Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

abstract：BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

journal_title：BMC medical genetics

authors： Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

更新日期：2018-06-18 00:00:00

abstract：BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...

journal_title：BMC medical genetics

authors： Møller DV,Pecini R,Gustafsson F,Hassager C,Hedley P,Jespersgaard C,Torp-Pedersen C,Christiansen M,Køber LV,EchoCardiography and Heart Outcome Study Investigators.

更新日期：2010-07-29 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:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...

journal_title：BMC medical genetics

authors： Geelhoed MJ,Steegers EA,Koper JW,van Rossum EF,Moll HA,Raat H,Tiemeier H,Hofman A,Jaddoe VW

更新日期：2010-03-03 00:00:00

abstract：BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...

journal_title：BMC medical genetics

authors： Luzón-Toro B,Espino-Paisán L,Fernández RM,Martín-Sánchez M,Antiñolo G,Borrego S

更新日期：2015-10-05 00:00:00

abstract：BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...

journal_title：BMC medical genetics

authors： Adams GT,Snieder H,McKie VC,Clair B,Brambilla D,Adams RJ,Kutlar F,Kutlar A

更新日期：2003-07-18 00:00:00

abstract：BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...

journal_title：BMC medical genetics

authors： Zhang C,Deng X,Wen Y,He F,Yin F,Peng J

更新日期：2020-11-26 00:00:00

abstract：BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

journal_title：BMC medical genetics

authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

更新日期：2004-10-21 00:00:00

abstract：BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...

journal_title：BMC medical genetics

authors： Zhou Y,Tariq M,He S,Abdullah U,Zhang J,Baig SM

更新日期：2020-07-18 00:00:00

abstract：BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

journal_title：BMC medical genetics

authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

更新日期：2019-02-19 00:00:00

abstract：BACKGROUND:RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of...

journal_title：BMC medical genetics

authors： Núñez-Torres R,Fernández RM,Acosta MJ,Enguix-Riego Mdel V,Marbá M,Carlos de Agustín J,Castaño L,Antiñolo G,Borrego S

更新日期：2011-10-13 00:00:00

abstract：BACKGROUND:Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is known about genetic factors in the host that cause low platelet count in patients with dengue. METH...

journal_title：BMC medical genetics

authors： Dang TN,Naka I,Sa-Ngasang A,Anantapreecha S,Wichukchinda N,Sawanpanyalert P,Patarapotikul J,Tsuchiya N,Ohashi J

更新日期：2016-07-11 00:00:00

abstract：BACKGROUND:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...

journal_title：BMC medical genetics

authors： Dong L,Jensen RV,De Rienzo A,Gordon GJ,Xu Y,Sugarbaker DJ,Bueno R

更新日期：2009-12-31 00:00:00

abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to...

journal_title：BMC medical genetics

authors： Bohlega S,Al Shubili A,Edris A,Alreshaid A,Alkhairallah T,AlSous MW,Farah S,Abu-Amero KK

更新日期：2007-11-09 00:00:00

abstract：BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...

journal_title：BMC medical genetics

authors： Schnakenberg E,Mehles A,Cario G,Rehe K,Seidemann K,Schlegelberger B,Elsner HA,Welte KH,Schrappe M,Stanulla M

更新日期：2005-05-27 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:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...

journal_title：BMC medical genetics

authors： Li X,Yuan M,Song L,Wang Y

更新日期：2020-03-06 00:00:00

abstract：BACKGROUND:Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to...

journal_title：BMC medical genetics

authors： Karmakar A,Goswami R,Saha T,Maitra S,Roychowdhury A,Panda CK,Sinha S,Ray A,Mohanakumar KP,Rajamma U,Mukhopadhyay K

更新日期：2017-10-05 00:00:00

abstract：BACKGROUND:Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. To date, disease mutations have been identified in 29 ...

journal_title：BMC medical genetics

authors： Lin S,Harlalka GV,Hameed A,Reham HM,Yasin M,Muhammad N,Khan S,Baple EL,Crosby AH,Saleha S

更新日期：2018-09-10 00:00:00

abstract：BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...

journal_title：BMC medical genetics

authors： Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HS

更新日期：2020-02-17 00:00:00

abstract：BACKGROUND:Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by det...

journal_title：BMC medical genetics

authors： Suazo J,Tapia JC,Santos JL,Castro VG,Colombo A,Blanco R

更新日期：2011-12-19 00:00:00

abstract：BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...

journal_title：BMC medical genetics

authors： Merkelbach-Bruse S,Dietmaier W,Füzesi L,Gaumann A,Haller F,Kitz J,Krohn A,Mechtersheimer G,Penzel R,Schildhaus HU,Schneider-Stock R,Simon R,Wardelmann E

更新日期：2010-07-04 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:Type 2 diabetes mellitus is increasing dramatically in sub-Saharan Africa, and genetic predisposition is likely involved in that. Yet, genetic variants known to confer increased susceptibility among Caucasians are far from being established in African populations. In Ghanaian adults, we examined associations...

journal_title：BMC medical genetics

authors： Danquah I,Othmer T,Frank LK,Bedu-Addo G,Schulze MB,Mockenhaupt FP

更新日期：2013-09-23 00:00:00

abstract：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...

journal_title：BMC medical genetics

authors： Ahmed NA,Adam I,Elzaki SEG,Awooda HA,Hamdan HZ

更新日期：2019-01-05 00:00:00

abstract：BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...

journal_title：BMC medical genetics

authors： Kume K,Morino H,Miyamoto R,Matsuda Y,Ohsawa R,Kanaya Y,Tada Y,Kurashige T,Kawakami H

更新日期：2020-03-31 00:00:00

abstract：BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...

journal_title：BMC medical genetics

authors： Pickard BS,Hollox EJ,Malloy MP,Porteous DJ,Blackwood DH,Armour JA,Muir WJ

更新日期：2004-08-13 00:00:00

abstract：BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...

journal_title：BMC medical genetics

authors： Knowles JW,Assimes TL,Boerwinkle E,Fortmann SP,Go A,Grove ML,Hlatky M,Iribarren C,Li J,Myers R,Risch N,Sidney S,Southwick A,Volcik KA,Quertermous T

更新日期：2008-04-02 00:00:00

abstract：BACKGROUND:Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fi...

journal_title：BMC medical genetics

authors： Jia T,Zheng Y,Feng C,Yang T,Geng S

更新日期：2020-06-08 00:00:00

abstract：BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...

journal_title：BMC medical genetics

authors： Shen H,Huang H,Luo K,Yi Y,Shi X

更新日期：2019-05-24 00:00:00