Recurrence risks in complex inheritance with special regard to pyloric stenosis.

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：:The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of S...

journal_title：Journal of medical genetics

authors： Vijayalaxmi,Emery AE,Evans HJ

更新日期：1982-04-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：:A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new re...

journal_title：Journal of medical genetics

authors： Kawate N,Kletter GB,Wilson BE,Netzloff ML,Menon KM

更新日期：1995-07-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 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：OBJECTIVES:Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study exa...

journal_title：Journal of medical genetics

authors： O'Sullivan J,Mullaney BG,Bhaskar SS,Dickerson JE,Hall G,O'Grady A,Webster A,Ramsden SC,Black GC

更新日期：2012-05-01 00:00:00

abstract：:Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...

journal_title：Journal of medical genetics

authors： Sampson JR,Janssen LA,Sandkuijl LA

更新日期：1992-12-01 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：BACKGROUND:Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays a key role in cell growth, have r...

journal_title：Journal of medical genetics

authors： Thomson JR,Machado RD,Pauciulo MW,Morgan NV,Humbert M,Elliott GC,Ward K,Yacoub M,Mikhail G,Rogers P,Newman J,Wheeler L,Higenbottam T,Gibbs JS,Egan J,Crozier A,Peacock A,Allcock R,Corris P,Loyd JE,Trembath RC,Nic

更新日期：2000-10-01 00:00:00

abstract：BACKGROUND:Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel w...

journal_title：Journal of medical genetics

authors： Jervis S,Song H,Lee A,Dicks E,Harrington P,Baynes C,Manchanda R,Easton DF,Jacobs I,Pharoah PP,Antoniou AC

更新日期：2015-07-01 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：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：:The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was measured by means of 3H-leucine incorporation and separation of the chain...

journal_title：Journal of medical genetics

authors： Cao A,Furbetta M,Angius A,Ximenes A,Rosatelli C,Tuveri T,Scalas MT,Falchi AM,Angioni G,Caminiti F

更新日期：1982-04-01 00:00:00

abstract：:The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...

journal_title：Journal of medical genetics

authors： Scott JS,Jenkins DM

更新日期：1976-06-01 00:00:00

abstract：:The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...

journal_title：Journal of medical genetics

authors： Werner W,Spiegler AW

更新日期：1988-06-01 00:00:00

abstract：BACKGROUND:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...

journal_title：Journal of medical genetics

authors： Pras E,Mahler O,Kumar V,Frydman M,Gefen N,Pras E,Hejtmancik JF

更新日期：2006-10-01 00:00:00

abstract：:After the publication of evidence of the existence of a DNA polymorphism closely linked to the gene for Huntington's disease, attitudes towards predictive testing for Huntington's disease were evaluated in Belgium in a group of persons who are at risk for the disease and in a smaller group of their partners. The perce...

journal_title：Journal of medical genetics

authors： Evers-Kiebooms G,Cassiman JJ,van den Berghe H

更新日期：1987-05-01 00:00:00

abstract：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：:Chromosome 1 is thought to represent about 6% of the total human genome and the 85 loci so far identified may constitute about 1% of the genes present on this chromosome. The existence of at least 22 loci sufficiently polymorphic in Europeans to be useful as genetic markers has allowed the construction of an elementar...

journal_title：Journal of medical genetics

authors： Povey S,Parrington JM

更新日期：1986-04-01 00:00:00

abstract：:We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations cau...

journal_title：Journal of medical genetics

authors： Cheadle J,Myring J,al-Jader L,Meredith L

更新日期：1992-09-01 00:00:00

abstract：:Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these child...

journal_title：Journal of medical genetics

authors： Brooks AS,Breuning MH,Osinga J,vd Smagt JJ,Catsman CE,Buys CH,Meijers C,Hofstra RM

更新日期：1999-06-01 00:00:00

abstract：:A family is reported which a diabetic woman gave birth to two children with the caudal regression anomalad (CRA). There were no obvious genetic factors. This is the first reported familial case of CRA with maternal diabetes. ...

journal_title：Journal of medical genetics

authors： Stewart JM,Stoll S

更新日期：1979-02-01 00:00:00

abstract：:The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a c...

journal_title：Journal of medical genetics

authors： Davies AF,Mirza G,Flinter F,Ragoussis J

更新日期：1999-09-01 00:00:00

abstract：:We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...

journal_title：Journal of medical genetics

authors： MacDermot KD,Patton MA,Williams MJ,Winter RM

更新日期：1989-06-01 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：:Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh...

journal_title：Journal of medical genetics

authors： Bénit P,Slama A,Cartault F,Giurgea I,Chretien D,Lebon S,Marsac C,Munnich A,Rötig A,Rustin P

更新日期：2004-01-01 00:00:00

abstract：BACKGROUND:Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). Only the first two SNPs have be...

journal_title：Journal of medical genetics

authors： Wang YL,Feng SH,Guo SC,Wei WJ,Li DS,Wang Y,Wang X,Wang ZY,Ma YY,Jin L,Ji QH,Wang JC

更新日期：2013-10-01 00:00:00

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：:Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have tempor...

journal_title：Journal of medical genetics

authors： Votruba M,Moore AT,Bhattacharya SS

更新日期：1998-10-01 00:00:00