Translocation X;13 in a patient with retinoblastoma.

abstract：BACKGROUND:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...

journal_title：Journal of medical genetics

authors： Bergholdt R,Nerup J,Pociot F

更新日期：2005-01-01 00:00:00

abstract：INTRODUCTION:Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangemen...

journal_title：Journal of medical genetics

authors： Abkevich V,Zharkikh A,Deffenbaugh AM,Frank D,Chen Y,Shattuck D,Skolnick MH,Gutin A,Tavtigian SV

更新日期：2004-07-01 00:00:00

abstract：BACKGROUND:In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. METHODS:A literature search revealed 690 different phenylalanine hydroxylase genotypes in 30...

journal_title：Journal of medical genetics

authors： Danecka MK,Woidy M,Zschocke J,Feillet F,Muntau AC,Gersting SW

更新日期：2015-03-01 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：:The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocri...

journal_title：Journal of medical genetics

authors： Williamson C,Pannett AA,Pang JT,Wooding C,McCarthy M,Sheppard MN,Monson J,Clayton RN,Thakker RV

更新日期：1997-08-01 00:00:00

abstract：:Five single nucleotide polymorphisms (SNPs) associated with thyroid cancer (TC) risk have been reported: rs2910164 (5q24); rs6983267 (8q24); rs965513 and rs1867277 (9q22); and rs944289 (14q13). Most of these associations have not been replicated in independent populations and the combined effects of the SNPs on risk h...

journal_title：Journal of medical genetics

authors： Jones AM,Howarth KM,Martin L,Gorman M,Mihai R,Moss L,Auton A,Lemon C,Mehanna H,Mohan H,Clarke SE,Wadsley J,Macias E,Coatesworth A,Beasley M,Roques T,Martin C,Ryan P,Gerrard G,Power D,Bremmer C,TCUKIN Consortium.

更新日期：2012-03-01 00:00:00

abstract：:It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mech...

journal_title：Journal of medical genetics

authors： Bottini E,Carapella E,Cataldi L,Nicotra M,Lucarelli P,Lucarini N,Pascone R,Gloria-Bottini F

更新日期：1981-10-01 00:00:00

abstract：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 00:00:00

abstract：BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...

journal_title：Journal of medical genetics

authors： Gargiulo M,Tezenas du Montcel S,Jutras MF,Herson A,Cazeneuve C,Durr A

更新日期：2017-08-01 00:00:00

abstract：:Pysiological tremor was measured in 14 pairs of monozygotic twins, 14 pairs of dizygotic twins, and 14 pairs of control subjects matched for age and sex. Postural finger tremor was measured in each pair using a sub-miniature accelerometer and subjecting the amplified signals to power spectral analysis. Significant gen...

journal_title：Journal of medical genetics

authors： Tyrer PJ,Kasriel J

更新日期：1975-06-01 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：:Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known cra...

journal_title：Journal of medical genetics

authors： Reardon W,van Herwerden L,Rose C,Jones B,Malcolm S,Winter RM

更新日期：1994-03-01 00:00:00

abstract：BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...

journal_title：Journal of medical genetics

authors： Rouzier C,Le Guédard-Méreuze S,Fragaki K,Serre V,Miro J,Tuffery-Giraud S,Chaussenot A,Bannwarth S,Caruba C,Ostergaard E,Pellissier JF,Richelme C,Espil C,Chabrol B,Paquis-Flucklinger V

更新日期：2010-10-01 00:00:00

abstract：:A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...

journal_title：Journal of medical genetics

authors： Nutman J,Nissenkorn I,Varsano I,Mimouni M,Goodman RM

更新日期：1981-06-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：BACKGROUND:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...

journal_title：Journal of medical genetics

authors： Edvardson S,Porcelli V,Jalas C,Soiferman D,Kellner Y,Shaag A,Korman SH,Pierri CL,Scarcia P,Fraenkel ND,Segel R,Schechter A,Frumkin A,Pines O,Saada A,Palmieri L,Elpeleg O

更新日期：2013-04-01 00:00:00

abstract：BACKGROUND:Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic...

journal_title：Journal of medical genetics

authors： Carvalho OP,Thornton GK,Hertecant J,Houlden H,Nicholas AK,Cox JJ,Rielly M,Al-Gazali L,Woods CG

更新日期：2011-02-01 00:00:00

abstract：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 00:00:00

abstract：BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...

journal_title：Journal of medical genetics

authors： Antonio Casado J,Callén E,Jacome A,Río P,Castella M,Lobitz S,Ferro T,Muñoz A,Sevilla J,Cantalejo A,Cela E,Cervera J,Sánchez-Calero J,Badell I,Estella J,Dasí A,Olivé T,José Ortega J,Rodriguez-Villa A,Tapia M,Moliné

更新日期：2007-04-01 00:00:00

abstract：:In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective...

journal_title：Journal of medical genetics

authors： Schuster H,Rauh G,Gerl C,Keller C,Wolfram G,Zöllner N

更新日期：1991-12-01 00:00:00

abstract：BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...

journal_title：Journal of medical genetics

authors： Zhang TX,Haller G,Lin P,Alvarado DM,Hecht JT,Blanton SH,Stephens Richards B,Rice JP,Dobbs MB,Gurnett CA

更新日期：2014-05-01 00:00:00

abstract：INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...

journal_title：Journal of medical genetics

authors： Tomlinson IP,Roylance R,Houlston RS

更新日期：2001-02-01 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:Hirschsprung disease (HSCR) is a life-threatening congenital disorder in which the enteric nervous system is completely missing from the distal gut. Recent studies have shown that miR-4516 markedly inhibits cell migration, and as one of its potential targets, MAPK10 functions as a modifier for developing HSC...

journal_title：Journal of medical genetics

authors： Wang Y,Jiang Q,Chakravarti A,Cai H,Xu Z,Wu W,Gu B,Li L,Cai W

更新日期：2020-09-01 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：BACKGROUND:Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a CFH mutation (c.3643C>G; p. Arg1215Gly) in whom a common li...

journal_title：Journal of medical genetics

authors： Sansbury FH,Cordell HJ,Bingham C,Bromilow G,Nicholls A,Powell R,Shields B,Smyth L,Warwicker P,Strain L,Wilson V,Goodship JA,Goodship TH,Turnpenny PD

更新日期：2014-11-01 00:00:00

abstract：:The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, acc...

journal_title：Journal of medical genetics

authors： Spurdle AB,Greville-Heygate S,Antoniou AC,Brown M,Burke L,de la Hoya M,Domchek S,Dörk T,Firth HV,Monteiro AN,Mensenkamp A,Parsons MT,Radice P,Robson M,Tischkowitz M,Tudini E,Turnbull C,Vreeswijk MP,Walker LC,Tavtigi

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathol...

journal_title：Journal of medical genetics

authors： Heo SH,Kang E,Kim YM,Go H,Kim KY,Jung JY,Kang M,Kim GH,Kim JM,Choi IH,Choi JH,Jung SC,Desnick RJ,Yoo HW,Lee BH

更新日期：2017-11-01 00:00:00

abstract：:We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus callosum. She had chronic renal failure requiring maintenance dialysis and significant neurological deficits. Her mother had less severe OFD I associated with polycystic kidneys but her rena...

journal_title：Journal of medical genetics

authors： Connacher AA,Forsyth CC,Stewart WK

更新日期：1987-02-01 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