A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C.

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：:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p1...

journal_title：Journal of medical genetics

authors： Roberts P,Williams J,Sills MA

更新日期：1989-07-01 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：BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...

journal_title：Journal of medical genetics

authors： Smith AC,Mears AJ,Bunker R,Ahmed A,MacKenzie M,Schwartzentruber JA,Beaulieu CL,Ferretti E,FORGE Canada Consortium.,Majewski J,Bulman DE,Celik FC,Boycott KM,Graham GE

更新日期：2014-07-01 00:00:00

abstract：:BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. ...

journal_title：Journal of medical genetics

authors： Depienne C,Trouillard O,Gourfinkel-An I,Saint-Martin C,Bouteiller D,Graber D,Barthez-Carpentier MA,Gautier A,Villeneuve N,Dravet C,Livet MO,Rivier-Ringenbach C,Adam C,Dupont S,Baulac S,Héron D,Nabbout R,Leguern E

更新日期：2010-06-01 00:00:00

abstract：:Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life....

journal_title：Journal of medical genetics

authors： al-Gazali LI,Khalil M,Devadas K

更新日期：1993-06-01 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：:A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were include...

journal_title：Journal of medical genetics

authors： Speed RM,Johnston AW,Evans HJ

更新日期：1976-08-01 00:00:00

abstract：:The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presenc...

journal_title：Journal of medical genetics

authors： Horn N

更新日期：1980-08-01 00:00:00

abstract：BACKGROUND:Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS:Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order ...

journal_title：Journal of medical genetics

authors： Lavoine N,Colas C,Muleris M,Bodo S,Duval A,Entz-Werle N,Coulet F,Cabaret O,Andreiuolo F,Charpy C,Sebille G,Wang Q,Lejeune S,Buisine MP,Leroux D,Couillault G,Leverger G,Fricker JP,Guimbaud R,Mathieu-Dramard M,Jedra

更新日期：2015-11-01 00:00:00

abstract：:A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represen...

journal_title：Journal of medical genetics

authors： Ventruto V,Di Girlamo R,Festa B,Romano A,Sebastio G,Sebastio L

更新日期：1976-10-01 00:00:00

abstract：:The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paterna...

journal_title：Journal of medical genetics

authors： Carothers AD,McAllion SJ,Paterson CR

更新日期：1986-06-01 00:00:00

abstract：:A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...

journal_title：Journal of medical genetics

authors： Losekoot M,Fodde R,Harteveld CL,van Heeren H,Giordano PC,Went LN,Bernini LF

更新日期：1991-04-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 00:00:00

abstract：:A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...

journal_title：Journal of medical genetics

authors： Williams C,Hughes IA

更新日期：1988-03-01 00:00:00

abstract：:The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...

journal_title：Journal of medical genetics

authors： Evans DG,Susnerwala I,Dawson J,Woodward E,Maher ER,Lalloo F

更新日期：2010-10-01 00:00:00

abstract：:Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...

journal_title：Journal of medical genetics

authors： Nellist M,Brook-Carter PT,Connor JM,Kwiatkowski DJ,Johnson P,Sampson JR

更新日期：1993-03-01 00:00:00

abstract：:The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P les...

journal_title：Journal of medical genetics

authors： Emery AE

更新日期：1986-08-01 00:00:00

abstract：:Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an a...

journal_title：Journal of medical genetics

authors： Porteous ME,Burn J,Proctor SJ

更新日期：1992-08-01 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 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：:A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's t...

journal_title：Journal of medical genetics

authors： Valerio D,Lavorgna F,Scalona M,Conte A

更新日期：1993-08-01 00:00:00

abstract：:Recent studies have shown that the G-allele of MDM2 SNP309 (T/G) in the p53 tumour suppressor pathway can accelerate tumorigenesis and alter the risk of various cancers in women and not in men. In this report, data are presented from two independent groups of patients that suggest that the G-allele of SNP309 accelerat...

journal_title：Journal of medical genetics

authors： Bond GL,Menin C,Bertorelle R,Alhopuro P,Aaltonen LA,Levine AJ

更新日期：2006-12-01 00:00:00

abstract：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15. ...

journal_title：Journal of medical genetics

authors： Herweijer TJ,Oorthuys JW,Leschot NJ

更新日期：1988-04-01 00:00:00

abstract：:A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyc...

journal_title：Journal of medical genetics

authors： Pariani S,Buscaglia M,Piantanida M,Simoni G

更新日期：1992-02-01 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：BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...

journal_title：Journal of medical genetics

authors： Türkmen S,Demirhan O,Hoffmann K,Diers A,Zimmer C,Sperling K,Mundlos S

更新日期：2006-05-01 00:00:00

abstract：:The appropriate ABH-gene specified glycosyltransferases in the plasma of the Birmingham chimaera were estimated. These observatiions and the demonstration of A1Leb blood group specific glycosphingolipid in the plasma indicate that the minority population of red blood cells probably represents the true blood groups of ...

journal_title：Journal of medical genetics

authors： Bird GW,Battey DA,Greenwell P,Mortimer CW,Watkins WM,Wingham J

更新日期：1976-02-01 00:00:00

abstract：:Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, ...

journal_title：Journal of medical genetics

authors： Walley AJ,Barth ML,Ellis I,Fensom AH,Harris A

更新日期：1993-04-01 00:00:00