A recall-by-genotype study of CHRNA5-A3-B4genotype, cotinine and smoking topography: study protocol
Jennifer J Ware, Nic Timpson, George Davey Smith, Marcus R Munafò
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
Wei Xu, Sarah Cohen-Woods, Qian Chen, Abdul Noor, Jo Knight, Georgina Hosang, Sagar V Parikh, Vincenzo De Luca, Federica Tozzi, Pierandrea Muglia, Julia Forte, Andrew McQuillin, Pingzhao Hu, Hugh MD Gurling, James L Kennedy, Peter McGuffin, Anne Farmer, John Strauss, John B Vincent
Associations between interleukin-1 gene polymorphisms and sepsis risk: a meta-analysis
An-qiang Zhang, Wei Pan, Jun-wei Gao, Cai-li Yue, Ling Zeng, Wei Gu, Jian-xin Jiang
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B Gorin
Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients
Veronika Polakova Vymetalkova, Jana Slyskova, Vlasta Korenkova, Ludovit Bielik, Lucie Langerova, Pavel Prochazka, Alexandra Rejhova, Lucie Schwarzova, Barbara Pardini, Alessio Naccarati, Pavel Vodicka
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Danijela Krgovic, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj Vokac
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene
Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis
Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3
Marie S Rye, Elizabeth SH Scaman, Ruth B Thornton, Shyan Vijayasekaran, Harvey L Coates, Richard W Francis, Craig E Pennell, Jenefer M Blackwell, Sarra E Jamieson
A simple method for gene phasing using mate pair sequencing
Kendall W Cradic, Stephen J Murphy, Travis M Drucker, Robert A Sikkink, Norman L Eberhardt, Claudia Neuhauser, George Vasmatzis, Stefan KG Grebe
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome
Guglielmina Pepe, Stefano Nistri, Betti Giusti, Elena Sticchi, Monica Attanasio, Cristina Porciani, Rosanna Abbate, Robert O Bonow, Magdi Yacoub, Gian Franco Gensini
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients
Ying Zhao, Xiaoying Zhang, Xinhua Bao, Qingping Zhang, Jingjing Zhang, Guangna Cao, Jie Zhang, Jiarui Li, Liping Wei, Hong Pan, Xiru Wu
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
Maria Marchese, Valerio Conti, Giulia Valvo, Francesca Moro, Filippo Muratori, Raffaella Tancredi, Filippo M Santorelli, Renzo Guerrini, Federico Sicca
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity
Hina Mir, Syed Irfan Raza, Muhammad Touseef, Mazhar Mustafa Memon, Muhammad Nasim Khan, Sulman Jaffar, Wasim Ahmad
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
Hugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E Bulman, Chandree L Beaulieu, Jacek Majewski, Kym M Boycott, Michael T Geraghty
Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
Fernando Augusto de Fernando Augusto de Lima Marson, Carmen Silvia Bertuzzo, Antonio Fernando Ribeiro, Jose Dirceu Ribeiro
Hypertension after preeclampsia and relation to the C1114G polymorphism (rs4606) in RGS2: data from the Norwegian HUNT2 study
Anne Stine Kvehaugen, Øyvind Melien, Oddgeir L Holmen, Hannele Laivuori, Ralf Dechend, Anne Cathrine Staff
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
Michael Christiansen, Paula L Hedley, Juliane Theilade, Birgitte Stoevring, Trond P Leren, Ole Eschen, Karina M Sørensen, Anne Tybjærg-Hansen, Lilian B Ousager, Lisbeth N Pedersen, Ruth Frikke-Schmidt, Frederik H Aidt, Michael G Hansen, Jim Hansen, Poul E Bloch Thomsen, Egon Toft, Finn L Henriksen, Henning Bundgaard, Henrik K Jensen, Jørgen K Kanters
Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred
Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa, Filippo M Santorelli
Expression analysis of genes and pathways associated with liver metastases of the uveal melanoma
Yuanyuan Zhang, Yong Yang, Lei Chen, Jianhong Zhang
Functional polymorphism in aldehyde dehydrogenase-2 gene associated with risk of tuberculosis
Seung Kyu Park, Choon-Sik Park, Hyo-Suk Lee, Kyong Soo Park, Byung Lae Park, Hyun Sub Cheong, Hyoung Doo Shin
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
Lena Obeidova, Veronika Elisakova, Jitka Stekrova, Jana Reiterova, Miroslav Merta, Vladimir Tesar, Frantisek Losan, Milada Kohoutova
NPAS3 variants in schizophrenia: a neuroimaging study
Denise Bernier, Georgina Macintyre, Robert Bartha, Christopher C Hanstock, David McAllindon, Diane Cox, Scot Purdon, Katherine J Aitchison, Benjamin Rusak, Philip G Tibbo
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family
Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu, Qizhu Wu
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
Teresa Tavassoli, Alexander Kolevzon, A Ting Wang, Jocelyn Curchack-Lichtin, Danielle Halpern, Lily Schwartz, Sarah Soffes, Lauren Bush, David Grodberg, Guiqing Cai, Joseph D Buxbaum
Identification of transcription factors and single nucleotide polymorphisms of Lrh1 and its homologous genes in Lrh1-knockout pancreas of mice
Maochun Tang, Li Cheng, Rongrong Jia, Lei Qiu, Hua Liu, Shu Zhou, Xiuying Ma, Guoyong Hu, Xingpeng Wang, Yan Zhao
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
Adila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, Anne John, Abeer Al Sayegh, Anuradha Ganesh, Maha Al-Awadi, Lamya Al-Anbouri, Lihadh Al-Gazali, Birgit Leitinger, Bassam R Ali
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
Claudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, Saverio Scianguetta, Teresa Giugliano, Giulio Piluso, Fulvio Della Ragione, Mario Cirillo, Giuseppe Mirone, Silverio Perrotta
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
Milena Crippa, Ilaria Bestetti, Mario Perotti, Chiara Castronovo, Silvia Tabano, Chiara Picinelli, Guido Grassi, Lidia Larizza, Angela Ida Pincelli, Palma Finelli
Associations between speech features and phenotypic severity in Treacher Collins syndrome
Pamela Åsten, Harriet Akre, Christina Persson
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1
Fiona Gee, Clare F Clubbs, Emma VA Raine, Louise N Reynard, John Loughlin
COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients
Carla M Kaneto, Patrícia SP Lima, Dalila L Zanette, Karen L Prata, João M Pina Neto, Francisco JA de Paula, Wilson A Silva Jr
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín
Molecular basis of DEL phenotype in the Chinese population
Juan Gu, Xue-Dong Wang, Chao-Peng Shao, Jun Wang, An-Yuan Sun, Li-Hua Huang, Zhao-Lin Pan
Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population
Xingang Zhang, Wei Li, Xinpeng Zhang, Liang Zhao, Xiaoli Zhang, Li Jiang, Yun Guo, Jin Zhang, Zaifu Liang, Xiaofei Wang
A replication study confirms the association of GWAS-identified SNPs at MICB and PLCE1in Thai patients with dengue shock syndrome
Tran Ngoc Dang, Izumi Naka, Areerat Sa-Ngasang, Surapee Anantapreecha, Sumalee Chanama, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Jintana Patarapotikul, Naoyuki Tsuchiya, Jun Ohashi
A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease
Nanyawan Rungroj, Choochai Nettuwakul, Nirinya Sudtachat, Oranud Praditsap, Nunghathai Sawasdee, Suchai Sritippayawan, Duangporn Chuawattana, Pa-thai Yenchitsomanus
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation
Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf, Christina Stecksén-Blicks
A large de novo9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma
Simona Frigerio, Vittoria Disciglio, Siranoush Manoukian, Bernard Peissel, Gabriella Della Torre, Andrea Maurichi, Paola Collini, Barbara Pasini, Giacomo Gotti, Andrea Ferrari, Licia Rivoltini, Maura Massimino, Monica Rodolfo
Apolipoprotein E gene ε4ε4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis
Yong Wang, Yan-Feng Zhou, Bing-Ying Zhao, Zheng-Yu Gu, Shou-Ling Li
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome
Stefano Stagi, Elisabetta Lapi, Maria Gabriella D’Avanzo, Giancarlo Perferi, Silvia Romano, Sabrina Giglio, Silvia Ricci, Chiara Azzari, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients
Felipe C Silva, Bianca CG Lisboa, Marcia CP Figueiredo, Giovana T Torrezan, Érika MM Santos, Ana C Krepischi, Benedito M Rossi, Maria I Achatz, Dirce M Carraro
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
Carlotta Maria Vaccari, Maria Victoria Romanini, Ilaria Musante, Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Michele Torre, Carmen Gloria Morovic, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
Structural variation and missense mutation in SBDSassociated with Shwachman-Diamond syndrome
Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, Nicholas J Neill, David R Murdock, Matthew Bainbridge, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Wan Ip, Robert Paul Guillerman, James R Lupski, Alison A Bertuch
Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions
Yun Kyoung Kim, Youngdoe Kim, Mi Yeong Hwang, Kazuro Shimokawa, Sungho Won, Norihiro Kato, Yasuharu Tabara, Mitsuhiro Yokota, Bok-Ghee Han, Jong Ho Lee, Bong-Jo Kim
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Xiaonan Du, Yu An, Lifei Yu, Renchao Liu, Yanrong Qin, Xiaohong Guo, Daokan Sun, Shuizhen Zhou, Bailin Wu, Yong-hui Jiang, Yi Wang
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome
Yasutaka Ueda, Rodrigo T Calado, Anna Norberg, Sachiko Kajigaya, Göran Roos, Eva Hellstrom-Lindberg, Neal S Young
The association of 9p21-3 locus with coronary atherosclerosis: a systematic review and meta-analysis
Muhammad S Munir, Zhen Wang, Fares Alahdab, Mark W Steffen, Patricia J Erwin, Iftikhar J Kullo, Mohammad Hassan Murad
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M Kalscheuer, Wafaa Shehata-Dieler, Thomas Haaf
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Penny J Norsworthy, Jana Vandrovcova, Ellen RA Thomas, Archie Campbell, Shona M Kerr, Jennifer Biggs, Laurence Game, Anne K Soutar, Blair H Smith, Anna F Dominiczak, David J Porteous, Andrew D Morris, Generation Scotland, Timothy J Aitman
Analysis of single-nucleotide polymorphisms (SNPs) in human CYP3A4 and CYP3A5 genes: potential implications for the metabolism of HIV drugs
Giulia Berno, Mauro Zaccarelli, Caterina Gori, Massimo Tempestilli, Andrea Antinori, Carlo Federico Perno, Leopoldo Paolo Pucillo, Roberta D’Arrigo
No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age
Rinki Murphy, John MD Thompson, Jörg Tost, Edwin A Mitchell
Association study of two inflammation-related polymorphisms with susceptibility to hepatocellular carcinoma: a meta-analysis
Jiajing Liu, Bo Xie, Shuilian Chen, Feng Jiang, Wei Meng
Alternative splicing in osteoclasts and Paget’s disease of bone
Roscoe Klinck, Gino Laberge, Martine Bisson, Stephen McManus, Laëtitia Michou, Jacques P Brown, Sophie Roux
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family
Xin-Yi Xia, Na Li, Xiang Cao, Qiu-Yue Wu, Tian-Fu Li, Cui Zhang, Wei-Wei Li, Ying-Xia Cui, Xiao-Jun Li, Chun-Yan Xue
Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity
Rihwa Choi, Kyoung Il Jo, Dae-Hyun Ko, Dong Hwan Lee, Junghan Song, Dong-Kyu Jin, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Yong-Wha Lee, Hyung-Doo Park
Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks
Xiaoli Chen, Jun Wang, Elyse Mitchell, Jin Guo, Liwen Wang, Yu Zhang, Jennelle C Hodge, Yiping Shen
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation
Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi
Identification of genes with altered expression in male and female Schlager hypertensive mice
Christine L Chiu, Kristy L Jackson, Nerissa L Hearn, Nicole Steiner, Geoffrey A Head, Joanne M Lind
Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
Aimee L Fenwick, Jacqueline AC Goos, Julia Rankin, Helen Lord, Tracy Lester, A Jeannette M Hoogeboom, Ans MW van den Ouweland, Steven A Wall, Irene MJ Mathijssen, Andrew OM Wilkie
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
Taciane Borsatto, Fernanda Sperb-Ludwig, Louise LC Pinto, Gisele R De Luca, Francisca L Carvalho, Carolina FM De Souza, Paula FV De Medeiros, Charles M Lourenço, Reinaldo LO Filho, Eurico C Neto, Pricila Bernardi, Sandra Leistner-Segal, Ida VD Schwartz
The relationship between diastolic blood pressure and coronary artery calcification is dependent on single nucleotide polymorphisms on chromosome 9p21.3
Daniel S Kim, Jennifer A Smith, Lawrence F Bielak, Chun-Yi Wu, Yan V Sun, Patrick F Sheedy, Stephen T Turner, Patricia A Peyser, Sharon LR Kardia
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya
Shivang S Shah, Alex Macharia, Johnstone Makale, Sophie Uyoga, Katja Kivinen, Rachel Craik, Christina Hubbart, Thomas E Wellems, Kirk A Rockett, Dominic P Kwiatkowski, Thomas N Williams
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
Richard D Bagnall, Laura K Molloy, Jonathan M Kalman, Christopher Semsarian
Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype
Yanliang Zhang, Yanhui Liu, Ya Li, Yong Duan, Keyun Zhang, Junwang Wang, Yong Dai
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia
Osama M Badeeb, Shazia Micheal, Robert K Koenekoop, Anneke I den Hollander, Manal T Hedrawi
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
Michael Volodarsky, Yshaia Langer, Ohad S Birk
Increased methylation at differentially methylated region of GNASin infants born to gestational diabetes
Danqing Chen, Aiping Zhang, Min Fang, Rong Fang, Jiamei Ge, Yuan Jiang, Hong Zhang, Cong Han, Xiaoqun Ye, Hefeng Huang, Yun Liu, Minyue Dong
Genetic polymorphisms at SIRT1 and FOXO1 are associated with carotid atherosclerosis in the SAPHIR cohort
Lyudmyla Kedenko, Claudia Lamina, Igor Kedenko, Barbara Kollerits, Tobias Kiesslich, Bernhard Iglseder, Florian Kronenberg, Bernhard Paulweber
Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways
Nyla Nazir, Khalid Siddiqui, Sara Al-Qasim, Dhekra Al-Naqeb
Detection of allele specific differences in IFNL3 (IL28B)mRNA expression
Susanne Knapp, Naeem Meghjee, Sorcha Cassidy, Khaleel Jamil, Mark Thursz
A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival
Fredrik Baecklund, Jia-Nee Foo, Paige Bracci, Hatef Darabi, Robert Karlsson, Henrik Hjalgrim, Richard Rosenquist, Hans-Olov Adami, Bengt Glimelius, Mads Melbye, Lucia Conde, Jianjun Liu, Keith Humphreys, Christine F Skibola, Karin E Smedby
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects
Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Denise M Kay, Marilyn L Browne, Emily C McGrath, Hatice Ozel Abaan, Marie Sutton, Peadar N Kirke, Michele Caggana, Barry Shane, John M Scott, Lawrence C Brody
Paraganglioma and pheochromocytoma upon maternal transmission of SDHDmutations
Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora PM Corssmit, Winand NM Dinjens, Ronald R de Krijger, Peter Devilee, Jeroen C Jansen, Frederik J Hes
A novel single base pair duplication in WDR62 causes primary microcephaly
Verena Rupp, Sobiah Rauf, Ishrat Naveed, Christian Windpassinger, Asif Mir
Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR
Vicki J Hwang, Dianna Maar, John Regan, Kathleen Angkustsiri, Tony J Simon, Flora Tassone
MiR-146a rs2910164 G/C polymorphism and gastric cancer susceptibility: a meta-analysis
Zhong Xu, Lingling Zhang, Hui Cao, Banjun Bai
Association of cholesteryl ester transfer protein (CETP) gene polymorphism, high density lipoprotein cholesterol and risk of coronary artery disease: a meta-analysis using a Mendelian randomization approach
Zhijun Wu, Yuqing Lou, Xiaochun Qiu, Yan Liu, Lin Lu, Qiujing Chen, Wei Jin
Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst
Waleed H Omer, Akira Narita, Kazuyoshi Hosomichi, Shigeki Mitsunaga, Yasuhiro Hayashi, Atsushi Yamashita, Avdyl Krasniqi, Yuri Iwasaki, Masami Kimura, Ituro Inoue
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
Dhanya Kumaran, Krishnan Balagopal, Reginald George Alex Tharmaraj, Sanjith Aaron, Kuryan George, Jayaprakash Muliyil, Ajith Sivadasan, Sumita Danda, Mathew Alexander, Gaiti Hasan
Fragile X protein in newborn dried blood spots
Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Michele Caggana, Veronica Wiley, Michael Field, Tiffany Wotton, Richard Kascsak, Sarah L Nolin, Anne Glicksman, Nicole Hosmer, W Ted Brown
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
Alicia Delicado, Luis Fernández, María Luisa de Torres, Julián Nevado, Fe Amalia García-Santiago, Roberto Rodríguez, Elena Mansilla, María Palomares, Fernando Santos-Simarro, Elena Vallespín, María Ángeles Mori, Pablo Lapunzina
A study of genes encoding cytokines (IL6, IL10, TNF), cytokine receptors (IL6R, IL6ST), and glucocorticoid receptor (NR3C1) and susceptibility to bronchopulmonary dysplasia
Johanna M Huusko, Minna K Karjalainen, Mari Mahlman, Ritva Haataja, M Anneli Kari, Sture Andersson, Gergely Toldi, Outi Tammela, Mika Rämet, Pascal M Lavoie, Mikko Hallman
Left ventricular diastolic function associated with common genetic variation in ATP12Ain a general population
Judita Knez, Erika Salvi, Valérie Tikhonoff, Katarzyna Stolarz-Skrzypek, Andrew Ryabikov, Lutgarde Thijs, Daniele Braga, Malgorzata Kloch-Badelek, Sofia Malyutina, Edoardo Casiglia, Danuta Czarnecka, Kalina Kawecka-Jaszcz, Daniele Cusi, Tim Nawrot, Jan A Staessen, Tatiana Kuznetsova
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review
Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Elena Reffo, Marina Venturini, Stefano Quinzani, Matteo Della Monica, Gioacchino Scarano, Giuseppe Santoro, Maria Giovanna Russo, Piergiacomo Calzavara-Pinton, Ornella Milanesi, Marina Colombi
The association of polymorphisms of TLR4 and CD14genes with susceptibility to sepsis in a Chinese population
Haiyan Wang, Yesheng Wei, Yi Zeng, Yueqiu Qin, Bin Xiong, Gang Qin, Jun Li, Donghai Hu, Xiaowen Qiu, Suren R Sooranna, Liao Pinhu
Erratum to: high-resolution SNP array analysis of patients with developmental disorder and normal array CGH result
Linda Siggberg, Sirpa Ala-Mello, Tarja Linnankivi, Kristiina Avela, Ilari Scheinin, Kati Kristiansson, Päivi Lahermo, Marja Hietala, Liisa Metsähonkala, Esa Kuusinen, Maarit Laaksonen, Janna Saarela, Sakari Knuutila
Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report
Shiyu Luo, Wen Huang, Qiuping Xia, Yan Xia, Qian Du, Lingqian Wu, Ranhui Duan
Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies
Chen Chen, Shenglan Yang, Sandip Chaugai, Yan Wang, Dao Wen Wang
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
Avinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, Wenjian Cao, Frank J Probst, Weihong Jin, Ping Fang, Krzysztof Gogolewski, Anna Gambin, Jaya K George-Abraham, Sailaja Golla, Francoise Boidein, Benedicte Duban-Bedu, Bruno Delobel, Joris Andrieux, Kerstin Becker, Elke Holinski-Feder, Sau Wai Cheung, Pawel Stankiewicz
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease
Rihwa Choi, Hayne Cho Park, Kyunghoon Lee, Myoung-Gun Lee, Jong-Won Kim, Chang-Seok Ki, Young-Hwan Hwang, Curie Ahn
Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p
Caroline Demily, Massimiliano Rossi, Gabrielle Chesnoy-Servanin, Brice Martin, Alice Poisson, Damien Sanlaville, Patrick Edery
PCR amplification of a triple-repeat genetic target directly from whole blood in 15 minutes as a proof-of-principle PCR study for direct sample analysis for a clinically relevant target
Christopher M Connelly, Laura R Porter, Joel R TerMaat
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease – a multicenter study
Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson, Henrik Zetterberg
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
Muhammad Jameel, Joakim Klar, Muhammad Tariq, Abubakar Moawia, Naveed Altaf Malik, Syeda Seema Waseem, Uzma Abdullah, Tahir Naeem Khan, Raili Raininko, Shahid Mahmood Baig, Niklas Dahl
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, Isaac S Kohane, Joel Krier, William J Lane, Denise Lautenbach, Matthew S Lebo, Kalotina Machini, Calum A MacRae, Danielle R Azzariti, Michael F Murray, Christine E Seidman, Jason L Vassy, Robert C Green, Heidi L Rehm
Associations between variants on ADIPOQ and ADIPOR1 with colorectal cancer risk: a chinese case-control study and updated meta-analysis
Yiyi Ou, Peizhan Chen, Ziyuan Zhou, Chenglin Li, Jinyi Liu, Kazuo Tajima, Junsheng Guo, Jia Cao, Hui Wang
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report
Hanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, Abdulrahman A Muhsin, Stylianos E Antonarakis
Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies
Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José-Mario Capo-Chichi, Brigitte Delemer, Aurelio Balsalobre, Christina Nassif, Dimitris T Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre-François Souchon, Shinobu Takayasu, Alain Enjalbert, Guy Van Vliet, Jacek Majewski, Jacques Drouin, Mark E Samuels
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation
Xiao Liu, Zhaoxia Wang, Weina Jin, He Lv, Wei Zhang, Chengli Que, Yu Huang, Yun Yuan
Duplication 9p and their implication to phenotype
Roberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, Ana Luiza Pilla, Marco Antonio Paula de Ramos, Anelisa Gollo Dantas, Sylvia Satomi Takeno, Leslie Domenici Kulikowski, Maria Isabel Melaragno
The impact of coronary artery disease risk loci on ischemic heart failure severity and prognosis: association analysis in the COntrolled ROsuvastatin multiNAtional trial in heart failure (CORONA)
Vincent G Haver, Niek Verweij, John Kjekshus, Jayne C Fox, Hans Wedel, John Wikstrand, Wiek H van Gilst, Rudolf A de Boer, Dirk J van Veldhuisen, Pim van der Harst
Protective variant associated with alcohol dependence in a Mexican American cohort
Trina M Norden-Krichmar, Ian R Gizer, Kirk C Wilhelmsen, Nicholas J Schork, Cindy L Ehlers
Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression
Luis Alberto Henríquez-Hernández, Almudena Valenciano, Palmira Foro-Arnalot, María Jesús Álvarez-Cubero, José Manuel Cozar, José Francisco Suárez-Novo, Manel Castells-Esteve, Pablo Fernández-Gonzalo, Belén De-Paula-Carranza, Montse Ferrer, Ferrán Guedea, Gemma Sancho-Pardo, Jordi Craven-Bartle, María José Ortiz-Gordillo, Patricia Cabrera-Roldán, Estefanía Herrera-Ramos, Carlos Rodríguez-Gallego, Juan Ignacio Rodríguez-Melcón, Pedro C Lara
The chromosome 9p21 variant interacts with vegetable and wine intake to influence the risk of cardiovascular disease: a population based cohort study
George Hindy, Ulrika Ericson, Viktor Hamrefors, Isabel Drake, Elisabet Wirfält, Olle Melander, Marju Orho-Melander
Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGlngenes
Yuqi Liu, Yang Li, Jinliao Gao, Chao Zhu, Yunfeng Lan, Jie Yang, Zongbin Li, Minxin Guan, Yundai Chen
Genetic similarities between tobacco use disorder and related comorbidities: an exploratory study
Sylviane de Viron, Servaas A Morré, Herman Van Oyen, Angela Brand, Sander Ouburg
Association between genetic polymorphisms of cytochrome P450 2C19 and the risk of cerebral ischemic stroke in Chinese
Shuzhen Gu, Yan Sun, Ruifa Han, Lin Wang, Dongliang Wang, Jizuo Wang, Xin Li
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
Hasan Dogan, Fatih Akdemir, Sener Tasdemir, Omer Atis, Eda Diyarbakir, Rahsan Yildirim, Mucahit Emet, Mevlit Ikbal
Genetic analysis of an allergic rhinitis cohort reveals an intercellular epistasis between FAM134B and CD39
Rossella Melchiotti, Kia Joo Puan, Anand Kumar Andiappan, Tuang Yeow Poh, Mireille Starke, Li Zhuang, Kerstin Petsch, Tuck Siong Lai, Fook Tim Chew, Anis Larbi, De Yun Wang, Michael Poidinger, Olaf Rotzschke
Novel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
Yue-Juan Xu, Sun Chen, Jian Zhang, Shao-Hai Fang, Qian-Qian Guo, Jian Wang, Qi-Hua Fu, Fen Li, Rang Xu, Kun Sun
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
Qi Liu, Zhen Wang, Yuhong Wu, Lihua Cao, Qingzhu Tang, Xuesha Xing, Hongwei Ma, Shifa Zhang, Yang Luo
Whole exome sequencing identifies a novel EMDmutation in a Chinese family with dilated cardiomyopathy
Mingqiu Zhang, Jia Chen, Dayong Si, Yu Zheng, Haixu Jiao, Zhaohui Feng, Zhengmao Hu, Ranhui Duan
Meta-analysis of differentially expressed genes in osteosarcoma based on gene expression data
Zuozhang Yang, Yongbin Chen, Yu Fu, Yihao Yang, Ya Zhang, Yanjin Chen, Dongqi Li
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)
Ying Qiao, Eloi Mercier, Jila Dastan, Jane Hurlburt, Barbara McGillivray, Albert E Chudley, Sandra Farrell, Francois P Bernier, ME Suzanne Lewis, Paul Pavlidis, Evica Rajcan-Separovic
Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay
Megan L Weber, Hong-Yuan Hsin, Ersan Kalay, Dana Š Brožková, Takehiko Shimizu, Merve Bayram, Kathleen Deeley, Erika C Küchler, Jessalyn Forella, Timothy D Ruff, Vanessa M Trombetta, Regina C Sencak, Michael Hummel, Jessica Briseño-Ruiz, Shankar K Revu, José M Granjeiro, Leonardo S Antunes, Livia A Antunes, Fernanda V Abreu, Marcelo C Costa, Patricia N Tannure, Mine Koruyucu, Asli Patir, Fernando A Poletta, Juan C Mereb, Eduardo E Castilla, Iêda M Orioli, Mary L Marazita, Hongjiao Ouyang, Thottala Jayaraman, Figen Seymen, Alexandre R Vieira
CHI3L1polymorphisms associate with asthma in a Taiwanese population
Yishan Tsai, Yingchin Ko, Mingshyan Huang, Mengchih Lin, Chaochien Wu, Chinchou Wang, Yunxuan Chen, Jianing Li, Yuting Tseng, Tsunai Wang
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn, Liborio Stuppia
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies
Annette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, Anne Cecile Hellin, Mauricette Jamar, Vinciane Dideberg, Emmanuel K Rusingiza, Vincent Bours, Leon Mutesa
Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration
Nauzer Forbes, Susan Goodwin, Kevin Woodward, David G Morgan, Lauren Brady, Michael B Coulthart, Mark A Tarnopolsky
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
Daniel S Lieber, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims, Jeremy D Schmahmann, Vamsi K Mootha
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter
Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel quintão Roque, Bruno Giardina, Daniela Tavian
A replication study of GWAS findings in migraine identifies association in a Swedish case–control sample
Caroline Ran, Lisette Graae, Patrik KE Magnusson, Nancy L Pedersen, Lars Olson, Andrea C Belin
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo, Soo Kyung Koo
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)
Sebastian Fröhler, Moritz Kieslich, Claudia Langnick, Mirjam Feldkamp, Bernd Opgen-Rhein, Felix Berger, Joachim C Will, Wei Chen
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia F O’Lague, Nicole Mans, Joshua L Deignan, Eric Vilain, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile
Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, Seyed Mohammad Akrami, Alexandre Reymond
Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention
Jan M Hodgson, Sylvia A Metcalfe, MaryAnne Aitken, Susan M Donath, Clara L Gaff, Ingrid M Winship, Martin B Delatycki, Loane LC Skene, Belinda J McClaren, Jean L Paul, Jane L Halliday