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你正在浏览European Journal of Medical Genetics期刊下所有文献
  • Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

    abstract：:Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy enco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.07.018

    authors： Kawai M,Tsutsumi M,Suzuki F,Sameshima K,Dowa Y,Kyoya T,Inagaki H,Kurahashi H

    更新日期：2019-03-01 00:00:00

  • LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

    abstract：:Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.07.003

    authors： Imbert-Bouteille M,Mau Them FT,Thevenon J,Guignard T,Gatinois V,Riviere JB,Boland A,Meyer V,Deleuze JF,Sanchez E,Apparailly F,Geneviève D,Willems M

    更新日期：2019-03-01 00:00:00

  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

    abstract：:The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microdupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.06.010

    authors： Qiao Y,Bagheri H,Tang F,Badduke C,Martell S,Lewis SME,Robinson W,Connolly MB,Arbour L,Rajcan-Separovic E

    更新日期：2019-02-01 00:00:00

  • Oro-dental phenotype in patients with RUNX2 duplication.

    abstract：:Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.05.019

    authors： Merametdjian L,Prud'Homme T,Le Caignec C,Isidor B,Lopez-Cazaux S

    更新日期：2019-02-01 00:00:00

  • Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation: Review of 11344 consecutive cases in a university hospital.

    abstract：BACKGROUND:Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is nowadays an accurate and safe detection method. The objective of this study is to report the feasibility of cf...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.06.012

    authors： Qian YQ,Wang XQ,Chen M,Luo YQ,Yan K,Yang YM,Liu B,Wang LY,Huang YZ,Li HG,Pan HY,Jin F,Dong MY

    更新日期：2019-02-01 00:00:00

  • Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

    abstract：:Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the a...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.04.003

    authors： Vaeth S,Christensen R,Dunø M,Lildballe DL,Thorsen K,Vissing J,Svenstrup K,Hertz JM,Andersen H,Jensen UB

    更新日期：2019-01-01 00:00:00

  • Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

    abstract：:Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- an...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.12.007

    authors： Peikert K,Danek A,Hermann A

    更新日期：2018-11-01 00:00:00

  • Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

    abstract：:Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.03.011

    authors： Invernizzi F,Zorzi G,Legati A,Coppola G,D'Adamo P,Nardocci N,Garavaglia B,Ghezzi D

    更新日期：2018-10-01 00:00:00

  • Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

    abstract：:Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.05.012

    authors： Best KE,Glinianaia SV,Lingam R,Morris JK,Rankin J

    更新日期：2018-09-01 00:00:00

  • Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

    abstract：:Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2018.03.002

    authors： Moortgat S,Lederer D,Deprez M,Buzatu M,Clapuyt P,Boulanger S,Benoit V,Mary S,Guichet A,Ziegler A,Colin E,Bonneau D,Maystadt I

    更新日期：2018-08-01 00:00:00

  • Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

    abstract：:We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.03.009

    authors： Bayat A,Kirchhoff M,Madsen CG,Kreiborg S

    更新日期：2018-08-01 00:00:00

  • Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

    abstract：:Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.01.005

    authors： Paderova J,Drabova J,Holubova A,Vlckova M,Havlovicova M,Gregorova A,Pourova R,Romankova V,Moslerova V,Geryk J,Norambuena P,Krulisova V,Krepelova A,Macek M Sr,Macek M Jr

    更新日期：2018-06-01 00:00:00

  • Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

    abstract：:Germline mutations in the WT1 gene have been identified in some families with Wilms tumor. Recently, the CTR9 gene was found to be mutated in three families with Wilms tumor, thus representing a novel predisposition gene for this disease. We identified a family with a history of Wilms tumor characterized by three affe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.010

    authors： Martins AG,Pinto AT,Domingues R,Cavaco BM

    更新日期：2018-05-01 00:00:00

  • A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.

    abstract：:Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial g...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.003

    authors： Qiao XH,Wang Q,Wang J,Liu XY,Xu YJ,Huang RT,Xue S,Li YJ,Zhang M,Qu XK,Li RG,Qiu XB,Yang YQ

    更新日期：2018-04-01 00:00:00

  • Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

    abstract：:Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. T...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.11.007

    authors： Recalcati MP,Bonati MT,Beltrami N,Cardarelli L,Catusi I,Costa A,Garzo M,Mammi I,Mattina T,Nalesso E,Nardone AM,Postorivo D,Sajeva A,Varricchio A,Verri A,Villa N,Larizza L,Giardino D

    更新日期：2018-03-01 00:00:00

  • 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

    abstract：:Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.10.018

    authors： Vande Perre P,Zazo Seco C,Patat O,Bouneau L,Vigouroux A,Bourgeois D,El Hout S,Chassaing N,Calvas P

    更新日期：2018-02-01 00:00:00

  • New ocular finding in Baraitser-Winter syndrome (BWS).

    abstract：:Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Bar...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.10.006

    authors： Rall N,Leon A,Gomez R,Daroca J,Lacassie Y

    更新日期：2018-01-01 00:00:00

  • Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

    abstract：:Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WN...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.09.005

    authors： Kantaputra PN,Kapoor S,Verma P,Kaewgahya M,Kawasaki K,Ohazama A,Ketudat Cairns JR

    更新日期：2017-12-01 00:00:00

  • Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

    abstract：:Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.07.008

    authors： Takano K,Goto K,Motobayashi M,Wakui K,Kawamura R,Yamaguchi T,Fukushima Y,Kosho T

    更新日期：2017-10-01 00:00:00

  • A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

    abstract：:Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose ch...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.06.006

    authors： Miura S,Morikawa T,Fujioka R,Noda K,Kosaka K,Taniwaki T,Shibata H

    更新日期：2017-09-01 00:00:00

  • High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

    abstract：:Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and th...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.06.007

    authors： Rath M,Jenssen SE,Schwefel K,Spiegler S,Kleimeier D,Sperling C,Kaderali L,Felbor U

    更新日期：2017-09-01 00:00:00

  • In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.

    abstract：:Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into well-characterised variants which are...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.03.008

    authors： Oliver C,Timson DJ

    更新日期：2017-06-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    abstract：:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.03.006

    authors： Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期：2017-06-01 00:00:00

  • Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

    abstract：:The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.02.003

    authors： Kharbanda M,Hunter A,Tennant S,Moore D,Curtis S,Hancox JC,Murday V

    更新日期：2017-05-01 00:00:00

  • Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.

    abstract：INTRODUCTION:Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP beco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.01.003

    authors： Even-Zohar Gross N,Geva-Eldar T,Pollak Y,Hirsch HJ,Gross I,Gross-Tsur V

    更新日期：2017-04-01 00:00:00

  • Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

    abstract：:Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five health...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.11.003

    authors： Langdahl JH,Frederiksen AL,Nguyen N,Brusgaard K,Juhl CB

    更新日期：2017-02-01 00:00:00

  • The impact of thalidomide use in birth defects in Brazil.

    abstract：:Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Braz...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.015

    authors： Sales Luiz Vianna F,Kowalski TW,Fraga LR,Sanseverino MT,Schuler-Faccini L

    更新日期：2017-01-01 00:00:00

  • A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.

    abstract：:Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.10.002

    authors： Kekis M,Hashimoto S,Deeg C,Calloway I,McKinney A,Shuss C,Hickey S,Astbury C

    更新日期：2016-11-01 00:00:00

  • 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    abstract：:There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited cl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.008

    authors： Shimojima K,Narai S,Togawa M,Doumoto T,Sangu N,Vanakker OM,de Paepe A,Edwards M,Whitehall J,Brescianini S,Petit F,Andrieux J,Yamamoto T

    更新日期：2016-10-01 00:00:00

  • Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

    abstract：BACKGROUND:Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), kn...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.08.003

    authors： Breckpot J,Vercruyssen M,Weyts E,Vandevoort S,D'Haenens G,Van Buggenhout G,Leempoels L,Brischoux-Boucher E,Van Maldergem L,Renieri A,Mencarelli MA,D'Angelo C,Mericq V,Hoffer MJ,Tauber M,Molinas C,Castiglioni C,Brison N

    更新日期：2016-09-01 00:00:00

  • Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

    abstract：INTRODUCTION:Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carrie...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.004

    authors： Yi Z,Pan H,Li L,Wu H,Wang S,Ma Y,Qi Y

    更新日期：2016-06-01 00:00:00

  • A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

    abstract：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.007

    authors： Rafati M,Mohamadhashem F,Hoseini A,Hoseininasab F,Ghaffari SR

    更新日期：2016-06-01 00:00:00

  • A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

    abstract：:CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unu...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.02.012

    authors： Wells C,Loundon N,Garabedian N,Wiener-Vacher S,Cordier-Bouvier MD,Goudeffroye G,Attié-Bitach T,Marlin S

    更新日期：2016-04-01 00:00:00

  • Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

    abstract：:In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased ri...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2016.01.006

    authors： Harrison CJ,Schwab C

    更新日期：2016-03-01 00:00:00

  • Genetic polymorphisms in the DNA repair gene, XRCC1 associate with non-Hodgkin lymphoma susceptibility: A systematic review and meta-analysis.

    abstract：:A DNA repair protein, X-ray repair cross-complementing group 1 (XRCC1), has been implicated in the development of multiple cancers, including non-Hodgkin lymphoma (NHL). Recent studies evaluating the association between XRCC1 polymorphisms and NHL risk have been published. However, the published studies are controvers...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,meta分析,评审

    doi：10.1016/j.ejmg.2015.12.011

    authors： Li Y,Bai O,Cui J,Li W

    更新日期：2016-02-01 00:00:00

  • Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.

    abstract：:Familial Mediterranean fever (FMF) is a recessive autoinflammatory disorder. The balance between the pro-inflammatory cytokine IL-1β and its receptor antagonist IL-1RA plays an important role in the development of FMF. In order to determine a possible association of polymorphisms in IL-1β and IL-1RA genes with occurre...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.11.007

    authors： Ibrahim JN,Chouery E,Lecron JC,Mégarbané A,Medlej-Hashim M

    更新日期：2015-12-01 00:00:00

  • Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

    abstract：:De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals. This has prompted us to look for non-pathogenic LOF variants in other ID genes. Heterozy...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2015.10.007

    authors： Ropers HH,Wienker T

    更新日期：2015-12-01 00:00:00

  • Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

    abstract：BACKGROUND:Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2015.11.005

    authors： Capo-Chichi JM,Mehawej C,Delague V,Caillaud C,Khneisser I,Hamdan FF,Michaud JL,Kibar Z,Mégarbané A

    更新日期：2015-12-01 00:00:00

  • Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

    abstract：:Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD fr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.10.002

    authors： Li X,Ding Y,Liu Y,Ma Y,Song J,Wang Q,Li M,Qin Y,Yang Y

    更新日期：2015-11-01 00:00:00

  • HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

    abstract：:A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.06.004

    authors： Millat G,Janin A,de Tauriac O,Roux A,Dauphin C

    更新日期：2015-09-01 00:00:00

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