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  1. Research article

    Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

    Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and ...

    Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez and Luisa M. Botella

    BMC Medical Genetics 2017 18:20

    Published on: 23 February 2017

  2. Research article

    African ancestry is associated with facial melasma in women: a cross-sectional study

    Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, a...

    Maria Paula Barbieri D’Elia, Marcela Calixto Brandão, Bruna Ribeiro de Andrade Ramos, Márcia Guimarães da Silva, Luciane Donida Bartoli Miot, Sidney Emanuel Batista dos Santos and Hélio Amante Miot

    BMC Medical Genetics 2017 18:17

    Published on: 17 February 2017

  3. Research article

    BCL-2 and MYC gain/amplification is correlated with central nervous system involvement in diffuse large B cell lymphoma at leukemic phase

    Diffuse large B-cell lymphoma (DLBCL) of leukemic phase is a rare clinical manifestation, but is highly prevalent with central nervous system involvement (CNSI). Little is known about this rare clinical observ...

    Dehui Zou, Shuhua Yi, Rui Cui, Wei Liu, Chengwen Li, Shizhen Zhong, Zhen Yu, Zengjun Li, Rui Lv, Kun Ru, Huijun Wang, Gang An, Yan Xu and Lugui Qiu

    BMC Medical Genetics 2017 18:16

    Published on: 16 February 2017

  4. Research article

    Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

    Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 ...

    Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F. Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J. Keating, Hui Jiang, Hakon Hakonarson…

    BMC Medical Genetics 2017 18:11

    Published on: 15 February 2017

  5. Case report

    Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

    Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cyt...

    Shiyuan Zhou, Hongyu Ma, Bo Gao, Guangming Fang, Yi Zeng, Qing Zhang and GaoFu Qi

    BMC Medical Genetics 2017 18:15

    Published on: 14 February 2017

  6. Research article

    A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

    Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unn...

    Heidi K. Soini, Antti Väisänen, Mikko Kärppä, Reetta Hinttala, Laura Kytövuori, Jukka S. Moilanen, Johanna Uusimaa and Kari Majamaa

    BMC Medical Genetics 2017 18:14

    Published on: 10 February 2017

  7. Research article

    A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

    Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family...

    Wen’an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong and Buling Wu

    BMC Medical Genetics 2017 18:13

    Published on: 7 February 2017

  8. Research article

    Microsatellite polymorphisms associated with human behavioural and psychological phenotypes including a gene-environment interaction

    The genetic and environmental influences on human personality and behaviour are a complex matter of ongoing debate. Accumulating evidence indicates that short tandem repeats (STRs) in regulatory regions are go...

    Andrew T. M. Bagshaw, L. John Horwood, David M. Fergusson, Neil J. Gemmell and Martin A. Kennedy

    BMC Medical Genetics 2017 18:12

    Published on: 3 February 2017

  9. Research article

    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

    Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the media...

    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 and Francesco Salvatore

    BMC Medical Genetics 2017 18:10

    Published on: 1 February 2017

  10. Case report

    Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

    Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalen...

    Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville and Massimiliano Rossi

    BMC Medical Genetics 2017 18:9

    Published on: 31 January 2017

  11. Research article

    Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

    The prevalence of atopic dermatitis has increased over the last 10 years. Atopic dermatitis tends to run in families and commonly begins to manifest in childhood. The prevalence of atopic dermatitis is as high...

    Won Il Heo, Kui Young Park, Taewon Jin, Mi-Kyung Lee, MinJeong Kim, Eung Ho Choi, Hae-Suk Kim, Jung Min Bae, Nam Ju Moon and Seong Jun Seo

    BMC Medical Genetics 2017 18:8

    Published on: 26 January 2017

  12. Case report

    Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

    Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ ...

    Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri and Frenny Sheth

    BMC Medical Genetics 2017 18:5

    Published on: 17 January 2017

  13. Research article

    Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study

    Reduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in...

    Geetha Chittoor, Karin Haack, Nitesh R. Mehta, Sandra Laston, Shelley A. Cole, Anthony G. Comuzzie, Nancy F. Butte and V. Saroja Voruganti

    BMC Medical Genetics 2017 18:6

    Published on: 17 January 2017

  14. Research article

    A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

    Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly re...

    Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato…

    BMC Medical Genetics 2017 18:4

    Published on: 13 January 2017

  15. Technical advance

    Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

    Mutations in Wilm’s tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 o...

    Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan and Anil Vasudevan

    BMC Medical Genetics 2017 18:3

    Published on: 10 January 2017

  16. Research article

    A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

    Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachy...

    Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin and Qian Pan

    BMC Medical Genetics 2017 18:2

    Published on: 7 January 2017

  17. Case report

    New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

    CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectode...

    Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton and Carmen Ayuso

    BMC Medical Genetics 2017 18:1

    Published on: 7 January 2017

  18. Research article

    Sacral agenesis: a pilot whole exome sequencing and copy number study

    Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the ur...

    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 and Desmond D. Campbell

    BMC Medical Genetics 2016 17:98

    Published on: 22 December 2016

  19. Case report

    First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

    Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intel...

    María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro and Elena Domínguez-Garrido

    BMC Medical Genetics 2016 17:97

    Published on: 13 December 2016

  20. Case report

    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

    Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. W...

    Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    BMC Medical Genetics 2016 17:96

    Published on: 12 December 2016

  21. Case report

    Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report

    Pseudomyxoma peritonei (PMP) is a rare disease with an estimated incidence of 1–2 cases per million individuals per year. PMP is characterized by the accumulation of abundant mucinous or gelatinous fluid deriv...

    Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa and Hideaki Yano

    BMC Medical Genetics 2016 17:94

    Published on: 9 December 2016

  22. Case report

    A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

    Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); howe...

    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 and Paldeep S. Atwal

    BMC Medical Genetics 2016 17:93

    Published on: 5 December 2016

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