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  1. Content type: Research article

    Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failur...

    Authors: Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva and Alessandra Rossini

    Citation: BMC Medical Genetics 2017 18:145

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  2. Content type: Case report

    Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or bi...

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

    Citation: BMC Medical Genetics 2017 18:144

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  3. Content type: Case report

    ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoraci...

    Authors: Kylie Cooper and Stephen Brown

    Citation: BMC Medical Genetics 2017 18:143

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  4. Content type: Research article

    Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in t...

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

    Citation: BMC Medical Genetics 2017 18:142

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  5. Content type: Case report

    Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important ...

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

    Citation: BMC Medical Genetics 2017 18:141

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  6. Content type: Research article

    Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleot...

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

    Citation: BMC Medical Genetics 2017 18:140

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  7. Content type: Research article

    It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patien...

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

    Citation: BMC Medical Genetics 2017 18:139

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  8. Content type: Case report

    Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is...

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

    Citation: BMC Medical Genetics 2017 18:137

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  9. Content type: Case report

    Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP

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

    Citation: BMC Medical Genetics 2017 18:135

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  10. Content type: Research article

    Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide ...

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

    Citation: BMC Medical Genetics 2017 18:138

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  11. Content type: Case report

    Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesit...

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

    Citation: BMC Medical Genetics 2017 18:134

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  12. Content type: Research article

    Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget’s disease of bone (PDB) a rare...

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

    Citation: BMC Medical Genetics 2017 18:133

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  13. Content type: Case report

    Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk o...

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

    Citation: BMC Medical Genetics 2017 18:130

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  14. Content type: Research article

    Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study ...

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

    Citation: BMC Medical Genetics 2017 18:132

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  15. Content type: Case report

    Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant m...

    Authors: Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson…

    Citation: BMC Medical Genetics 2017 18:129

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  16. Content type: Research article

    Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells b...

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

    Citation: BMC Medical Genetics 2017 18:128

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  17. Content type: Research article

    Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression ...

    Authors: Jinqiao Sun, Min Wen, Ying Wang, Danru Liu, Wenjing Ying and Xiaochuan Wang

    Citation: BMC Medical Genetics 2017 18:127

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  18. Content type: Research article

    Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by u...

    Authors: Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang and Tingting Yu

    Citation: BMC Medical Genetics 2017 18:126

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  19. Content type: Case report

    Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not re...

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

    Citation: BMC Medical Genetics 2017 18:125

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  20. Content type: Case report

    Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes...

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

    Citation: BMC Medical Genetics 2017 18:124

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  21. Content type: Research article

    The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer.

    Authors: Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo…

    Citation: BMC Medical Genetics 2017 18:122

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  22. Content type: Research article

    Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. However, the results remain inconsistent and ...

    Authors: Xing-ling Qi, Jun Yao and Yong Zhang

    Citation: BMC Medical Genetics 2017 18:123

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  23. Content type: Case report

    Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the

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

    Citation: BMC Medical Genetics 2017 18:121

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