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Showing results for ISSN matching 1471-2350

First molecular screening of deafness in the Altai Republic population

JOURNAL ARTICLE published December 2005 in BMC Medical Genetics

Authors: Olga Posukh | Nathalie Pallares-Ruiz | Vera Tadinova | Ludmila Osipova | Mireille Claustres | Anne-Françoise Roux

https://doi.org/10.1186/1471-2350-6-12 Actions

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients

JOURNAL ARTICLE published December 2002 in BMC Medical Genetics

Authors: Dominique P Germain | Paul Avan | Augustin Chassaing | Pierre Bonfils

https://doi.org/10.1186/1471-2350-3-10 Actions

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

JOURNAL ARTICLE published December 2017 in BMC Medical Genetics

Research funded by State Key Clinical Specialty Construction Project (2012.98) | National Natural Science Foundation of China (81671068)

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

https://doi.org/10.1186/s12881-017-0424-5 Actions

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Authors: Teresa Sprovieri | Carmine Ungaro | Serena Sivo | Michela Quintiliani | Ilaria Contaldo | Chiara Veredice | Luigi Citrigno | Maria Muglia | Francesca Cavalcanti | Sebastiano Cavallaro | Eugenio Mercuri | Domenica Battaglia

https://doi.org/10.1186/s12881-019-0779-x Actions

SOD2polymorphisms: unmasking the effect of polymorphism on splicing

JOURNAL ARTICLE published December 2007 in BMC Medical Genetics

Authors: Jing Shao | Lishan Chen | Brian Marrs | Lin Lee | Hai Huang | Kenneth G Manton | George M Martin | Junko Oshima

https://doi.org/10.1186/1471-2350-8-7 Actions

SCN5Aallelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr

JOURNAL ARTICLE published December 2010 in BMC Medical Genetics

Authors: Stacy AS Killen | Jennifer Kunic | Lily Wang | Adele Lewis | Bruce P Levy | Michael J Ackerman | Alfred L George

https://doi.org/10.1186/1471-2350-11-74 Actions

Paraoxonase gene polymorphisms and haplotype analysis in a stroke population

JOURNAL ARTICLE published December 2006 in BMC Medical Genetics

Authors: Alireza Pasdar | Helen Ross-Adams | Alastair Cumming | John Cheung | Lawrence Whalley | David St Clair | Mary-Joan MacLeod

https://doi.org/10.1186/1471-2350-7-28 Actions

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

JOURNAL ARTICLE published December 2007 in BMC Medical Genetics

Authors: Ritesh Kaushal | Daniel Woo | Prodipto Pal | Mary Haverbusch | Huifeng Xi | Charles Moomaw | Padmini Sekar | Brett Kissela | Dawn Kleindorfer | Matthew Flaherty | Laura Sauerbeck | Ranajit Chakraborty | Joseph Broderick | Ranjan Deka

https://doi.org/10.1186/1471-2350-8-49 Actions

Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics

JOURNAL ARTICLE published December 2011 in BMC Medical Genetics

Authors: Michael Feehan | John Hartman | Richard Durante | Margaux A Morrison | Joan W Miller | Ivana K Kim | Margaret M DeAngelis

https://doi.org/10.1186/1471-2350-12-83 Actions

Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23

JOURNAL ARTICLE published December 2012 in BMC Medical Genetics

Authors: Jianhua Zhao | Sandra Deliard | Ali Rahim Aziz | Struan FA Grant

https://doi.org/10.1186/1471-2350-13-89 Actions

Altered miRNA expression in pulmonary sarcoidosis

JOURNAL ARTICLE published December 2016 in BMC Medical Genetics

Authors: 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

https://doi.org/10.1186/s12881-016-0266-6 Actions

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

JOURNAL ARTICLE published December 2017 in BMC Medical Genetics

Research funded by Italian Ministry of University and Research (Grant PON03PE_00146_1 2007/2013 (BIBIOFAR)) | Regione Campania (Grant POR Campania FSE 2007/2013 (CAMPUS-Bioframe))

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

https://doi.org/10.1186/s12881-017-0372-0 Actions

Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes

JOURNAL ARTICLE published December 2004 in BMC Medical Genetics

Authors: Connie E Byrne | Anthony Fitzgerald | Christopher P Cannon | Desmond J Fitzgerald | Denis C Shields

https://doi.org/10.1186/1471-2350-5-13 Actions

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

JOURNAL ARTICLE published December 2017 in BMC Medical Genetics

Research funded by National Natural Science Foundation of China (31271343,31471190,31671317)

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

https://doi.org/10.1186/s12881-017-0406-7 Actions

Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration

JOURNAL ARTICLE published December 2014 in BMC Medical Genetics

Authors: Nauzer Forbes | Susan Goodwin | Kevin Woodward | David G Morgan | Lauren Brady | Michael B Coulthart | Mark A Tarnopolsky

https://doi.org/10.1186/1471-2350-15-22 Actions

RNASET2 tag SNP but not CCR6 polymorphisms is associated with autoimmune thyroid diseases in the Chinese Han population

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Xiao-jun Chen | Xiao-hua Gong | Ni Yan | Shuai Meng | Qiu Qin | Yan-Fei Jiang | Hai-Yan Zheng | Jin-an Zhang

https://doi.org/10.1186/s12881-015-0150-9 Actions

Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes

JOURNAL ARTICLE published December 2011 in BMC Medical Genetics

Authors: Nancy E Lange | Xiaobo Zhou | Jessica Lasky-Su | Blanca E Himes | Ross Lazarus | Manuel Soto-Quirós | Lydiana Avila | Juan C Celedón | Catherine M Hawrylowicz | Benjamin A Raby | Augusto A Litonjua

https://doi.org/10.1186/1471-2350-12-26 Actions

Vitamin D3 treatment differentially affects anxiety-like behavior in the old ovariectomized female rats and old ovariectomized female rats treated with low dose of 17β-estradiol

JOURNAL ARTICLE published April 2019 in BMC Medical Genetics

Authors: Julia O. Fedotova

https://doi.org/10.1186/s12881-019-0774-2 Actions

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Authors: Shazia Khan | Lettie E. Rawlins | Gaurav V. Harlalka | Muhammad Umair | Asmat Ullah | Shaheen Shahzad | Muhammad Javed | Emma L. Baple | Andrew H. Crosby | Wasim Ahmad | Asma Gul

https://doi.org/10.1186/s12881-019-0907-7 Actions

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

JOURNAL ARTICLE published December 2004 in BMC Medical Genetics

Authors: Wanna Thongnoppakhun | Chanin Limwongse | Kriengsak Vareesangthip | Chintana Sirinavin | Duangkamon Bunditworapoom | Nanyawan Rungroj | Pa-thai Yenchitsomanus

https://doi.org/10.1186/1471-2350-5-2 Actions
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