Rapid diagnostic test for the major mutation underlying Batten disease.

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：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：:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...

journal_title：Journal of medical genetics

authors： Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal N

更新日期：1997-11-01 00:00:00

abstract：:A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...

journal_title：Journal of medical genetics

authors： Yatziv S,Epstein CJ

更新日期：1977-12-01 00:00:00

abstract：:A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...

journal_title：Journal of medical genetics

authors： Lalouel JM,Morton NE,MacLean CJ,Jackson J

更新日期：1977-12-01 00:00:00

abstract：:A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...

journal_title：Journal of medical genetics

authors： Hersh JH,Yen FF,Peiper SC,Barch MJ,Yacoub OA,Voss DH,Roberts JL

更新日期：1995-04-01 00:00:00

abstract：BACKGROUND:Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Notably, syndromic POI with Fanconi anae...

journal_title：Journal of medical genetics

authors： Caburet S,Heddar A,Dardillac E,Creux H,Lambert M,Messiaen S,Tourpin S,Livera G,Lopez BS,Misrahi M

更新日期：2020-06-01 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：: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：:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...

journal_title：Journal of medical genetics

authors： Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JP

更新日期：1998-01-01 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：: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：BACKGROUND:The apolipoprotein E (ApoE) polymorphism has been well studied in the adult human population, in part because the e4 allele is a known risk factor for Alzheimer's disease. Little is known of the distribution of ApoE alleles in newborns, and their association with perinatal brain damage has not been investiga...

journal_title：Journal of medical genetics

authors： Becher JC,Keeling JW,McIntosh N,Wyatt B,Bell J

更新日期：2006-05-01 00:00:00

abstract：:Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this condition may be genetic with an autosomal dominant mode of inheritance. ...

journal_title：Journal of medical genetics

authors： Badejo OA

更新日期：1984-04-01 00:00:00

abstract：BACKGROUND:Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruptio...

journal_title：Journal of medical genetics

authors： Kim J,Won HH,Kim Y,Choi JR,Yu N,Lee KA

更新日期：2015-10-01 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：:The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...

journal_title：Journal of medical genetics

authors： Quaife R,al-Gazali L,Abbes S,Fitzgerald P,Fitches A,Valler D,Old JM

更新日期：1994-01-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytoge...

journal_title：Journal of medical genetics

authors： Catchpoole D,Lam WW,Valler D,Temple IK,Joyce JA,Reik W,Schofield PN,Maher ER

更新日期：1997-05-01 00:00:00

abstract：:We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real ti...

journal_title：Journal of medical genetics

authors： Iwaki A,Kawano Y,Miura S,Shibata H,Matsuse D,Li W,Furuya H,Ohyagi Y,Taniwaki T,Kira J,Fukumaki Y

更新日期：2008-01-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 00:00:00

abstract：:Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this rev...

journal_title：Journal of medical genetics

authors： D'Hulst C,Kooy RF

更新日期：2009-09-01 00:00:00

abstract：BACKGROUND:Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and...

journal_title：Journal of medical genetics

authors： Saggar S,Chernoff KA,Lodha S,Horev L,Kohl S,Honjo RS,Brandt HR,Hartmann K,Celebi JT

更新日期：2008-05-01 00:00:00

abstract：:Linkage analysis of neurofibromatosis was performed using genes on chromosomes 1, 8, 11, and 12. No linkage was found between NF and C-myc, AT 3, IGF-1, PTH, and gamma globin genes. Evidence for linkage was found between C-ets 1, on the long arm of chromosome 11 and NF in two families with a lod score of 1.88 at theta...

journal_title：Journal of medical genetics

authors： Kittur S,Lubs ML,Bauer M,Chakravarti A,Kazazian H

更新日期：1987-09-01 00:00:00

abstract：:A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...

journal_title：Journal of medical genetics

authors： McCann SR,Smithwick AM,Temperley IJ,Tipton K

更新日期：1980-06-01 00:00:00

abstract：BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...

journal_title：Journal of medical genetics

authors： Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Drama

更新日期：2012-02-01 00:00:00

abstract：:The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients...

journal_title：Journal of medical genetics

authors： Kelley RI,Hennekam RC

更新日期：2000-05-01 00:00:00

abstract：:Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...

journal_title：Journal of medical genetics

authors： Yates JR,Emery AE

更新日期：1985-08-01 00:00:00

abstract：:A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...

journal_title：Journal of medical genetics

authors： de Die-Smulders CE,Droog RP,van Dijk M,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...

journal_title：Journal of medical genetics

authors： Lintas C,Persico AM

更新日期：2009-01-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...

journal_title：Journal of medical genetics

authors： Pieke Dahl S,Kimberling WJ,Gorin MB,Weston MD,Furman JM,Pikus A,Möller C

更新日期：1993-10-01 00:00:00