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  1. Case report

    Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contr...

    Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi and Xinmin Li

    BMC Medical Genetics 2016 17:91

    Published on: 3 December 2016

  2. Research article

    Physical activity and sedentary behavior can modulate the effect of the PNPLA3 variant on childhood NAFLD: a case-control study in a Chinese population

    The patatin like phospholipase containing domain 3 gene (PNPLA3) rs738409 C > G polymorphism, one of the most important gene polymorphisms involved in hepatic steatosis, has been reported to interact with differe...

    Shuo Wang, Jieyun Song, Xiaorui Shang, Nitesh Chawla, Yide Yang, Xiangrui Meng, Haijun Wang and Jun Ma

    BMC Medical Genetics 2016 17:90

    Published on: 1 December 2016

  3. Research article

    Assessment of copy number variations in 120 patients with Poland syndrome

    Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but...

    Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone…

    BMC Medical Genetics 2016 17:89

    Published on: 25 November 2016

  4. Research article

    Effect of Pregnane X Receptor*1B genetic polymorphisms on postoperative analgesia with fentanyl in Chinese patients undergoing gynecological surgery

    The purpose of the study was to investigate the effects of the pregnane X receptor (PXR)*1B polymorphisms on CYP3A4 enzyme activity and postoperative fentanyl consumption in Chinese patients undergoing gynecologi...

    Jing-Jing Yuan, Xiao-Jing Ma, Zhi-Song Li, Yan-Zi Chang, Wei Zhang, Quan-Cheng Kan, Jun-Kai Hou and Li-Rong Zhang

    BMC Medical Genetics 2016 17:87

    Published on: 23 November 2016

  5. Case report

    Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

    A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly be...

    Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I. Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara and Emily Farrow

    BMC Medical Genetics 2016 17:86

    Published on: 21 November 2016

  6. Case report

    Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report

    Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanisti...

    Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi and Kuniaki Seyama

    BMC Medical Genetics 2016 17:85

    Published on: 21 November 2016

  7. Research article

    Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families

    The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases.

    Alan Hanley, Katie A. Walsh, Caroline Joyce, Michael A. McLellan, Sebastian Clauss, Amaya Hagen, Marisa A. Shea, Nathan R. Tucker, Honghuang Lin, Gerard J. Fahy and Patrick T. Ellinor

    BMC Medical Genetics 2016 17:83

    Published on: 17 November 2016

  8. Case report

    Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

    Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, w...

    Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M. Marincola, Khalid A. Fakhro and Chiara Cugno

    BMC Medical Genetics 2016 17:84

    Published on: 17 November 2016

  9. Research article

    Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

    CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor...

    Sharon Aharoni, Katy E. S. Barwick, Rachel Straussberg, Gaurav V. Harlalka, Yoram Nevo, Barry A. Chioza, Meriel M. McEntagart, Aviva Mimouni-Bloch, Michael Weedon and Andrew H. Crosby

    BMC Medical Genetics 2016 17:82

    Published on: 16 November 2016

  10. Research article

    Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A

    The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high ...

    Murray Cadzow, Tony R. Merriman, James Boocock, Nicola Dalbeth, Lisa K. Stamp, Michael A. Black, Peter M. Visscher and Phillip L. Wilcox

    BMC Medical Genetics 2016 17:80

    Published on: 15 November 2016

  11. Research article

    Clinical utility of array comparative genomic hybridisation in prenatal setting

    The objective of reported study was to evaluate the clinical utility of prenatal microarray testing for submicroscopic genomic imbalances in routine prenatal settings and to stratify the findings according to ...

    Luca Lovrecic, Ziga Iztok Remec, Marija Volk, Gorazd Rudolf, Karin Writzl and Borut Peterlin

    BMC Medical Genetics 2016 17:81

    Published on: 15 November 2016

  12. Research article

    A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis

    Chronic Fatigue Syndrome, also known as Myalgic Encephalomyelitis (CFS/ME) is a debilitating condition of unknown aetiology. It is characterized by a range of physiological effects including neurological, sens...

    Samantha Johnston, Donald Staines, Anne Klein and Sonya Marshall-Gradisnik

    BMC Medical Genetics 2016 17:79

    Published on: 11 November 2016

  13. Case report

    Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

    The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and i...

    Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic and M. E. Suzanne Lewis

    BMC Medical Genetics 2016 17:78

    Published on: 10 November 2016

  14. Case report

    Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

    Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutat...

    Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang and Lingqian Wu

    BMC Medical Genetics 2016 17:77

    Published on: 8 November 2016

  15. Technical advance

    Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR)

    Inherited disorders of haemoglobin are the world’s most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the haemoglobin beta gene (HBB) mak...

    Andrew Turner, Jurgen Sasse and Aniko Varadi

    BMC Medical Genetics 2016 17:75

    Published on: 19 October 2016

  16. Research article

    CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

    Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial.

    Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti and Rosalia D’Angelo

    BMC Medical Genetics 2016 17:74

    Published on: 13 October 2016

  17. Research article

    No association between TGF-β1 polymorphisms and risk of nasopharyngeal carcinoma in a large North African case-control study

    Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa....

    Wafa Khaali, Khalid Moumad, El Khalil Ben Driss, Abdellatif Benider, Wided Ben Ayoub, Mokhtar Hamdi-Cherif, Kada Boualga, Elham Hassen, Marilys Corbex and Meriem Khyatti

    BMC Medical Genetics 2016 17:72

    Published on: 12 October 2016

  18. Review

    Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia

    Hearing Impairment (HI) can have genetic or environmental causes and in some cases, an interplay of both. Genetic causes are difficult to determine as mutations in more than 90 genes have been shown recently t...

    Ashraf Dallol, Kamal Daghistani, Aisha Elaimi, Wissam A. Al-Wazani, Afaf Bamanie, Malek Safiah, Samira Sagaty, Layla Taha, Rawabi Zahed, Osama Bajouh, Adeel Gulzar Chaudhary, Mamdooh Abdullah Gari, Rola Turki, Mohammed Hussein Al-Qahtani and Adel Mohammed Abuzenadah

    BMC Medical Genetics 2016 17(Suppl 1):67

    Published on: 10 October 2016

    This article is part of a Supplement: Volume 17 Supplement 1

  19. Review

    Identification of novel genetic variations affecting osteoarthritis patients

    Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure ...

    Mamdooh Abdullah Gari, Mohammed AlKaff, Haneen S. Alsehli, Ashraf Dallol, Abdullah Gari, Muhammad Abu-Elmagd, Roaa Kadam, Mohammed F. Abuzinadah, Mazin Gari, Adel M. Abuzenadah, Kalamegam Gauthaman, Heba Alkhatabi and Mohammed M. Abbas

    BMC Medical Genetics 2016 17(Suppl 1):68

    Published on: 10 October 2016

    This article is part of a Supplement: Volume 17 Supplement 1

  20. Research article

    Association between global leukocyte DNA methylation and cardiovascular risk in postmenopausal women

    Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence th...

    Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana and Poli Mara Spritzer

    BMC Medical Genetics 2016 17:71

    Published on: 10 October 2016

  21. Research

    Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia

    Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chr...

    Rola F. Turki, Mourad Assidi, Huda A. Banni, Hanan A. Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A. Rouzi, Osama Bajouh, Hassan S. Jamal, Mohammed H. Al-Qahtani and Adel M. Abuzenadah

    BMC Medical Genetics 2016 17(Suppl 1):69

    Published on: 10 October 2016

    This article is part of a Supplement: Volume 17 Supplement 1

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