Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer.

abstract：:Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. The di...

journal_title：Journal of medical genetics

authors： Choy FY

更新日期：1988-05-01 00:00:00

abstract：:There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...

journal_title：Journal of medical genetics

authors： Bodrug SE,Roberson JR,Weiss L,Ray PN,Worton RG,Van Dyke DL

更新日期：1990-07-01 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：: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：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 00:00:00

abstract：:A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...

journal_title：Journal of medical genetics

authors： Nielsen KB,Egede F,Mouridsen I,Mohr J

更新日期：1979-12-01 00:00:00

abstract：BACKGROUND:The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression ...

journal_title：Journal of medical genetics

authors： de Laat P,Rodenburg RR,Roeleveld N,Koene S,Smeitink JA,Janssen MC

更新日期：2021-01-01 00:00:00

abstract：BACKGROUND:Somatic mutations are a major driver of cancer development and many have now been identified in various cancer types, but the comprehensive somatic mutation status of the normal tissues matched to tumours has not been revealed. METHOD:We analysed the somatic mutations of whole exome sequencing data in 392 p...

journal_title：Journal of medical genetics

authors： Oh JH,Sung CO

更新日期：2020-07-27 00:00:00

abstract：:A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome. ...

journal_title：Journal of medical genetics

authors： Porfirio B,Valorani MG,Giannotti A,Sabetta G,Dallapiccola B

更新日期：1987-06-01 00:00:00

abstract：:A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormalit...

journal_title：Journal of medical genetics

authors： Lambert D,Nivelon-Chevallier A,Chapuis JL

更新日期：1977-12-01 00:00:00

abstract：BACKGROUND:Smith-Magenis syndrome (SMS) is caused by del(17)(p11.2), including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. In this study, 52...

journal_title：Journal of medical genetics

authors： Williams SR,Girirajan S,Tegay D,Nowak N,Hatchwell E,Elsea SH

更新日期：2010-04-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：:A female child with multiple vertebral and rib abnormalities is described. ...

journal_title：Journal of medical genetics

authors： Young ID,Moore JR

更新日期：1984-02-01 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：BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...

journal_title：Journal of medical genetics

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 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：:Our primary objective was to estimate, by one year and five year intervals, maternal age specific risk rates for Down syndrome among whites and among other races from two different populations, metropolitan Atlanta and south west Ohio, using live birth and prenatally diagnosed cases ascertained during 1970-1989. The f...

journal_title：Journal of medical genetics

authors： Huether CA,Ivanovich J,Goodwin BS,Krivchenia EL,Hertzberg VS,Edmonds LD,May DS,Priest JH

更新日期：1998-06-01 00:00:00

abstract：:A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot w...

journal_title：Journal of medical genetics

authors： Tse K,Temple IK,Baraitser M

更新日期：1990-12-01 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：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：:A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thir...

journal_title：Journal of medical genetics

authors： Norman AM,Upadhyaya M,Thomas NS,Roberts K,Harper PS

更新日期：1989-09-01 00:00:00

abstract：:A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation...

journal_title：Journal of medical genetics

authors： Gustavsson P,Skeppner G,Johansson B,Berg T,Gordon L,Kreuger A,Dahl N

更新日期：1997-09-01 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：: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：:A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...

journal_title：Journal of medical genetics

authors： Zago MA,Costa FF,Bottura C

更新日期：1982-12-01 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：:Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...

journal_title：Journal of medical genetics

authors： Jones KJ,Kim SS,North KN

更新日期：1998-05-01 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：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00