Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with the most common forms of EDS, types I and II. Here we characterise a COL5A2 mutation in an EDS II family. Cultured dermal fibroblast...

journal_title：Journal of medical genetics

authors： Richards AJ,Martin S,Nicholls AC,Harrison JB,Pope FM,Burrows NP

更新日期：1998-10-01 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：:DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations...

journal_title：Journal of medical genetics

authors： Pilz D,Quarrell OW,Jones EW

更新日期：1994-04-01 00:00:00

abstract：BACKGROUND:Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN:1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS:Al...

journal_title：Journal of medical genetics

authors： Fuller M,Tucker JN,Lang DL,Dean CJ,Fietz MJ,Meikle PJ,Hopwood JJ

更新日期：2011-06-01 00:00:00

abstract：OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...

journal_title：Journal of medical genetics

authors： Campbell H,Bradshaw N,Davidson R,Dean J,Goudie D,Holloway S,Porteous M

更新日期：2000-09-01 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

authors： Elliott J,Maltby EL,Reynolds B

更新日期：1993-03-01 00:00:00

abstract：:The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...

journal_title：Journal of medical genetics

authors： Nicholls AC,Osse G,Schloon HG,Lenard HG,Deak S,Myers JC,Prockop DJ,Weigel WR,Fryer P,Pope FM

更新日期：1984-08-01 00:00:00

abstract：BACKGROUND:The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We hav...

journal_title：Journal of medical genetics

authors： Codina-Sola M,Costa-Roger M,Pérez-García D,Flores R,Palacios-Verdú MG,Cusco I,Pérez-Jurado LA

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...

journal_title：Journal of medical genetics

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 00:00:00

abstract：OBJECTIVE:Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance assoc...

journal_title：Journal of medical genetics

authors： Rudnik-Schöneborn S,Heller R,Berg C,Betzler C,Grimm T,Eggermann T,Eggermann K,Wirth R,Wirth B,Zerres K

更新日期：2008-10-01 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

authors： Lamon JM,Frykholm BC,Tschudy DP

更新日期：1979-04-01 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

authors： Del Mastro RG,Bundey S,Kilpatrick MW

更新日期：1990-11-01 00:00:00

abstract：:A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining. ...

journal_title：Journal of medical genetics

authors： Docherty Z,Bowser-Riley SM

更新日期：1984-12-01 00:00:00

abstract：:The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...

journal_title：Journal of medical genetics

authors： Cole WG,Chow CW,Bateman JF,Sillence DO

更新日期：1996-11-01 00:00:00

abstract：CONTEXT:In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE:This study aimed to describe the change in the distribution of carrier risk status resulting...

journal_title：Journal of medical genetics

authors： Watson P,Narod SA,Fodde R,Wagner A,Lynch JF,Tinley ST,Snyder CL,Coronel SA,Riley B,Kinarsky Y,Lynch HT

更新日期：2003-08-01 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

authors： Bundey S,Evans K

更新日期：1982-02-01 00:00:00

abstract：BACKGROUND:Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epile...

journal_title：Journal of medical genetics

authors： de Lange IM,Helbig KL,Weckhuysen S,Møller RS,Velinov M,Dolzhanskaya N,Marsh E,Helbig I,Devinsky O,Tang S,Mefford HC,Myers CT,van Paesschen W,Striano P,van Gassen K,van Kempen M,de Kovel CG,Piard J,Minassian BA,Nezar

更新日期：2016-12-01 00:00:00

abstract：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 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

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：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS:Genotype based linkage disequilibrium analysis was conducted using the family based association test (FB...

journal_title：Journal of medical genetics

authors： Warrington A,Vieira AR,Christensen K,Orioli IM,Castilla EE,Romitti PA,Murray JC

更新日期：2006-06-01 00:00:00

abstract：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

journal_title：Journal of medical genetics

authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

更新日期：1990-10-01 00:00:00

abstract：BACKGROUND:Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and B...

journal_title：Journal of medical genetics

authors： Billingsley G,Bin J,Fieggen KJ,Duncan JL,Gerth C,Ogata K,Wodak SS,Traboulsi EI,Fishman GA,Paterson A,Chitayat D,Knueppel T,Millán JM,Mitchell GA,Deveault C,Héon E

更新日期：2010-07-01 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

authors： Litwin A,Merlob P,Grunebaum M

更新日期：1988-05-01 00:00:00

abstract：:Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...

journal_title：Journal of medical genetics

authors： Bröcker-Vriends AH,Mooij PD,van Bel F,Beverstock GC,van de Kamp JJ

更新日期：1986-04-01 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：:A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...

journal_title：Journal of medical genetics

authors： Côté GB,Papadakou-Lagoyanni S,Sbyrakis S

更新日期：1978-12-01 00:00:00

abstract：BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...

journal_title：Journal of medical genetics

authors： Moore SJ,Turnpenny P,Quinn A,Glover S,Lloyd DJ,Montgomery T,Dean JC

更新日期：2000-07-01 00:00:00