Abstract:
:The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also considered. It is concluded that there is evidence for a predisposition, probably genetic, operating in some cases, an immunogenetic mechanism in others, and chromosomal factors in a small group.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Scott JS,Jenkins DMdoi
10.1136/jmg.13.3.200subject
Has Abstractpub_date
1976-06-01 00:00:00pages
200-7issue
3eissn
0022-2593issn
1468-6244journal_volume
13pub_type
杂志文章abstract::The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.2.165
更新日期:1975-06-01 00:00:00
abstract:BACKGROUND:The cytokines tumour necrosis factor (TNF)alpha and interleukin (IL)10 have been implicated in the pathogenesis of Crohn's disease (CD), with increased concentrations reported in patients with active disease. However, limited data exist on their effects on disease phenotype in the same population. Certain si...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2004.027425
更新日期:2005-06-01 00:00:00
abstract::As a result of the increasing use of genome wide telomere screening, it has become evident that a significant proportion of people with idiopathic mental retardation have subtle abnormalities involving the telomeres of human chromosomes. However, during the course of these studies, there have also been telomeric imbal...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.10.734
更新日期:2002-10-01 00:00:00
abstract:BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-102992
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years f...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.037929
更新日期:2006-07-01 00:00:00
abstract::A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.31.6.448
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.070565
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.034876
更新日期:2006-10-01 00:00:00
abstract::Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of th...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.25.5.340
更新日期:1988-05-01 00:00:00
abstract:BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102633
更新日期:2014-11-01 00:00:00
abstract::In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). We further evaluated selected SNPs in a replication sample set (83 cases and...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.057356
更新日期:2008-10-01 00:00:00
abstract::Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
abstract::The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.25.6.377
更新日期:1988-06-01 00:00:00
abstract::The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.1.34
更新日期:1980-02-01 00:00:00
abstract::Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.2.116
更新日期:1998-02-01 00:00:00
abstract::A child with ambiguous genitalia, brought up phenotypically male, had a 46,XX/46,XY karyotype. At laparotomy, he had a left sided ovary and uterus, and a right sided scrotal testis. The 46,XX line made up 50% of cells in the blood and 90% of cells in a skin biopsy. There were no cytogenetic polymorphisms. Analysis of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.10.816
更新日期:1994-10-01 00:00:00
abstract:BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101378
更新日期:2013-07-01 00:00:00
abstract::A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.6.437
更新日期:1982-12-01 00:00:00
abstract:BACKGROUND:Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104615
更新日期:2018-02-01 00:00:00
abstract::The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocri...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.8.617
更新日期:1997-08-01 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:BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101680
更新日期:2013-11-01 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:BACKGROUND:The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenes...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100717
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Somatic mutations are a major driver of cancer development and many have now been identified in various cancer types, but the comprehensive somatic mutation status of the normal tissues matched to tumours has not been revealed. METHOD:We analysed the somatic mutations of whole exome sequencing data in 392 p...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-106905
更新日期:2020-07-27 00:00:00
abstract::Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.2.117
更新日期:1995-02-01 00:00:00
abstract::Recently, there have been several molecular studies of trisomic fetuses and liveborns which have examined the parent and meiotic stage of origin of nondisjunction. However, little is known about the possible phenotypic effects of the origin of trisomy. For trisomic spontaneous abortions, no distinct phenotype has been...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.11.924
更新日期:1998-11-01 00:00:00
abstract::The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 00:00:00
abstract::A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.1.50
更新日期:1997-01-01 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