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::World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.12.1020
更新日期:1993-12-01 00:00:00
abstract::Late onset Huntington's disease is characterised by onset of symptoms after the age of 50 and is usually associated with a milder course. We have analysed the CAG trinucleotide repeat within the HD gene in 133 late onset patients from 107 extended families. The median upper allele size for the CAG repeat was 42 with a...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.12.991
更新日期:1993-12-01 00:00:00
abstract::Recent epidemiological interest has focused on separation of neural tube defects (NTD) into subgroups which may differ pathogenetically and aetiologically, for example, 'upper' and 'lower' spina bifida. In order to validate the use of pathologists' lesion descriptions by epidemiologists and others, a postal survey of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.11.942
更新日期:1993-11-01 00:00:00
abstract::The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.838
更新日期:1993-10-01 00:00:00
abstract::An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.883
更新日期:1993-10-01 00:00:00
abstract::Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.843
更新日期:1993-10-01 00:00:00
abstract::To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocy...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.9.752
更新日期:1993-09-01 00:00:00
abstract::Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.679
更新日期:1993-08-01 00:00:00
abstract::The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, however, have failed to ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.647
更新日期:1993-08-01 00:00:00
abstract::A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.697
更新日期:1993-08-01 00:00:00
abstract::A Familial Ovarian Cancer Register has been established which has recruited primarily through media publicity. In depth semi-structured interviews were carried out with 20 women who had volunteered in order to explore (1) knowledge about the disease, (2) motivations for contacting the Register, and (3) expectations. W...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.575
更新日期:1993-07-01 00:00:00
abstract::Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.613
更新日期:1993-07-01 00:00:00
abstract::Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.6.470
更新日期:1993-06-01 00:00:00
abstract::A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.6.525
更新日期:1993-06-01 00:00:00
abstract::The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.5.385
更新日期:1993-05-01 00:00:00
abstract::We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.30.5.427
更新日期:1993-05-01 00:00:00
abstract::Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.5.369
更新日期:1993-05-01 00:00:00
abstract::Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.4.280
更新日期:1993-04-01 00:00:00
abstract::Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.4.318
更新日期:1993-04-01 00:00:00
abstract::Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucocilia...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.253
更新日期:1993-03-01 00:00:00
abstract::Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.224
更新日期:1993-03-01 00:00:00
abstract::Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.218
更新日期:1993-03-01 00:00:00
abstract::An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial delet...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.30.3.251
更新日期:1993-03-01 00:00:00
abstract::A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.30.1.62
更新日期:1993-01-01 00:00:00
abstract::Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.12.861
更新日期:1992-12-01 00:00:00
abstract::Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.12.853
更新日期:1992-12-01 00:00:00
abstract::The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutations have a high ris...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.11.794
更新日期:1992-11-01 00:00:00
abstract::Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.10.709
更新日期:1992-10-01 00:00:00
abstract::We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.10.747
更新日期:1992-10-01 00:00:00
abstract::We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations cau...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.9.642
更新日期:1992-09-01 00:00:00
abstract::We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.9.669
更新日期:1992-09-01 00:00:00
abstract::Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.8.527
更新日期:1992-08-01 00:00:00
abstract::Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.8.552
更新日期:1992-08-01 00:00:00
abstract::We describe a child with typical features of the 3-M syndrome who presented with acute hydrocephalus owing to haemorrhage from one of two intracranial cerebral vascular aneurysms. We suggest that other children with this disorder should be screened for similar complications. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.6.425
更新日期:1992-06-01 00:00:00
abstract::Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.6.381
更新日期:1992-06-01 00:00:00
abstract::We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.29.5.326
更新日期:1992-05-01 00:00:00
abstract::We report on a sex reversed Japanese child with a 46,X,Yp+ karyotype, minor dysmorphic features, and no testicular development. The Yp+ chromosome was derived by translocation of an Xp fragment (Xp21-Xp22.3) to Yp11.3. This has resulted in deletion of distal part of the Y chromosome pseudoautosomal region (DXYS15-telo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.4.226
更新日期:1992-04-01 00:00:00
abstract::A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, res...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.4.266
更新日期:1992-04-01 00:00:00
abstract::We report the occurrence of progressive Brown-Séquard syndrome as the presenting clinical feature of cervical spondylosis in a young patient with Stickler's syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.3.200
更新日期:1992-03-01 00:00:00
abstract::A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.2.109
更新日期:1992-02-01 00:00:00