Abstract:
:Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Diamond Jdoi
10.1111/cge.12471subject
Has Abstractpub_date
2014-11-01 00:00:00pages
473-4issue
5eissn
0009-9163issn
1399-0004journal_volume
86pub_type
评论,杂志文章abstract::Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13871
更新日期:2021-02-01 00:00:00
abstract::The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00601.x
更新日期:1986-09-01 00:00:00
abstract::An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02617.x
更新日期:1988-07-01 00:00:00
abstract::We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb04442.x
更新日期:1993-04-01 00:00:00
abstract::Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03233.x
更新日期:1992-10-01 00:00:00
abstract::Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12508
更新日期:2015-10-01 00:00:00
abstract::Mediastinal vascular rings cause tracheoesophageal obstruction, resulting in respiratory symptoms and dysphagia in children. Although a large number of children with Rubinstein-Taybi syndrome have frequent respiratory infections and feeding difficulties, there has been no firmly established association between this sy...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb04119.x
更新日期:1995-12-01 00:00:00
abstract::A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb04368.x
更新日期:1984-09-01 00:00:00
abstract::The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...
journal_title:Clinical genetics
pub_type: 杂志文章,meta分析,评审
doi:10.1111/cge.12910
更新日期:2017-02-01 00:00:00
abstract::Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01254.x
更新日期:2009-10-01 00:00:00
abstract::A sibship is reported of three generations of a Jordanian family of normal intelligence with a complex malformation of upper extremity, shoulder and thorax, which is combined with variously expressed congenital heart disease. The deformity consists of a flat glenoid fossa, a hypoplastic scapula, aplasia of the humerus...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03374.x
更新日期:1989-12-01 00:00:00
abstract::The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome,...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.570203.x
更新日期:2000-02-01 00:00:00
abstract::A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other lo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02796.x
更新日期:1987-04-01 00:00:00
abstract::We have studied the role of three polymorphic genes of the renin-angiotensin system (RAS) as independent risk factors for myocardial infarction (MI) and their correlation with three of the major coronary risk factors: serum cholesterol (CH), hypertension (HT) and smoking (SM). A population of 392 men was genotyped for...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2001.600108.x
更新日期:2001-07-01 00:00:00
abstract::The incidence of pancreatic ductal adenocarcinoma (PDAC) is steadily increasing and the annual death-to-incidence ratio approaches one. This is a figure that has not changed for several decades. Surgery remains the only chance of cure; however, only less than 20% of patients are amenable to operative resection. Despit...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12536
更新日期:2015-09-01 00:00:00
abstract::We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mut...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04161.x
更新日期:1994-10-01 00:00:00
abstract::Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00479.x
更新日期:1984-02-01 00:00:00
abstract::The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FO...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.00977.x
更新日期:2008-04-01 00:00:00
abstract::A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02785.x
更新日期:1987-03-01 00:00:00
abstract::Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To date, at least eight isolated autosomal recessive and dominant forms of hypotrichosis loci have been mapped on different human chromosomes, and the co...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01455.x
更新日期:2011-03-01 00:00:00
abstract::A genealogical survey of familial amyloid polyneuropathy in the Arao district of Japan was undertaken, and the data were analysed statistically. The survey revealed 92 patients (46 males and 46 females) in 9 families. Thirty-one of the patients (16 males and 15 females) are alive. For 44 patients, the mean age of onse...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1983-11-01 00:00:00
abstract::A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study h...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00701.x
更新日期:1981-04-01 00:00:00
abstract::Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2009.01175.x
更新日期:2009-04-01 00:00:00
abstract::Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized growth curve for height has never been calculated. Analysis of retrospective growth data on 112 patients with Noonan syndrome has permitted the establishment of preliminary reference growth standards for height for males and fe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00587.x
更新日期:1986-09-01 00:00:00
abstract::Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02765.x
更新日期:1987-01-01 00:00:00
abstract::Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12738
更新日期:2016-05-01 00:00:00
abstract::Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02916.x
更新日期:1989-02-01 00:00:00
abstract::A single mandibular incisor and an unusually narrow mandible and tongue were noted in an 8-year-old moderately retarded boy with 18p- (45, XY, der dic (18) (18qter-p11.2::22p 11.2-qter). While a single maxillary incisor, considered a minor feature of holoprosencephaly, was reported in three cases of 18p-, reduction of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04411.x
更新日期:1994-12-01 00:00:00
abstract::The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5 genes revealed heteroz...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00629.x
更新日期:2006-07-01 00:00:00
abstract::The lipoprotein Lp(a) is associated with increased risk of atherosclerosis and myocardial infarction in humans. Lp(a) is mostly confined to primate species, due to the limited phylogenetic distribution of its distinguishing protein component, apolipoprotein(a) which is a close homolog of plasminogen. The known propert...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1996.tb03281.x
更新日期:1996-04-01 00:00:00