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  1. Research article

    Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

    Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of ...

    Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano and Monica Miozzo

    BMC Medical Genetics 2017 18:115

    Published on: 18 October 2017

  2. Case report

    “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

    Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozyg...

    Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil and Sehime G. Temel

    BMC Medical Genetics 2017 18:114

    Published on: 16 October 2017

  3. Research article

    Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

    Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a n...

    Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel and Silke Kauferstein

    BMC Medical Genetics 2017 18:113

    Published on: 10 October 2017

  4. Research article

    Relationship between interpersonal sensitivity and leukocyte telomere length

    Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavio...

    Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto and Koichi Otani

    BMC Medical Genetics 2017 18:112

    Published on: 10 October 2017

  5. Research article

    Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

    Down’s syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40–60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gende...

    Tereza Cristina Pinheiro Diogenes, Felipe Alves Mourato, José Luiz de Lima Filho and Sandra da Silva Mattos

    BMC Medical Genetics 2017 18:111

    Published on: 6 October 2017

  6. Research article

    Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands

    Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom seve...

    Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma and Kanchan Mukhopadhyay

    BMC Medical Genetics 2017 18:109

    Published on: 5 October 2017

  7. Research article

    Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

    Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development...

    Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng and Xiangdong Kong

    BMC Medical Genetics 2017 18:108

    Published on: 5 October 2017

  8. Research article

    Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood

    Osteoporosis individual susceptibility is determined by the interaction of multiple genetic variants and environmental factors. The aim of this study was to conduct SNP-SNP interaction analyses in candidate ge...

    María Correa-Rodríguez, Sebastien Viatte, Jonathan Massey, Jacqueline Schmidt-RioValle, Blanca Rueda-Medina and Gisela Orozco

    BMC Medical Genetics 2017 18:107

    Published on: 3 October 2017

  9. Case report

    Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

    Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozy...

    Bo-Young Kim, Mi-Hyun Park, Hae-Mi Woo, Hye-Yeong Jo, Ji Hoon Kim, Hyung Jin Choi and Soo Kyung Koo

    BMC Medical Genetics 2017 18:106

    Published on: 2 October 2017

  10. Case report

    Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

    Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of g...

    Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson…

    BMC Medical Genetics 2017 18:103

    Published on: 2 October 2017

  11. Case report

    Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

    Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapulop...

    Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó and Béla Melegh

    BMC Medical Genetics 2017 18:105

    Published on: 19 September 2017

  12. Research article

    Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

    Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tet...

    Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    BMC Medical Genetics 2017 18:102

    Published on: 16 September 2017

  13. Research article

    Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents

    Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied. ...

    Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene and Vaiva Lesauskaite

    BMC Medical Genetics 2017 18:100

    Published on: 13 September 2017

  14. Case report

    Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report

    Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to fam...

    Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado and Rafael Selgas

    BMC Medical Genetics 2017 18:97

    Published on: 31 August 2017

  15. Research article

    Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

    Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wid...

    Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms…

    BMC Medical Genetics 2017 18:94

    Published on: 29 August 2017

  16. Research article

    An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production

    Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for H...

    Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti and Roberto Gambari

    BMC Medical Genetics 2017 18:93

    Published on: 29 August 2017

  17. Case report

    A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

    Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous ...

    Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu and Yi-Min Sun

    BMC Medical Genetics 2017 18:91

    Published on: 23 August 2017

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