Ausgabe 1/2016
Inhalt (95 Artikel)
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron
Altered miRNA expression in pulmonary sarcoidosis
Justyna Kiszałkiewicz, Wojciech J. Piotrowski, Dorota Pastuszak-Lewandoska, Paweł Górski, Adam Antczak, Witold Górski, Daria Domańska-Senderowska, Monika Migdalska-Sęk, Karolina H. Czarnecka, Ewa Nawrot, Ewa Brzeziańska-Lasota
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
Zuhair N. Al-Hassnan, Zarghuna MA. Shinwari, Salma M. Wakil, Sahar Tulbah, Shamayel Mohammed, Zuhair Rahbeeni, Mohammed Alghamdi, Monther Rababh, Dilek Colak, Namik Kaya, Majid Al-Fayyadh, Jehad Alburaiki
Integrative meta-analysis identifies microRNA-regulated networks in infantile hemangioma
Natália Bertoni, Lied M. S. Pereira, Fábio E. Severino, Regina Moura, Winston B. Yoshida, Patricia P. Reis
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report
Clara Vazquez-Alfageme, Roberto Reinoso, Alberto Acedo, Rosa M. Coco
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans
Nari Ryu, Borum Sagong, Hong-Joon Park, Min-A Kim, Kyu-Yup Lee, Jae Young Choi, Un-Kyung Kim
Association of common variants identified by recent genome-wide association studies with obesity in Chinese children: a case-control study
Hai-Jun Wang, Anke Hinney, Jie-Yun Song, André Scherag, Xiang-Rui Meng, Harald Grallert, Thomas Illig, Johannes Hebebrand, Yan Wang, Jun Ma
Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment
Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla, Angela La Neve, Pasquale Striano, Sonja C. Vernes
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study
Wei Wen, Dan Yin, Fangfang Huang, Meng Guo, Tian Tian, Hui Zhu, Yun Yang
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy
Giulia Cini, Massimo Mezzavilla, Lara Della Puppa, Elisa Cupelli, Alessio Fornasin, Angela Valentina D’Elia, Riccardo Dolcetti, Giuseppe Damante, Sara Bertok, Gianmaria Miolo, Roberta Maestro, Paolo de Paoli, Antonio Amoroso, Alessandra Viel
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal, Wasim Ahmad
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene
Guolong Zhang, Minhua Shao, Zhixiu Li, Yong Gu, Xufeng Du, Xiuli Wang, Ming Li
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud
Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
Axel Weber, Jonas Kreth, Ulrich Müller
Placental PHLDA2 expression is increased in cases of fetal growth restriction following reduced fetal movements
Anna Bugge Janssen, Simon J. Tunster, Alexander E. P. Heazell, Rosalind M. John
Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report
Valeria Guglielmi, Roberto Floris, Monica D’Adamo, Francesco Garaci, Giuseppe Novelli, Paolo Sbraccia
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Orazio Gabrielli, Lorne A. Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi, Giovanni V. Coppa
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann, Thomas Eggermann
Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system
Nilima Biswas, Adam X. Maihofer, Saiful Anam Mir, Fangwen Rao, Kuixing Zhang, Srikrishna Khandrika, Manjula Mahata, Ryan S. Friese, C. Makena Hightower, Sushil K. Mahata, Dewleen G. Baker, Caroline M. Nievergelt, Sucheta M. Vaingankar, Daniel T. O’Connor
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development
Yanling Dong, Yuting Yi, Hong Yao, Ziying Yang, Huamei Hu, Jiucheng Liu, Changxin Gao, Ming Zhang, Liying Zhou, Asan, Xin Yi, Zhiqing Liang
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility
Terri H. Finkel, Jin Li, Zhi Wei, Wei Wang, Haitao Zhang, Edward M. Behrens, Emma L. Reuschel, Sophie Limou, Carol Wise, Marilynn Punaro, Mara L. Becker, Jane E. Munro, Berit Flatø, Øystein Førre, Susan D. Thompson, Carl D. Langefeld, David N. Glass, Joseph T. Glessner, Cecilia E. Kim, Edward Frackelton, Debra K. Shivers, Kelly A. Thomas, Rosetta M. Chiavacci, Cuiping Hou, Kexiang Xu, James Snyder, Haijun Qiu, Frank Mentch, Kai Wang, Cheryl A. Winkler, Benedicte A. Lie, Justine A. Ellis, Hakon Hakonarson
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report
Guja Astrea, Antonio Petrucci, Denise Cassandrini, Marco Savarese, Rosanna Trovato, Ludovico Lispi, Anna Rubegni, Manlio Giacanelli, Roberto Massa, Vincenzo Nigro, Filippo M. Santorelli
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci
Hamid Reza Saadati, Michael Wittig, Ingo Helbig, Robert Häsler, Carl A. Anderson, Christopher G. Mathew, Limas Kupcinskas, Miles Parkes, Tom Hemming Karlsen, Philip Rosenstiel, Stefan Schreiber, Andre Franke
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Katta Mohan Girisha, Abdul Mueed Bidchol, Luitgard Graul-Neumann, Ashish Gupta, Ute Hehr, Davor Lessel, Sean Nader, Hitesh Shah, Julia Wickert, Kerstin Kutsche
Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study
Rubika Balendra, James Uphill, Claire Collinson, Ronald Druyeh, Gary Adamson, Holger Hummerich, Inga Zerr, Pierluigi Gambetti, John Collinge, Simon Mead
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
Mads Bak, Susanne E. Boonen, Christina Dahl, Johanne M. D. Hahnemann, Deborah J. D. G. Mackay, Zeynep Tümer, Karen Grønskov, I. Karen Temple, Per Guldberg, Niels Tommerup
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
Emmanuelle Souzeau, Kathryn P. Burdon, Bronwyn Ridge, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig
Common variants in SIRT1 and human longevity in a Chinese population
Rong Lin, Dongjing Yan, Yunxia Zhang, Xiaoping Liao, Gu Gong, Junjie Hu, Yunxin Fu, Wangwei Cai
Neonatal diabetes and protein losing enteropathy: a case report
Tamara McMillan, Rose Girgis, Elizabeth A. C. Sellers
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude, Louise Hartley, Gareth Thomas, Catharine White, Jaya Natarajan, Rhys H. Thomas, Cheney Drew, Seo-Kyung Chung, Mark I. Rees, Peter Holmans, Michael J. Owen, George Kirov, Daniela T. Pilz, Michael P. Kerr
CNV analysis in 169 patients with bladder exstrophy-epispadias complex
Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen, Heiko Reutter, Michael Ludwig, Markus Draaken
Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3
Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka, Dirk Muller-Wieland
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante, Ana Belén Elgoyhen
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
Carla M. Kaneto, Patrícia S. P. Lima, Dalila Lucíola Zanette, Thiago Yukio Kikuchi Oliveira, Francisco de Assis Pereira, Julio Cesar Cetrulo Lorenzi, Jane Lima dos Santos, Karen L. Prata, João M. Pina Neto, Francisco J. A. de Paula, Wilson A. Silva Jr.
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
Daniel F. Garcia, José S. Camelo Jr, Greice A. Molfetta, Marlene Turcato, Carolina F. M. Souza, Gilda Porta, Carlos E. Steiner, Wilson A. Silva Jr
Impact of CYP2E1, GSTA1 and GSTP1 gene variants on serum alpha glutathione S-transferase level in patients undergoing anaesthesia
Adam Mikstacki, Marzena Skrzypczak-Zielinska, Oliwia Zakerska-Banaszak, Barbara Tamowicz, Maria Skibinska, Marta Molinska-Glura, Marlena Szalata, Ryszard Slomski
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry
Rogério Marins Alves, Sueli Matilde da Silva Costa, Paulo Mauricio do Amôr Divino Miranda, Priscila Zonzini Ramos, Thiago Gibbin Marconi, Gisele Santos Oliveira, Arthur Menino Castilho, Edi Lúcia Sartorato
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M. Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V. Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu, Francesco M. Marincola, Daniel MacArthur, Lotfi Chouchane
Association of BAK1 single nucleotide polymorphism with a risk for dengue hemorrhagic fever
Tran Ngoc Dang, Izumi Naka, Areerat Sa-Ngasang, Surapee Anantapreecha, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Jintana Patarapotikul, Naoyuki Tsuchiya, Jun Ohashi
Analysis of copy number variation at DMBT1 and age-related macular degeneration
Shamik Polley, Valentina Cipriani, Jane C. Khan, Humma Shahid, Anthony T. Moore, John R. W. Yates, Edward J. Hollox
Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm
Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu, Tucheng Sun
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
Daniel Oder, Dorothee Vergho, Georg Ertl, Christoph Wanner, Peter Nordbeck
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, Dennis S. Rice, Arnaud Lacoste, Kim Paes, Michèle Ramsay
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park, Moon-Woo Seong
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study
Hui Yao, Chuanchun Yang, Xiaoli Huang, Luhong Yang, Wei Zhao, Dan Yin, Yuan Qin, Feng Mu, Lin Liu, Ping Tian, Zhisheng Liu, Yun Yang
Genotyping an immunodeficiency causing c.1624–11G>A ZAP70 mutation in Canadian Mennonites
M. L. Schroeder, B. Triggs-Raine, T. Zelinski
Association study of C-reactive protein associated gene HNF1A with ischemic stroke in Chinese population
Haibin Shi, Song Leng, Hui Liang, Yan Zheng, Lidian Chen
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon, Eyal Banin, Eyal Walter, Tova Lifshitz, Ohad S. Birk
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
Loai Elsaadany, Mahmoud El-Said, Rehab Ali, Hussein Kamel, Tawfeg Ben-Omran
TAS2R38 taste receptor gene and chronic rhinosinusitis: new data from an Italian population
Stefania Gallo, Sarah Grossi, Giulia Montrasio, Giorgio Binelli, Raffaella Cinquetti, Daniel Simmen, Paolo Castelnuovo, Paola Campomenosi
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
Mirella Meregalli, Simona Maciotta, Valentina Angeloni, Yvan Torrente
Acyl-CoA synthetase long-chain 5 genotype is associated with body composition changes in response to lifestyle interventions in postmenopausal women with overweight and obesity: a genetic association study on cohorts Montréal-Ottawa New Emerging Team, and Complications Associated with Obesity
Abishankari Rajkumar, Gilles Lamothe, Pierrette Bolongo, Mary-Ellen Harper, Kristi Adamo, Éric Doucet, Remi Rabasa-Lhoret, Denis Prud’homme, Frédérique Tesson
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand, Ohad S. Birk
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population
Hsiu-Huei Peng, Nai-Chung Chang, Kuo-Ting Chen, Jang-Jih Lu, Pi-Yueh Chang, Shih-Cheng Chang, Yah-Huei Wu-Chou, Yi-Ting Chou, Wanni Phang, Po-Jen Cheng
HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer
Alexia L. Weeks, Scott G. Wilson, Lynley Ward, Jack Goldblatt, Jennie Hui, John P. Walsh
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen, Bo Carlberg
PDGF-D gene polymorphism is associated with increased cardiovascular mortality in elderly men
Urban Alehagen, Renate S. Olsen, Toste Länne, Andreas Matussek, Dick Wågsäter
The role of mitochondrial genomics in patients with non-alcoholic steatohepatitis (NASH)
Rohini Mehta, Kianoush Jeiran, Aaron B. Koenig, Munkzhul Otgonsuren, Zachary Goodman, Ancha Baranova, Zobair Younossi
Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract
Hannah Happ, Eric Weh, Deborah Costakos, Linda M. Reis, Elena V. Semina
Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR
Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli
Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden
Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson, Sofia Mayans
Association between global leukocyte DNA methylation and cardiovascular risk in postmenopausal women
Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana, Poli Mara Spritzer
No association between TGF-β1 polymorphisms and risk of nasopharyngeal carcinoma in a large North African case-control study
Wafa Khaali, Khalid Moumad, El Khalil Ben Driss, Abdellatif Benider, Wided Ben Ayoub, Mokhtar Hamdi-Cherif, Kada Boualga, Elham Hassen, Marilys Corbex, Meriem Khyatti
Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin
Johannes Münch, Maik Grohmann, Tom H. Lindner, Carsten Bergmann, Jan Halbritter
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D’Angelo
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR)
Andrew Turner, Jurgen Sasse, Aniko Varadi
Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report
Yosep Chong, Minyoung Kim, Eun Sil Koh, Seok Joon Shin, Ho-Shik Kim, Sungjin Chung
Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang, Lingqian Wu
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M. E. Suzanne Lewis
A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis
Samantha Johnston, Donald Staines, Anne Klein, Sonya Marshall-Gradisnik
Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A
Murray Cadzow, Tony R. Merriman, James Boocock, Nicola Dalbeth, Lisa K. Stamp, Michael A. Black, Peter M. Visscher, Phillip L. Wilcox
Clinical utility of array comparative genomic hybridisation in prenatal setting
Luca Lovrecic, Ziga Iztok Remec, Marija Volk, Gorazd Rudolf, Karin Writzl, Borut Peterlin
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
Sharon Aharoni, Katy E. S. Barwick, Rachel Straussberg, Gaurav V. Harlalka, Yoram Nevo, Barry A. Chioza, Meriel M. McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H. Crosby
Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families
Alan Hanley, Katie A. Walsh, Caroline Joyce, Michael A. McLellan, Sebastian Clauss, Amaya Hagen, Marisa A. Shea, Nathan R. Tucker, Honghuang Lin, Gerard J. Fahy, Patrick T. Ellinor
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M. Marincola, Khalid A. Fakhro, Chiara Cugno
Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I. Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily Farrow
Effect of Pregnane X Receptor*1B genetic polymorphisms on postoperative analgesia with fentanyl in Chinese patients undergoing gynecological surgery
Jing-Jing Yuan, Xiao-Jing Ma, Zhi-Song Li, Yan-Zi Chang, Wei Zhang, Quan-Cheng Kan, Jun-Kai Hou, Li-Rong Zhang
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
Birgitta Bergendal, Johanna Norderyd, Xiaolei Zhou, Joakim Klar, Niklas Dahl
Assessment of copy number variations in 120 patients with Poland syndrome
Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
Physical activity and sedentary behavior can modulate the effect of the PNPLA3 variant on childhood NAFLD: a case-control study in a Chinese population
Shuo Wang, Jieyun Song, Xiaorui Shang, Nitesh Chawla, Yide Yang, Xiangrui Meng, Haijun Wang, Jun Ma
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li
microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART
Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay, Anil Amichund Chuturgoon
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
Patrick R. Blackburn, Michael T. Zimmermann, Jennifer M. Gass, Kimberly G. Harris, Margot A. Cousin, Nicole J. Boczek, Owen A. Ross, Eric W. Klee, Paul W. Brazis, Jay A. Van Gerpen, Paldeep S. Atwal
Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report
Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa, Hideaki Yano
A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease
Tingyu Chen, Qianliao Wang, Guisen Li, Li Wang
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
Sacral agenesis: a pilot whole exome sequencing and copy number study
Robert M. Porsch, Elisa Merello, Patrizia De Marco, Guo Cheng, Laura Rodriguez, Manting So, Pak C. Sham, Paul K. Tam, Valeria Capra, Stacey S. Cherny, Maria-Mercè Garcia-Barcelo, Desmond D. Campbell