A register based system for gene tracking in Duchenne muscular dystrophy.

abstract：:We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. ...

journal_title：Journal of medical genetics

authors： Vigneron J,Stricker M,Vert P,Rousselot JM,Levy M

更新日期：1991-09-01 00:00:00

abstract：BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...

journal_title：Journal of medical genetics

authors： Yao C,Yang C,Zhao L,Li P,Tian R,Chen H,Guo Y,Huang Y,Zhi E,Zhai J,Sun H,Zhang J,Hong Y,Zhang L,Ji Z,Zhang F,Zhou Z,Li Z

更新日期：2020-09-08 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...

journal_title：Journal of medical genetics

authors： Figueiredo T,Melo US,Pessoa AL,Nobrega PR,Kitajima JP,Correa I,Zatz M,Kok F,Santos S

更新日期：2015-02-01 00:00:00

abstract：BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...

journal_title：Journal of medical genetics

authors： Chu X,Shen M,Xie F,Miao XJ,Shou WH,Liu L,Yang PP,Bai YN,Zhang KY,Yang L,Hua Q,Liu WD,Dong Y,Wang HF,Shi JX,Wang Y,Song HD,Chen SJ,Chen Z,Huang W

更新日期：2013-07-01 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

authors： Meeks M,Walne A,Spiden S,Simpson H,Mussaffi-Georgy H,Hamam HD,Fehaid EL,Cheehab M,Al-Dabbagh M,Polak-Charcon S,Blau H,O'Rawe A,Mitchison HM,Gardiner RM,Chung E

更新日期：2000-04-01 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 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

authors： Heitz D,Devys D,Imbert G,Kretz C,Mandel JL

更新日期：1992-11-01 00:00:00

abstract：:Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...

journal_title：Journal of medical genetics

authors： Plecko B,Zweier M,Begemann A,Mathis D,Schmitt B,Striano P,Baethmann M,Vari MS,Beccaria F,Zara F,Crowther LM,Joset P,Sticht H,Papuc SM,Rauch A

更新日期：2017-12-01 00:00:00

abstract：:In an attempt to relate the age at onset of Huntington's disease to parental factors, the effects of parental onset-age (Po) and the age of the transmitting parent at the birth of a subsequently affected child (Pc) have been examined in a sample of cases ascertained from Victorian kindreds. There was a significant pos...

journal_title：Journal of medical genetics

authors： Brackenridge CJ,Teltscher B

更新日期：1975-03-01 00:00:00

abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

journal_title：Journal of medical genetics

authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

更新日期：1996-08-01 00:00:00

abstract：BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESUL...

journal_title：Journal of medical genetics

authors： Mineri R,Rimoldi M,Burlina AB,Koskull S,Perletti C,Heese B,von Döbeln U,Mereghetti P,Di Meo I,Invernizzi F,Zeviani M,Uziel G,Tiranti V

更新日期：2008-07-01 00:00:00

abstract：:VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo...

journal_title：Journal of medical genetics

authors： Chen Y,Liu Z,Chen J,Zuo Y,Liu S,Chen W,Liu G,Qiu G,Giampietro PF,Wu N,Wu Z

更新日期：2016-07-01 00:00:00

abstract：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...

journal_title：Journal of medical genetics

authors： Crawfurd M,Dean MF,Hunt DM,Johnson DR,MacDonald RR,Muir H,Wright EA,Wright CR

更新日期：1973-06-01 00:00:00

abstract：:New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of these conditions, although this entails the use of several different techniques including globin chain synthesis analysis,...

journal_title：Journal of medical genetics

authors： Weatherall DJ,Old JM,Thein SL,Wainscoat JS,Clegg JB

更新日期：1985-12-01 00:00:00

abstract：BACKGROUND:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We prese...

journal_title：Journal of medical genetics

authors： Laskaratos A,Breza M,Karadima G,Koutsis G

更新日期：2020-06-22 00:00:00

abstract：BACKGROUND:The AZFc region on the human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility and the roles of partial AZFc deletions (gr/gr and b2/b3 deletions) in spermatogenesis are controversial. METHODS:To further...

journal_title：Journal of medical genetics

authors： Zhang F,Lu C,Li Z,Xie P,Xia Y,Zhu X,Wu B,Cai X,Wang X,Qian J,Wang X,Jin L

更新日期：2007-07-01 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

authors： Hodgson SV,Coonar AS,Hanson PJ,Cottrell S,Scriven PN,Jones T,Hawley PR,Wilkinson ML

更新日期：1993-05-01 00:00:00

abstract：:We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts in...

journal_title：Journal of medical genetics

authors： Siciliano L,Fiumara A,Pavone L,Freeman C,Robertson D,Morris CP,Hopwood JJ,Di Natale P,Musumeci S,Horwitz AL

更新日期：1991-06-01 00:00:00

abstract：:True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...

journal_title：Journal of medical genetics

authors： Jalal SM,Dahl R,Erickson L,Zimmerman D,Lindor N

更新日期：1996-03-01 00:00:00

abstract：:We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...

journal_title：Journal of medical genetics

authors： Bougeard G,Sesboüé R,Baert-Desurmont S,Vasseur S,Martin C,Tinat J,Brugières L,Chompret A,de Paillerets BB,Stoppa-Lyonnet D,Bonaïti-Pellié C,Frébourg T,French LFS working group.

更新日期：2008-08-01 00:00:00

abstract：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：:Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1...

journal_title：Journal of medical genetics

authors： Zilber N,Korczyn AD,Kahana E,Fried K,Alter M

更新日期：1984-02-01 00:00:00

abstract：BACKGROUND:Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS:Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryng...

journal_title：Journal of medical genetics

authors： Papon JF,Perrault I,Coste A,Louis B,Gérard X,Hanein S,Fares-Taie L,Gerber S,Defoort-Dhellemmes S,Vojtek AM,Kaplan J,Rozet JM,Escudier E

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND:Dyslipidaemia, a key risk factor for cardiovascular disease (CVD), is strongly influenced by genetic factors. OBJECTIVE:To identify genetic factors affecting blood lipid concentrations and CVD risk factors in the Korean population by a candidate gene association analysis. METHODS:21 single nucleotide polym...

journal_title：Journal of medical genetics

authors： Park MH,Kim N,Lee JY,Park HY

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:There is increasing interest in the influence of host genetic factors on hepatic fibrosis, and whether genetic markers can reliably identify subjects at risk of developing severe disease. We hypothesised that hepatitis C virus (HCV) infected subjects with progressive fibrosis, classified using strict criteri...

journal_title：Journal of medical genetics

authors： Richardson MM,Powell EE,Barrie HD,Clouston AD,Purdie DM,Jonsson JR

更新日期：2005-07-01 00:00:00

abstract：:A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is ...

journal_title：Journal of medical genetics

authors： Couzin DA,Watt JL,Auchterlonie IA

更新日期：1983-10-01 00:00:00

abstract：:Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic marker...

journal_title：Journal of medical genetics

authors： Zhang PL,Chen Y,Zhang CH,Wang YX,Fernandez-Funez P

更新日期：2018-02-01 00:00:00

abstract：:Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Ph...

journal_title：Journal of medical genetics

authors： Lossi AM,Laugier-Anfossi F,Depetris D,Gecz J,Gedeon A,Kooy F,Schwartz C,Mattei MG,Croquette MF,Villard L

更新日期：2002-02-01 00:00:00

abstract：:We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...

journal_title：Journal of medical genetics

authors： Varley JM,McGown G,Thorncroft M,Tricker KJ,Teare MD,Santibanez-Koref MF,Martin J,Birch JM,Evans DG

更新日期：1995-12-01 00:00:00