Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

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：: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

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：AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 00:00:00

abstract：BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000. Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited. METHODS:We prospectively followed...

journal_title：Journal of medical genetics

authors： Bassett AS,Chow EW,Husted J,Hodgkinson KA,Oechslin E,Harris L,Silversides C

更新日期：2009-05-01 00:00:00

abstract：:Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 co...

journal_title：Journal of medical genetics

authors： Meiner A,Wolf C,Carey N,Okitsu A,Johnson K,Shelbourne P,Kunath B,Sauermann W,Thiele H,Kupferling P

更新日期：1995-08-01 00:00:00

abstract：BACKGROUND:Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE:To perfor...

journal_title：Journal of medical genetics

authors： Garone C,Taylor RW,Nascimento A,Poulton J,Fratter C,Domínguez-González C,Evans JC,Loos M,Isohanni P,Suomalainen A,Ram D,Hughes MI,McFarland R,Barca E,Lopez Gomez C,Jayawant S,Thomas ND,Manzur AY,Kleinsteuber K,Marti

更新日期：2018-08-01 00:00:00

abstract：:Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems...

journal_title：Journal of medical genetics

authors： Jensen H,Warburg M,Sjö O,Schwartz M

更新日期：1995-05-01 00:00:00

abstract：:Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...

journal_title：Journal of medical genetics

authors： Chinnery PF,Mowbray C,Patel SK,Elson JL,Sampson M,Hitman GA,McCarthy MI,Hattersley AT,Walker M

更新日期：2007-06-01 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

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients w...

journal_title：Journal of medical genetics

authors： Slavotinek A,Lee SS,Davis R,Shrit A,Leppig KA,Rhim J,Jasnosz K,Albertson D,Pinkel D

更新日期：2005-09-01 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

authors： Hanssen AM,Fryns JP

更新日期：1995-02-01 00:00:00

abstract：:To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...

journal_title：Journal of medical genetics

authors： Yu B,French JA,Jeremy RW,French P,McTaggart DR,Nicholson MR,Semsarian C,Richmond DR,Trent RJ

更新日期：1998-03-01 00:00:00

abstract：:We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly. ...

journal_title：Journal of medical genetics

authors： Young ID,Madders DJ

更新日期：1987-11-01 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

authors： Hart TC,Gorry MC,Hart PS,Woodard AS,Shihabi Z,Sandhu J,Shirts B,Xu L,Zhu H,Barmada MM,Bleyer AJ

更新日期：2002-12-01 00:00:00

abstract：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：:This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely h...

journal_title：Journal of medical genetics

authors： Ogata T,Muroya K,Matsuo N,Hata J,Fukushima Y,Suzuki Y

更新日期：1997-04-01 00:00:00

abstract：:Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...

journal_title：Journal of medical genetics

authors： Bartsch O,Petersen MB,Stuhlmann I,Mau G,Frantzen M,Schwinger E,Antonarakis SE,Mikkelsen M

更新日期：1994-07-01 00:00:00

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

authors： Doherty D,Parisi MA,Finn LS,Gunay-Aygun M,Al-Mateen M,Bates D,Clericuzio C,Demir H,Dorschner M,van Essen AJ,Gahl WA,Gentile M,Gorden NT,Hikida A,Knutzen D,Ozyurek H,Phelps I,Rosenthal P,Verloes A,Weigand H,Chance

更新日期：2010-01-01 00:00:00

abstract：:The m.8993T-->C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults...

journal_title：Journal of medical genetics

authors： Craig K,Elliott HR,Keers SM,Lambert C,Pyle A,Graves TD,Woodward C,Sweeney MG,Davis MB,Hanna MG,Chinnery PF

更新日期：2007-12-01 00:00:00

abstract：:A study of the ethnic distribution of families attending genetic clinics in Birmingham has shown a deficit of Afro-Caribbean and Pakistani families. The former may be because of a deficiency of autosomal recessive diseases other than sickle cell disease, but the numbers are too small to be certain of this. The deficit...

journal_title：Journal of medical genetics

authors： Roberts A,Cullen R,Bundey S

更新日期：1996-01-01 00:00:00

abstract：:MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirsc...

journal_title：Journal of medical genetics

authors： Mowat DR,Wilson MJ,Goossens M

更新日期：2003-05-01 00:00:00

abstract：:A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...

journal_title：Journal of medical genetics

authors： Fried K,Rosenblatt M,Mundel G

更新日期：1977-04-01 00:00:00

abstract：:A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most m...

journal_title：Journal of medical genetics

authors： Hunter AG

更新日期：1988-12-01 00:00:00

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：:A sequential silver-Giemsa (SG) procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes. A three sub-band division of the q11 band can be identified. The same technique differentially stains the secondary constriction of chro...

journal_title：Journal of medical genetics

authors： Goyanes VJ

更新日期：1980-12-01 00:00:00

abstract：:The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support...

journal_title：Journal of medical genetics

authors： Janerich DT,Piper J

更新日期：1978-04-01 00:00:00

abstract：BACKGROUND:The high prevalence of tobacco use in some developing nations, including Bangladesh, poses several public health challenges for these populations. Smoking behaviour is determined by genetic and environmental factors; however, the genetic determinants of smoking behaviour have not been previously examined in ...

journal_title：Journal of medical genetics

authors： Argos M,Tong L,Pierce BL,Rakibuz-Zaman M,Ahmed A,Islam T,Rahman M,Paul-Brutus R,Rahaman R,Roy S,Jasmine F,Kibriya MG,Ahsan H

更新日期：2014-05-01 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

authors： Roth EF Jr,Schiliro G,Russo A,Musumeci S,Rachmilewitz E,Neske V,Nagel R

更新日期：1980-02-01 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

authors： Read AP,Kerzin-Storrar L,Mountford RC,Elles RG,Harris R

更新日期：1986-12-01 00:00:00