The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

abstract：BACKGROUND:β-Globin gene cluster haplotypes associated with the Hb D-Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study, we have identified genetic relationships and formation periods between t...

journal_title：Molecular genetics & genomic medicine

authors： Ozturk O,Arikan S,Atalay A,Atalay EO

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39-1.73:100,000] according to clinical records and 1.09:100,000 [95% CI, 0.34-3.55:100,000] by neonatal screen...

journal_title：Molecular genetics & genomic medicine

authors： Weber Hoss GR,Sperb-Ludwig F,Schwartz IVD,Blom HJ

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. Haploinsufficiency and also point mutations of NFIX gene have been proposed as its leading causative mechanism, however, due to the limited number of cases and different deletion sizes, genotype/phenotyp...

journal_title：Molecular genetics & genomic medicine

authors： Bellucco FT,de Mello CB,Meloni VA,Melaragno MI

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. International discourse has highl...

journal_title：Molecular genetics & genomic medicine

authors： Dillon B,Feben C,Segal D,du Plessis J,Reynders D,Wainwright R,Poole J,Krause A

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the genetic factors associated with preeclampsia in Africa in general and in Sudan in specific. METHODS:A case-control study (60 women in each arm) was conducted at Saad Abualila Hospital in Khartoum, Sudan, from Marc...

journal_title：Molecular genetics & genomic medicine

authors： Hamid HM,Abdalla SE,Sidig M,Adam I,Hamdan HZ

更新日期：2020-03-01 00:00:00

abstract：PURPOSE:Histone deacetylase inhibitor (HDACI) is a novel therapeutic option for cancer. However, the effects of HDACIs on chronic myeloid leukemia (CML) and the underlying mechanisms are still unknown. The aim of this study was to investigate the effect and the mechanism-of-action of two HDACI members, sodium butyrate ...

journal_title：Molecular genetics & genomic medicine

authors： Jia X,Zheng Y,Guo Y,Chen K

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not alway...

journal_title：Molecular genetics & genomic medicine

authors： Cope H,Spillmann R,Rosenfeld JA,Brokamp E,Signer R,Schoch K,Kelley EG,Sullivan JA,Macnamara E,Lincoln S,Golden-Grant K,Undiagnosed Diseases Network.,Orengo JP,Clark G,Burrage LC,Posey JE,Punetha J,Robertson A,Cogan J

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease with colorectal adenomatous polyps as the main clinical manifestations. The objective of this study was to analyze and compare the expression levels of tumor proliferation and angiogenesis-related genes in different tissue secti...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Z,Wang D,Xu C,Li Y,Yu Y,Chen C,Li M,Zhang X

更新日期：2020-12-01 00:00:00

abstract：:Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, we developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) data (SpliceFinder). SpliceFinder integrates two fun...

journal_title：Molecular genetics & genomic medicine

authors： Spinelli R,Pirola A,Redaelli S,Sharma N,Raman H,Valletta S,Magistroni V,Piazza R,Gambacorti-Passerini C

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:Excessive or prolonged usage of dexamethasone can cause serious side effects, but few studies reveal the related mechanism. Dexamethasone work differently in blood tumors and solid tumors, and the cause is still obscure. The aims of this study was to identify potential biomarkers associated with the side eff...

journal_title：Molecular genetics & genomic medicine

authors： Jiang D,Jin H,Zuo J,Kong Y,Zhang X,Dong Q,Xu Z,Li Y

更新日期：2020-04-01 00:00:00

abstract：BACKGROUND:The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the preval...

journal_title：Molecular genetics & genomic medicine

authors： Manor E,Gonen R,Sarussi B,Keidar-Friedman D,Kumar J,Tang HT,Tassone F

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Aneurysmal subarachnoid hemorrhage (aSAH) has high fatality and permanent disability rates due to the severe damage to brain cells and inflammation. The SERPINE1 gene that encodes PAI-1 for the regulation of tissue plasminogen activator is considered an important therapeutic target for aSAH. METHODS:Six SNP...

journal_title：Molecular genetics & genomic medicine

authors： Lin M,Griessenauer CJ,Starke RM,Tubbs RS,Shoja MM,Foreman PM,Vyas NA,Walters BC,Harrigan MR,Hendrix P,Fisher WS,Pittet JF,Mathru M,Lipsky RH

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:The ECE1 gene polymorphisms have been studied as a candidate gene in essential hypertension, but no consensus has been reached. To systematically explore their possible association, a case-control study was conducted. METHODS:This study included 398 hypertensive subjects and 596 healthy volunteers as contro...

journal_title：Molecular genetics & genomic medicine

authors： Wang H,Liu J,Liu K,Liu Y,Wen J,Wang Z,Wen S

更新日期：2020-04-01 00:00:00

abstract：BACKGROUND:Milroy-like disease is the diagnostic definition used for patients with phenotypes that resemble classic Milroy disease (MD) but are negative to genetic testing for FLT4. In this study, we aimed at performing a genetic characterization and biochemical analysis of VEGF-C variations found in a female proband b...

journal_title：Molecular genetics & genomic medicine

authors： Mukenge S,Jha SK,Catena M,Manara E,Leppänen VM,Lenti E,Negrini D,Bertelli M,Brendolan A,Jeltsch M,Aldrighetti L

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individua...

journal_title：Molecular genetics & genomic medicine

authors： Hiraide T,Watanabe S,Matsubayashi T,Yanagi K,Nakashima M,Ogata T,Saitsu H

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. METHODS:Here, we present a patient with an extremely aggressive and giant prolactinoma accompa...

journal_title：Molecular genetics & genomic medicine

authors： Miao Y,Li C,Guo J,Wang H,Gong L,Xie W,Zhang Y

更新日期：2019-12-01 00:00:00

abstract：OBJECTIVES:This study aimed to investigate and confirm the association between 15 single nucleotide polymorphisms of four susceptibility genes (NBS1, TP53, PTEN, and BRIP1) and the susceptibility of breast cancer. METHODS:The genome DNA was extracted from peripheral blood and tumor tissues from one hundred and sevente...

journal_title：Molecular genetics & genomic medicine

authors： Li X,Li Z,Yang M,Luo Y,Hu L,Xiao Z,Huang A,Huang J

更新日期：2021-01-05 00:00:00

abstract：:In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics. ...

journal_title：Molecular genetics & genomic medicine

authors： Cotignola J,Rozental S,Buzzalino N,Dain L

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Preeclampsia (PE) is a pregnancy-related hypertensive disorder, which may stem from impair placentation. Renin-angiotensin system is one of the mediators of decidualization and trophoblastic proliferation. In the present study women with PE were studied in a comparison of normotensive controls to determine w...

journal_title：Molecular genetics & genomic medicine

authors： Shaheen G,Sajid S,Razak S,Mazhar SB,Afsar T,Almajwal A,Alam I,Jahan S

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in ...

journal_title：Molecular genetics & genomic medicine

authors： Laadhar S,Ben Mansour R,Marrakchi S,Miled N,Ennouri M,Fischer J,Kaddechi MA,Turki H,Fakhfakh F

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. METHODS:Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were perfor...

journal_title：Molecular genetics & genomic medicine

authors： Chen W,Li X,Sun L,Sheng W,Huang G

更新日期：2019-08-01 00:00:00

abstract：:The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated ...

journal_title：Molecular genetics & genomic medicine

authors： Shibata K,Hozawa A,Tamiya G,Ueki M,Nakamura T,Narimatsu H,Kubota I,Ueno Y,Kato T,Yamashita H,Fukao A,Kayama T,Yamagata University Genomic Cohort Consortiuma.

更新日期：2013-05-01 00:00:00

abstract：:Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and potential areas of development. ...

journal_title：Molecular genetics & genomic medicine

authors： Nutter SC,Gálvez-Peralta M

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cance...

journal_title：Molecular genetics & genomic medicine

authors： Kamiza AB,Hsieh LL,Tang R,Chien HT,Lai CH,Chiu LL,Lo TP,Hung KY,You JF,Wang WC,Hsiung CA,Yeh CC

更新日期：2018-04-17 00:00:00

abstract：BACKGROUND:Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease-causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched-chain α-keto acid dehydrogenase (BCKDH) complex. In the present study, nov...

journal_title：Molecular genetics & genomic medicine

authors： Nguyen TTN,Vu CD,Nguyen NL,Nguyen TTH,Nguyen NK,Nguyen HH

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. ...

journal_title：Molecular genetics & genomic medicine

authors： Gardner RJM,Crozier IG,Binfield AL,Love DR,Lehnert K,Gibson K,Lintott CJ,Snell RG,Jacobsen JC,Jones PP,Waddell-Smith KE,Kennedy MA,Skinner JR

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation ...

journal_title：Molecular genetics & genomic medicine

authors： Xiong Q,Li W,Li P,Zhao Z,Wu C,Xiao H

更新日期：2019-09-01 00:00:00

abstract：:Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas class...

journal_title：Molecular genetics & genomic medicine

authors： Coelho AI,Trabuco M,Ramos R,Silva MJ,Tavares de Almeida I,Leandro P,Rivera I,Vicente JB

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross-link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS:Using NextGen sequencing, we...

journal_title：Molecular genetics & genomic medicine

authors： Velmurugan KR,Michalak P,Kang L,Fonville NC,Garner HR

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molec...

journal_title：Molecular genetics & genomic medicine

authors： Xiang YB,Xu CY,Xu YZ,Li HZ,Zhou LL,Xu XQ,Chen ZH,Tang SH

更新日期：2020-12-01 00:00:00