Abstract:
:A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Ventruto V,Di Girlamo R,Festa B,Romano A,Sebastio G,Sebastio Ldoi
10.1136/jmg.13.5.394keywords:
subject
Has Abstractpub_date
1976-10-01 00:00:00pages
394-8issue
5eissn
0022-2593issn
1468-6244journal_volume
13pub_type
杂志文章abstract::Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2016-103842
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101485
更新日期:2013-04-01 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:BACKGROUND:In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. METHODS:A literature search revealed 690 different phenylalanine hydroxylase genotypes in 30...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102621
更新日期:2015-03-01 00:00:00
abstract::The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 life...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.1.16
更新日期:1982-02-01 00:00:00
abstract::The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.11.871
更新日期:1995-11-01 00:00:00
abstract::A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.6.581
更新日期:1986-12-01 00:00:00
abstract::The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a sibling or other appropriate ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.069971
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Multiple morphological abnormalities of the sperm flagella (MMAF) is a kind of severe teratozoospermia. Patients with the MMAF phenotype are infertile and present aberrant spermatozoa with absent, short, coiled, bent and/or irregular flagella. Mutations in several genes can explain approximately 30%-50% of M...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105952
更新日期:2019-10-01 00:00:00
abstract::Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function asso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.4.241
更新日期:2000-04-01 00:00:00
abstract::Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q i...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.3.240
更新日期:1995-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the f...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.2006.044388
更新日期:2007-02-01 00:00:00
abstract:BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101987
更新日期:2014-04-01 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:BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100534
更新日期:2012-02-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.2.134
更新日期:1979-04-01 00:00:00
abstract:BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2005.033530
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101008
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2 mi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106401
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.9.657
更新日期:2003-09-01 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::Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2014-102438
更新日期:2015-02-01 00:00:00
abstract::Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytoge...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.5.353
更新日期:1997-05-01 00:00:00
abstract::A genetic study has been performed on five adrenoleucodystrophy families using DNA probes from Xq28. Members of each family had previously been tested for carrier status using the biochemical assay for very long chain fatty acids (VLCFAs), but several persons at risk had equivocal results. DNA analysis with four DNA p...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.11.670
更新日期:1990-11-01 00:00:00
abstract::Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-08-01 00:00:00
abstract::The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.3.193
更新日期:1996-03-01 00:00:00
abstract:INTRODUCTION:Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often defi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.12.882
更新日期:2002-12-01 00:00:00
abstract::A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.6.483
更新日期:1980-12-01 00:00:00
abstract::The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease. Clinical manifestations of this autosomal recessive syndrome comprise increased bone density, growth failure, intracereb...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.2.115
更新日期:2003-02-01 00:00:00
abstract::The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.1.59
更新日期:1994-01-01 00:00:00