解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the ph...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2021.104140
更新日期:2021-01-29 00:00:00
abstract::Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypo...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2021.104136
更新日期:2021-01-12 00:00:00
abstract::Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal ha...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104097
更新日期:2021-01-01 00:00:00
abstract::Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104102
更新日期:2021-01-01 00:00:00
abstract::The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy ha...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104121
更新日期:2021-01-01 00:00:00
abstract::Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor phy...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104009
更新日期:2020-11-01 00:00:00
abstract::Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with reces...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103981
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104001
更新日期:2020-09-01 00:00:00
abstract::Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epile...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103970
更新日期:2020-09-01 00:00:00
abstract::Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have al...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103954
更新日期:2020-08-01 00:00:00
abstract::Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and st...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103952
更新日期:2020-08-01 00:00:00
abstract::The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairme...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103897
更新日期:2020-06-01 00:00:00
abstract:INTRODUCTION:Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. M...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2020.103873
更新日期:2020-05-01 00:00:00
abstract::Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recur...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103780
更新日期:2020-04-01 00:00:00
abstract:PURPOSE:To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring. METHODS:CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103829
更新日期:2020-04-01 00:00:00
abstract::Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investiga...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103845
更新日期:2020-04-01 00:00:00
abstract::An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.103848
更新日期:2020-04-01 00:00:00
abstract::Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103805
更新日期:2020-04-01 00:00:00
abstract::Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103772
更新日期:2020-04-01 00:00:00
abstract::Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103812
更新日期:2020-04-01 00:00:00
abstract::Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2019.103756
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103767
更新日期:2020-03-01 00:00:00
abstract::SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of thre...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103738
更新日期:2020-03-01 00:00:00
abstract::Genomic instability is widespread during early embryo development. Aneuploidy, mosaicism, and copy number variants (CNVs) commonly appear in human preimplantation embryos. Both age-dependent meiotic aneuploidy and age-independent mitotic aneuploidy and CNVs occur In human embryos. Telomere attrition, which contributes...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2019.03.002
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has previously been regarded as rare but the increased availability of genetic testing in recent years ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.04.015
更新日期:2020-02-01 00:00:00
abstract::Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.02.008
更新日期:2020-01-01 00:00:00
abstract::Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.02.007
更新日期:2020-01-01 00:00:00
abstract::Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.12.003
更新日期:2019-12-01 00:00:00
abstract::We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of t...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.11.004
更新日期:2019-11-01 00:00:00
abstract::Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), va...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.11.012
更新日期:2019-11-01 00:00:00
abstract::Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the most common cobalamin metabolic disorder. Its clinical phenotype involves multiple systems with varying degrees of severity, where in mild cases can be asymptomatic for many years, whereas severe cases may cause death during the ...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2019.103713
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta (TGFβ) signaling-related genes. LDS types 1-6 are distinguished depending on the involved gene. LDS is characterized by multiple arterial aneurysms and d...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103727
更新日期:2019-10-01 00:00:00
abstract::Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.10.003
更新日期:2019-09-01 00:00:00
abstract::Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.09.010
更新日期:2019-09-01 00:00:00
abstract::Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination ...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2018.10.012
更新日期:2019-09-01 00:00:00
abstract::A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identifie...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.09.006
更新日期:2019-09-01 00:00:00
abstract::Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103690
更新日期:2019-08-01 00:00:00
abstract::Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.3...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.01.018
更新日期:2019-07-01 00:00:00
abstract:PURPOSE:Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years. METHODS:Retrospective review of medical records of patients seen at single center in 10 years. RESU...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.05.005
更新日期:2019-07-01 00:00:00
abstract::The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Phase I: Cognitive interviews were used to explore interpreta...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.11.015
更新日期:2019-05-01 00:00:00