Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.

abstract：BACKGROUND:Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more...

journal_title：BMC medical genetics

authors： Yu W,Jin H,Deng J,Nan D,Huang Y

更新日期：2020-06-03 00:00:00

abstract：BACKGROUND:Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated wi...

journal_title：BMC medical genetics

authors： Kim J,Stirling KJ,Cooper ME,Ascoli M,Momany AM,McDonald EL,Ryckman KK,Rhea L,Schaa KL,Cosentino V,Gadow E,Saleme C,Shi M,Hallman M,Plunkett J,Teramo KA,Muglia LJ,Feenstra B,Geller F,Boyd HA,Melbye M,Marazita ML

更新日期：2013-07-26 00:00:00

abstract：BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...

journal_title：BMC medical genetics

authors： Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol M

更新日期：2006-04-28 00:00:00

abstract：BACKGROUND:The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to fasting glucose levels and Type 2 diabetes. METHODS:Thirty-nine HapMap defined tag SNPs in a 1.08 ...

journal_title：BMC medical genetics

authors： Laramie JM,Wilk JB,Williamson SL,Nagle MW,Latourelle JC,Tobin JE,Province MA,Borecki IB,Myers RH

更新日期：2008-05-22 00:00:00

abstract：BACKGROUND: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. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...

journal_title：BMC medical genetics

authors： Khaali W,Moumad K,Ben Driss EK,Benider A,Ben Ayoub W,Hamdi-Cherif M,Boualga K,Hassen E,Corbex M,Khyatti M

更新日期：2016-10-12 00:00:00

abstract：BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...

journal_title：BMC medical genetics

authors： Tang W,Devereux RB,Li N,Oberman A,Kitzman DW,Rao DC,Hopkins PN,Claas SA,Arnett DK

更新日期：2009-05-09 00:00:00

abstract：BACKGROUND:Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple S...

journal_title：BMC medical genetics

authors： Ambroise J,Butoescu V,Robert A,Tombal B,Gala JL

更新日期：2015-06-25 00:00:00

abstract：BACKGROUND:Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS:We used genome-wide linkage analysis and whole-exome sequencing in c...

journal_title：BMC medical genetics

authors： Tan Z,Zeng H,Xu Z,Tian Q,Gao X,Zhou C,Zheng Y,Wang J,Ling G,Wang B,Yang Y,Ma L

更新日期：2018-07-05 00:00:00

abstract：BACKGROUND:Graves disease (GD) is an organ-specific autoimmune disease characterized by hyperthyroidism, diffuse goiter, autoantibodies against thyroid-specific antigens, and dermopathy. Studies of GD have demonstrated the importance of the Th2 and Th17 immune responses in mediating disease progression. In the present ...

journal_title：BMC medical genetics

authors： Tsai KH,Tsai FJ,Lin HJ,Lin HJ,Liu YH,Liao WL,Wan L

更新日期：2012-11-30 00:00:00

abstract：BACKGROUND:Probably the best example of the rise and maintenance of balancing selection as an evolutionary trend is the role of S-haemoglobin (HbS - rs334) in protecting from malaria. Yet, the dynamics of such a process remains poorly understood, particularly in relation to different malaria transmission rates and the ...

journal_title：BMC medical genetics

authors： Salih NA,Hussain AA,Almugtaba IA,Elzein AM,Elhassan IM,Khalil EA,Ishag HB,Mohammed HS,Kwiatkowski D,Ibrahim ME

更新日期：2010-02-03 00:00:00

abstract：BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...

journal_title：BMC medical genetics

authors： Serretti A,Smeraldi E

更新日期：2004-12-09 00:00:00

abstract：BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....

journal_title：BMC medical genetics

authors： Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher B

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND:A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affec...

journal_title：BMC medical genetics

authors： Mir H,Raza SI,Touseef M,Memon MM,Khan MN,Jaffar S,Ahmad W

更新日期：2014-02-26 00:00:00

abstract：BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...

journal_title：BMC medical genetics

authors： Gutiérrez-Aguilar R,Benmezroua Y,Vaillant E,Balkau B,Marre M,Charpentier G,Sladek R,Froguel P,Neve B

更新日期：2007-08-09 00:00:00

abstract：BACKGROUND:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...

journal_title：BMC medical genetics

authors： Balendra R,Uphill J,Collinson C,Druyeh R,Adamson G,Hummerich H,Zerr I,Gambetti P,Collinge J,Mead S

更新日期：2016-04-07 00:00:00

abstract：BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...

journal_title：BMC medical genetics

authors： Xiang X,Yuan D,Kong P,Chen T,Yao H,Lin S,Zhang X,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested...

journal_title：BMC medical genetics

authors： Tischkowitz M,Sabbaghian N,Hamel N,Pouchet C,Foulkes WD,Mes-Masson AM,Provencher DM,Tonin PN

更新日期：2013-01-09 00:00:00

abstract：BACKGROUND:Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS:Two two-generation Turkish families with a total o...

journal_title：BMC medical genetics

authors： Dogan H,Akdemir F,Tasdemir S,Atis O,Diyarbakir E,Yildirim R,Emet M,Ikbal M

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

journal_title：BMC medical genetics

authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

更新日期：2013-01-08 00:00:00

abstract：BACKGROUND:Insulin like growth factor 2 (IGF2) is an imprinted gene, which has an important role in fetal growth as established in mice models. IGF2 is downregulated through hypomethylation of a differentially methylated region (DMR) in Silver Russell syndrome (SRS), characterised by growth restriction. We have previou...

journal_title：BMC medical genetics

authors： Murphy R,Ibáñez L,Hattersley A,Tost J

更新日期：2012-05-30 00:00:00

abstract：BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...

journal_title：BMC medical genetics

authors： Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang C

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Proper expression and functioning of transcription factors (TFs) are essential for regulation of different traits and thus could be crucial for the development of complex diseases. Subjects with Down syndrome (DS) have a higher incidence of acute lymphoblastic leukemia (ALL) while solid tumors, like breast c...

journal_title：BMC medical genetics

authors： Chatterjee A,Dutta S,Mukherjee S,Mukherjee N,Dutta A,Mukherjee A,Sinha S,Panda CK,Chaudhuri K,Roy AL,Mukhopadhyay K

更新日期：2013-01-23 00:00:00

abstract：BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...

journal_title：BMC medical genetics

authors： Peter I,Mitchell AA,Ozelius L,Erazo M,Hu J,Doheny D,Abreu MT,Present DH,Ullman T,Benkov K,Korelitz BI,Mayer L,Desnick RJ,New York Crohn's Disease Working Group.

更新日期：2011-05-06 00:00:00

abstract：BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...

journal_title：BMC medical genetics

authors： Oder D,Vergho D,Ertl G,Wanner C,Nordbeck P

更新日期：2016-07-19 00:00:00

abstract：BACKGROUND:CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, th...

journal_title：BMC medical genetics

authors： Chen X,Yan K,Gao Y,Wang H,Chen G,Wu B,Qin Q,Yang L,Zhou W

更新日期：2019-05-30 00:00:00

abstract：BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...

journal_title：BMC medical genetics

authors： Makarov R,Steiner B,Gucev Z,Tasic V,Wieacker P,Wieland I

更新日期：2010-06-17 00:00:00

abstract：BACKGROUND:von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic ...

journal_title：BMC medical genetics

authors： Rasmussen A,Alonso E,Ochoa A,De Biase I,Familiar I,Yescas P,Sosa AL,Rodríguez Y,Chávez M,López-López M,Bidichandani SI

更新日期：2010-01-12 00:00:00

abstract：BACKGROUND:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...

journal_title：BMC medical genetics

authors： Zhou H,Hong X,Jiang S,Dong H,Xu X,Xu X

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...

journal_title：BMC medical genetics

authors： López M,García-Oguiza A,Armstrong J,García-Cobaleda I,García-Miñaur S,Santos-Simarro F,Seidel V,Domínguez-Garrido E

更新日期：2018-03-05 00:00:00

abstract：BACKGROUND:Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individual...

journal_title：BMC medical genetics

authors： Khan SA,Khan MA,Muhammad N,Bashir H,Khan N,Muhammad N,Yilmaz R,Khan S,Wasif N

更新日期：2020-05-07 00:00:00