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 family members has been reassessed using uniform diagnostic criteria and genotypic data extensively checked before analysis under alternative models of locus heterogeneity. One tuberous sclerosis determining locus, accounting for approximately 50% of the families studied, has been found to map in the region of D9S10 on 9q34 but no evidence has been found to support the existence of major loci on 11q or 12q. A locus, or loci, elsewhere in the genome is likely to account for tuberous sclerosis in most non-chromosome 9 linked families.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Sampson JR,Janssen LA,Sandkuijl LAdoi
10.1136/jmg.29.12.861keywords:
subject
Has Abstractpub_date
1992-12-01 00:00:00pages
861-6issue
12eissn
0022-2593issn
1468-6244journal_volume
29pub_type
杂志文章abstract::The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.148
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.2007.052902
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abstract:OBJECTIVE:To identify genetic causes of COACH syndrome BACKGROUND:COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrai...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.2009.067249
更新日期:2010-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101016
更新日期:2012-11-01 00:00:00
abstract::Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohy...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.4.287
更新日期:1997-04-01 00:00:00
abstract::Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.2.81
更新日期:1992-02-01 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:BACKGROUND:Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anae...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106672
更新日期:2020-06-01 00:00:00
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更新日期:1988-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:1991-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.934
更新日期:1997-11-01 00:00:00
abstract::This paper describes the coexistence of genetically determined reduced cholinesterase activity and congenital distichiasis in the same family. The pedigree suggests that these two autosomal dominant diseases are segregated independently and do not show evidence of linkage. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.6.514
更新日期:1976-12-01 00:00:00
abstract::In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with type I hyperlipoprote...
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pub_type: 杂志文章
doi:10.1136/jmg.31.8.622
更新日期:1994-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.6.470
更新日期:1984-12-01 00:00:00
abstract:BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...
journal_title:Journal of medical genetics
pub_type: 杂志文章,meta分析
doi:10.1136/jmg.2008.060897
更新日期:2009-10-01 00:00:00
abstract::We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.2.86
更新日期:1990-02-01 00:00:00
abstract::The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.7.431
更新日期:1989-07-01 00:00:00
abstract::We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion re...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.3.199
更新日期:1983-06-01 00:00:00
abstract:BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.053595
更新日期:2008-02-01 00:00:00
abstract::Human chromosome 9 with a pericentric inversion involving the qh region is considered normal. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Fluorescent in situ hybridisation (FISH) technique using alpha, beta, and satell...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.5.395
更新日期:1996-05-01 00:00:00
abstract::Huntington's disease (HD) is an autosomal dominant condition with almost complete penetrance. The age of onset of the symptoms, however, is variable and depends on the parental origin of the gene. A high proportion of early onset cases inherit the HD gene from their father, whereas a considerable proportion of late on...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.12.805
更新日期:1988-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.37.7.489
更新日期:2000-07-01 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:BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.053207
更新日期:2008-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.34.4.331
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105661
更新日期:2019-11-01 00:00:00
abstract::A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.1.66
更新日期:1992-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.2006.046433
更新日期:2007-03-01 00:00:00
abstract::Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia)....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.2.162
更新日期:1998-02-01 00:00:00
abstract::We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.3.221
更新日期:1984-06-01 00:00:00