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  1. Technical advance

    A simple, fast and inexpensive method for mutation scanning of CFTR gene

    Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple...

    Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González and Teresa Collazo Mesa

    BMC Medical Genetics 2017 18:58

    Published on: 25 May 2017

  2. Case report

    Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

    Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

    Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley and Harry Heimberg

    BMC Medical Genetics 2017 18:57

    Published on: 19 May 2017

  3. Research article

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

    The etiology of the Graves’ disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two n...

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

    BMC Medical Genetics 2017 18:56

    Published on: 18 May 2017

  4. Research article

    A case–control study of selenoprotein genes polymorphisms and autoimmune thyroid diseases in a Chinese population

    Selenium is an essential trace and there is a high selenium concentration in the thyroid gland. Selenium deficiency may impair the thyroid function. The aim of this study was to investigate the association bet...

    Ling Xiao, Jianghong Yuan, Qiuming Yao, Ni Yan, Ronghua Song, Wenjuan Jiang, Danfeng Li, Liangfeng Shi and Jin-an Zhang

    BMC Medical Genetics 2017 18:54

    Published on: 12 May 2017

  5. Research article

    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

    Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL ...

    Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck and Roman-Ulrich Müller

    BMC Medical Genetics 2017 18:53

    Published on: 12 May 2017

  6. Research article

    Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

    Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son.

    Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau and Kathryn P. Burdon

    BMC Medical Genetics 2017 18:52

    Published on: 8 May 2017

  7. Research article

    Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

    Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NP...

    Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis and Argyrios Dinopoulos

    BMC Medical Genetics 2017 18:51

    Published on: 4 May 2017

  8. Case report

    A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

    Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fev...

    Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad and Mohammad Ali Faghihi

    BMC Medical Genetics 2017 18:49

    Published on: 3 May 2017

  9. Research article

    Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population

    The aim of this study was to explore whether interactions between FTO rs9939609 and ABCA1 rs9282541 affect BMI and waist circumference (WC), and could explain previously reported population differences in FTO-obe...

    Marisela Villalobos-Comparán, Bárbara Antuna-Puente, María Teresa Villarreal-Molina, Samuel Canizales-Quinteros, Rafael Velázquez-Cruz, Paola León-Mimila, Hugo Villamil-Ramírez, Juan Antonio González-Barrios, José Luis Merino-García, María Rocío Thompson-Bonilla, Diego Jarquin, Osvaldo Erik Sánchez-Hernández, Martha Eunice Rodríguez-Arellano, Carlos Posadas-Romero, Gilberto Vargas-Alarcón, Francisco Campos-Pérez…

    BMC Medical Genetics 2017 18:46

    Published on: 2 May 2017

  10. Case report

    Severe congenital microcephaly with AP4M1 mutation, a case report

    Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally ...

    Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

    BMC Medical Genetics 2017 18:48

    Published on: 2 May 2017

  11. Research article

    Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment

    Egr4 is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of Egr4 blocks spermatogen...

    Se Ra Sung, Seung Hun Song, Kyung Min Kang, Ji Eun Park, Yeo Jung Nam, Yun-jeong Shin, Dong Hyun Cha, Ju Tae Seo, Tae Ki Yoon and Sung Han Shim

    BMC Medical Genetics 2017 18:47

    Published on: 2 May 2017

  12. Research article

    PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population

    Platelet Endothelial Aggregation Receptor 1 (PEAR1), a membrane protein highly expressed in platelets and endothelial cells, plays a role in platelet contact-induced activation, sustained platelet aggregation ...

    Wen-Yi Yang, Thibault Petit, Nicholas Cauwenberghs, Zhen-Yu Zhang, Chang-Sheng Sheng, Lutgarde Thijs, Erika Salvi, Benedetta Izzi, Christophe Vandenbriele, Fang-Fei Wei, Yu-Mei Gu, Lotte Jacobs, Lorena Citterio, Simona Delli Carpini, Cristina Barlassina, Daniele Cusi…

    BMC Medical Genetics 2017 18:45

    Published on: 27 April 2017

  13. Case report

    First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

    Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified.

    Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart and Isabelle Beau

    BMC Medical Genetics 2017 18:44

    Published on: 26 April 2017

  14. Research article

    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

    Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to d...

    Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan and Saadullah Khan

    BMC Medical Genetics 2017 18:42

    Published on: 12 April 2017

  15. Research article

    SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

    Sirtuin-6 (SIRT6) is involved in various crucial cellular pathways, being a key regulator of telomere structure, DNA repair, metabolism, transcriptional control and the NF-kappa B pathway. Sirt6 knock-out mice ha...

    Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson and Peter Hackman

    BMC Medical Genetics 2017 18:41

    Published on: 11 April 2017

  16. Case report

    Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

    Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations hav...

    N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie and D. G. Evans

    BMC Medical Genetics 2017 18:40

    Published on: 5 April 2017

  17. Research article

    Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

    Epidemiological studies have indicated a higher incidence of breast and gastric cancer in patients with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and their relatives, which can be based on...

    Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta and Hercílio Martelli-Júnior

    BMC Medical Genetics 2017 18:39

    Published on: 4 April 2017

  18. Research article

    Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

    While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic met...

    Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim and Yonggoo Kim

    BMC Medical Genetics 2017 18:38

    Published on: 28 March 2017

  19. Case report

    Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

    Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the...

    Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi and Takeo Kato

    BMC Medical Genetics 2017 18:37

    Published on: 27 March 2017

  20. Research article

    A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

    Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. M...

    Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu and Yongyi Yuan

    BMC Medical Genetics 2017 18:36

    Published on: 24 March 2017

  21. Research article

    Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

    Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropat...

    Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu and Jianping Liang

    BMC Medical Genetics 2017 18:35

    Published on: 23 March 2017

  22. Case report

    NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

    Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrim...

    Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki and Alice Abdel Aleem

    BMC Medical Genetics 2017 18:33

    Published on: 21 March 2017

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