Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.

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：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：:We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial...

journal_title：Journal of medical genetics

authors： Pivnick EK,Velagaleti GV,Wilroy RS,Smith ME,Rose SR,Tipton RE,Tharapel AT

更新日期：1996-09-01 00:00:00

abstract：:Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cyto...

journal_title：Journal of medical genetics

authors： Pintado E,de Diego Y,Hmadcha A,Carrasco M,Sierra J,Lucas M

更新日期：1995-11-01 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：:As a result of the increasing use of genome wide telomere screening, it has become evident that a significant proportion of people with idiopathic mental retardation have subtle abnormalities involving the telomeres of human chromosomes. However, during the course of these studies, there have also been telomeric imbal...

journal_title：Journal of medical genetics

authors： Martin CL,Waggoner DJ,Wong A,Uhrig S,Roseberry JA,Hedrick JF,Pack SD,Russell K,Zackai E,Dobyns WB,Ledbetter DH

更新日期：2002-10-01 00:00:00

abstract：BACKGROUND:Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES:Here, we report a 3-year ol...

journal_title：Journal of medical genetics

authors： Balasubramanian M,Padidela R,Pollitt RC,Bishop NJ,Mughal MZ,Offiah AC,Wagner BE,McCaughey J,Stephens DJ

更新日期：2018-03-01 00:00:00

abstract：:Studies of migraine with aura (MA) have shown familial aggregation of the disorder, which cannot be explained by simple mendelian inheritance. The interest in a genetic basis for the disorder has increased after identification of three genetic loci for familial hemiplegic migraine (FHM), which is a rare subtype of MA ...

journal_title：Journal of medical genetics

authors： Ulrich V,Gervil M,Kyvik KO,Olesen J,Russell MB

更新日期：1999-03-01 00:00:00

abstract：:A cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...

journal_title：Journal of medical genetics

authors： Rosenberg NK,Sørensen SA,Christensen AL

更新日期：1995-08-01 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：: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:Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. LRP4 mutations were identified in most, but not all patients with this syndrome, suggesting the presence of at least one additional...

journal_title：Journal of medical genetics

authors： Patel N,Faqeih E,Anazi S,Alfawareh M,Wakil SM,Colak D,Alkuraya FS

更新日期：2015-05-01 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：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 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：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：:Having identified teratogenic factors, primary prevention of congenital defects is possible by the implementation of specific measures in pregnant women or those planning pregnancy. Our current understanding of the epigenetic processes acting during reproductive events raises new possibilities to prevent both heritabl...

journal_title：Journal of medical genetics

authors： Martínez-Frías ML

更新日期：2010-02-01 00:00:00

abstract：BACKGROUND:Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable ren...

journal_title：Journal of medical genetics

authors： Dimitrov BI,Voet T,De Smet L,Vermeesch JR,Devriendt K,Fryns JP,Debeer P

更新日期：2010-08-01 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

abstract：:DNA fingerprinting was performed to verify the pedigree structure of a family under investigation for an unusual case of beta thalassaemia. A higher than expected proportion of hypervariable bands was shared by the proband and his mother, leading to suspicion that the child had been the product of a consanguineous mat...

journal_title：Journal of medical genetics

authors： Wells RA,Wonke B,Thein SL

更新日期：1988-10-01 00:00:00

abstract：BACKGROUND:Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE:To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including cl...

journal_title：Journal of medical genetics

authors： Alvarado DM,McCall K,Hecht JT,Dobbs MB,Gurnett CA

更新日期：2016-04-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 00:00:00

abstract：:A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. ...

journal_title：Journal of medical genetics

authors： Farag TI,al-Awadi SA,Marafie MJ,Bastaki L,al-Othman SA,Mohammed FM,AlSuliman IS,Murthy DS

更新日期：1993-01-01 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：:Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...

journal_title：Journal of medical genetics

authors： King A,Houlden H,Hardy J,Lane R,Chancellor A,de Belleroche J

更新日期：1993-04-01 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

authors： Power MM,James RS,Barber JC,Fisher AM,Wood PJ,Leatherdale BA,Flanagan DE,Hatchwell E

更新日期：1997-04-01 00:00:00

abstract：:A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...

journal_title：Journal of medical genetics

authors： Smith GW,Graham CA,Nevin J,Nevin NC

更新日期：1995-01-01 00:00:00

abstract：:The results of the present investigation have failed to confirm the suggestion that there is a significant increase in the proportion of echinocytes in preparation of fresh erythrocytes in patients with Duchenne muscular dystrophy and heterozygous carriers of this disorder. ...

journal_title：Journal of medical genetics

authors： Soltan HC

更新日期：1977-08-01 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：:X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two ...

journal_title：Journal of medical genetics

authors： Watkiss E,Webb T,Rysiecki G,Girdler N,Hewett E,Bundey S

更新日期：1994-10-01 00:00:00