Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.

abstract：BACKGROUND:Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole chromosome and focal copy number variations (CNVs). Whole chromosome CNVs are caused by chromosomal i...

journal_title：BMC medical genomics

authors： Zhao Y,Carter R,Natarajan S,Varn FS,Compton DA,Gawad C,Cheng C,Godek KM

更新日期：2019-05-31 00:00:00

abstract：BACKGROUND:A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION:A 7-year-old female was referred for diagnosis due to gro...

journal_title：BMC medical genomics

authors： Sheth H,Trivedi S,Liehr T,Patel K,Jain D,Sheth J,Sheth F

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. CASE PRESENTATION:Clinical exome sequencing of the proband revealed a nov...

journal_title：BMC medical genomics

authors： Marakhonov AV,Konovalov FA,Makaov AK,Vasilyeva TA,Kadyshev VV,Galkina VA,Dadali EL,Kutsev SI,Zinchenko RA

更新日期：2018-02-13 00:00:00

abstract：BACKGROUND:Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been entirely understood. This study intended to investigate the common and tissue-specific pathways invol...

journal_title：BMC medical genomics

authors： Karimizadeh E,Sharifi-Zarchi A,Nikaein H,Salehi S,Salamatian B,Elmi N,Gharibdoost F,Mahmoudi M

更新日期：2019-12-27 00:00:00

abstract：BACKGROUND:Methotrexate is one of the earliest cytotoxic drugs used in cancer therapy, and despite the isolation of multiple other folate antagonists, methotrexate maintains its significant role as a treatment for different types of cancer and other disorders. The usefulness of treatment with methotrexate is limited by...

journal_title：BMC medical genomics

authors： Selga E,Morales C,Noé V,Peinado MA,Ciudad CJ

更新日期：2008-08-11 00:00:00

abstract：BACKGROUND:DNA methylation levels will be important for detection of epigenetic effects. However, there are few reports showing sex-related differences in the sensitivity to DNA methylation. To evaluate their sex-related individual differences in the sensitivity to methylation rigorously, we performed a systematic anal...

journal_title：BMC medical genomics

authors： Watanabe M,Honda C,Osaka Twin Research Group.,Iwatani Y,Yorifuji S,Iso H,Kamide K,Hatazawa J,Kihara S,Sakai N,Watanabe H,Makimoto K,Watanabe M,Honda C,Iwatani Y

更新日期：2016-08-26 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been repor...

journal_title：BMC medical genomics

authors： Furuya M,Kobayashi H,Baba M,Ito T,Tanaka R,Nakatani Y

更新日期：2018-05-02 00:00:00

abstract：BACKGROUND:Current prostate cancer prognostic models are based on pre-treatment prostate specific antigen (PSA) levels, biopsy Gleason score, and clinical staging but in practice are inadequate to accurately predict disease progression. Hence, we sought to develop a molecular panel for prostate cancer progression by re...

journal_title：BMC medical genomics

authors： Sboner A,Demichelis F,Calza S,Pawitan Y,Setlur SR,Hoshida Y,Perner S,Adami HO,Fall K,Mucci LA,Kantoff PW,Stampfer M,Andersson SO,Varenhorst E,Johansson JE,Gerstein MB,Golub TR,Rubin MA,Andrén O

更新日期：2010-03-16 00:00:00

abstract：BACKGROUND:Hypermethylation of promoter CpG islands with associated loss of gene expression, and hypomethylation of CpG-rich repetitive elements that may destabilize the genome are common events in most, if not all, epithelial cancers. METHODS:The methylation of 6,502 CpG-rich sequences spanning the genome was analyze...

journal_title：BMC medical genomics

authors： Watts GS,Futscher BW,Holtan N,Degeest K,Domann FE,Rose SL

更新日期：2008-09-30 00:00:00

abstract：BACKGROUND:One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic data. More precisely, given a list of approximately 1500 patient records, each with 18 binary features containing information on specific mutations, the idea was f...

journal_title：BMC medical genomics

authors： Chen H,Gilad-Bachrach R,Han K,Huang Z,Jalali A,Laine K,Lauter K

更新日期：2018-10-11 00:00:00

abstract：BACKGROUND:The zebrafish is recognized as a versatile cancer and drug screening model. However, it is not known whether the estrogen-responsive genes and signaling pathways that are involved in estrogen-dependent carcinogenesis and human cancer are operating in zebrafish. In order to determine the potential of zebrafis...

journal_title：BMC medical genomics

authors： Lam SH,Lee SG,Lin CY,Thomsen JS,Fu PY,Murthy KR,Li H,Govindarajan KR,Nick LC,Bourque G,Gong Z,Lufkin T,Liu ET,Mathavan S

更新日期：2011-05-16 00:00:00

abstract：BACKGROUND:Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on the obesity status in 2007 by a range of publications. Recent report on its implication in adipocytes underscored its molecular and functional mechanics in pathology. Still, the population ...

journal_title：BMC medical genomics

authors： Babenko V,Babenko R,Gamieldien J,Markel A

更新日期：2019-03-13 00:00:00

abstract：BACKGROUND:With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and higher order interactions helps explain the genetic etiology of human diseases, yet genome-wide analysis...

journal_title：BMC medical genomics

authors： Sun R,Xia X,Chong KC,Zee BC,Wu WKK,Wang MH

更新日期：2019-12-24 00:00:00

abstract：BACKGROUND:Rhodesiense sleeping sickness is caused by infection with T. b rhodesiense parasites resulting in an acute disease that is fatal if not treated in time. The aim of this study was to understand the global impact of active T. b rhodesiense infection on the patient's immune response in the early and late stages...

journal_title：BMC medical genomics

authors： Mulindwa J,Matovu E,Enyaru J,Clayton C

更新日期：2020-01-30 00:00:00

abstract：BACKGROUND:The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the content, structure, and existing analyses of these datasets. While a number of efforts are underway ...

journal_title：BMC medical genomics

authors： Shi J,Zheng M,Yao L,Ge Y

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND:The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, a...

journal_title：BMC medical genomics

authors： Abraham JE,Maranian MJ,Spiteri I,Russell R,Ingle S,Luccarini C,Earl HM,Pharoah PP,Dunning AM,Caldas C

更新日期：2012-05-30 00:00:00

abstract：BACKGROUND:Differential gene expression is important to understand the biological differences between healthy and diseased states. Two common sources of differential gene expression data are microarray studies and the biomedical literature. METHODS:With the aid of text mining and gene expression analysis we have exami...

journal_title：BMC medical genomics

authors： Rodriguez-Esteban R,Jiang X

更新日期：2017-10-11 00:00:00

abstract：BACKGROUND:Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. METHODS:To identify genetic factors for early AMD, we conducted a genome-wide associ...

journal_title：BMC medical genomics

authors： Winkler TW,Grassmann F,Brandl C,Kiel C,Günther F,Strunz T,Weidner L,Zimmermann ME,Korb CA,Poplawski A,Schuster AK,Müller-Nurasyid M,Peters A,Rauscher FG,Elze T,Horn K,Scholz M,Cañadas-Garre M,McKnight AJ,Quinn N,H

更新日期：2020-08-26 00:00:00

abstract：BACKGROUND:Postmenopausal hormone therapy (HT) influences endogenous hormone concentrations and increases the risk of breast cancer. Gene expression profiling may reveal the mechanisms behind this relationship.Our objective was to explore potential associations between sex hormones and gene expression in whole blood fr...

journal_title：BMC medical genomics

authors： Waaseth M,Olsen KS,Rylander C,Lund E,Dumeaux V

更新日期：2011-03-31 00:00:00

abstract：BACKGROUND:Meiotic recombination happens during the process of meiosis when chromosomes inherited from two parents exchange genetic materials to generate chromosomes in the gamete cells. The recombination events tend to occur in narrow genomic regions called recombination hotspots. Its dysregulation could lead to serio...

journal_title：BMC medical genomics

authors： Guo J,Chen H,Yang P,Lee YT,Wu M,Przytycka TM,Kwoh CK,Zheng J

更新日期：2018-04-20 00:00:00

abstract：BACKGROUND:Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient. Next generation sequencing of RNA (RNA-Seq) is a suitable method to detect targets for individuali...

journal_title：BMC medical genomics

authors： Meißner T,Fisch KM,Gioia L,Su AI

更新日期：2015-05-21 00:00:00

abstract：BACKGROUND:Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases. MET...

journal_title：BMC medical genomics

authors： Alfares A,Alsubaie L,Aloraini T,Alaskar A,Althagafi A,Alahmad A,Rashid M,Alswaid A,Alothaim A,Eyaid W,Ababneh F,Albalwi M,Alotaibi R,Almutairi M,Altharawi N,Alsamer A,Abdelhakim M,Kafkas S,Mineta K,Cheung N,Abdall

更新日期：2020-07-17 00:00:00

abstract：BACKGROUND:Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in monozygotic twins. This high discordance is often explained by the role of yet unknown environmental...

journal_title：BMC medical genomics

authors： Castellani CA,Laufer BI,Melka MG,Diehl EJ,O'Reilly RL,Singh SM

更新日期：2015-05-06 00:00:00

abstract：BACKGROUND:Understanding how genes are expressed specifically in particular tissues is a fundamental question in developmental biology. Many tissue-specific genes are involved in the pathogenesis of complex human diseases. However, experimental identification of tissue-specific genes is time consuming and difficult. Th...

journal_title：BMC medical genomics

authors： Teng S,Yang JY,Wang L

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes ...

journal_title：BMC medical genomics

authors： Chater-Diehl E,Ejaz R,Cytrynbaum C,Siu MT,Turinsky A,Choufani S,Goodman SJ,Abdul-Rahman O,Bedford M,Dorrani N,Engleman K,Flores-Daboub J,Genevieve D,Mendoza-Londono R,Meschino W,Perrin L,Safina N,Townshend S,Scherer S

更新日期：2019-07-09 00:00:00

abstract：BACKGROUND:While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by tradi...

journal_title：BMC medical genomics

authors： West J,Cogan J,Geraci M,Robinson L,Newman J,Phillips JA,Lane K,Meyrick B,Loyd J

更新日期：2008-09-29 00:00:00

abstract：BACKGROUND:Integrating multiple data sources is indispensable in improving disease gene identification. It is not only due to the fact that disease genes associated with similar genetic diseases tend to lie close with each other in various biological networks, but also due to the fact that gene-disease associations are...

journal_title：BMC medical genomics

authors： Chen B,Li M,Wang J,Shang X,Wu FX

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar ...

journal_title：BMC medical genomics

authors： Markunas CA,Lock E,Soldano K,Cope H,Ding CK,Enterline DS,Grant G,Fuchs H,Ashley-Koch AE,Gregory SG

更新日期：2014-06-25 00:00:00

abstract：BACKGROUND:Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence obse...

journal_title：BMC medical genomics

authors： McKenzie M,Henders AK,Caracella A,Wray NR,Powell JE

更新日期：2014-06-03 00:00:00

abstract：BACKGROUND:The HIV viral genome mutates at a high rate and poses a significant long term health risk even in the presence of combination antiretroviral therapy. Current methods for predicting a patient's response to therapy rely on site-directed mutagenesis experiments and in vitro resistance assays. In this bioinforma...

journal_title：BMC medical genomics

authors： Dampier W,Evans P,Ungar L,Tozeren A

更新日期：2009-07-23 00:00:00