Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population.

abstract：:A method is presented of calculating recurrence risks at a disease locus where there is information from flanking marker loci. This method uses output from the computer programme LIPED. Information from carrier detection tests and mutation at the disease locus can be taken into account in certain pedigrees. ...

journal_title：Journal of medical genetics

authors： Winter RM

更新日期：1985-02-01 00:00:00

abstract：BACKGROUND:Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epile...

journal_title：Journal of medical genetics

authors： de Lange IM,Helbig KL,Weckhuysen S,Møller RS,Velinov M,Dolzhanskaya N,Marsh E,Helbig I,Devinsky O,Tang S,Mefford HC,Myers CT,van Paesschen W,Striano P,van Gassen K,van Kempen M,de Kovel CG,Piard J,Minassian BA,Nezar

更新日期：2016-12-01 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: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：: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：:An infant with features of trisomy 10p syndrome was found to have an abnormal chromosome 10: 46, XY, rec(10), dup p, inv(10) (p11q26) mat. The infant's mother was heterozygous for a pericentric inversion involving chromosome 10 (46, XX, inv (10) (p11q26). The infant's derivative chromosome was apparently produced by m...

journal_title：Journal of medical genetics

authors： Lansky-Shafer SC,Daniel WL,Ruiz L

更新日期：1981-02-01 00:00:00

abstract：:The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support...

journal_title：Journal of medical genetics

authors： Janerich DT,Piper J

更新日期：1978-04-01 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：BACKGROUND:Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial feat...

journal_title：Journal of medical genetics

authors： Rivera-Brugués N,Albrecht B,Wieczorek D,Schmidt H,Keller T,Göhring I,Ekici AB,Tzschach A,Garshasbi M,Franke K,Klopp N,Wichmann HE,Meitinger T,Strom TM,Hempel M

更新日期：2011-02-01 00:00:00

abstract：BACKGROUND:Multiple genes have been provisionally associated with Alzheimer's disease, including the coding polymorphisms in exons 8 and 13 in the low density lipoprotein receptor gene (LDLR), situated on chromosome 19p13.2. METHODS:The sample groups consisted of 180 AD patients and 141 control spouses. We carried out...

journal_title：Journal of medical genetics

authors： Cheng D,Huang R,Lanham IS,Cathcart HM,Howard M,Corder EH,Poduslo SE

更新日期：2005-02-01 00:00:00

abstract：BACKGROUND:Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS:We performed exome sequencing in two families with unexplained isolated ...

journal_title：Journal of medical genetics

authors： Heinen CA,de Vries EM,Alders M,Bikker H,Zwaveling-Soonawala N,van den Akker ELT,Bakker B,Hoorweg-Nijman G,Roelfsema F,Hennekam RC,Boelen A,van Trotsenburg ASP,Fliers E

更新日期：2018-10-01 00:00:00

abstract：:We describe the clinical and cytogenetic findings in a child with retinoblastoma and a translocation between chromosomes X and 13. The X;13 translocation in this patient does not involve band 13q14, the assigned locus for retinoblastoma. ...

journal_title：Journal of medical genetics

authors： Ponzio G,Savin E,Cattaneo G,Ghiotti MP,Marra A,Zuffardi O,Danesino C

更新日期：1987-07-01 00:00:00

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：: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

abstract：:Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thi...

journal_title：Journal of medical genetics

authors： Didierjean O,Cancel G,Stevanin G,Dürr A,Bürk K,Benomar A,Lezin A,Belal S,Abada-Bendid M,Klockgether T,Brice A

更新日期：1999-05-01 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：PURPOSE:To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. DESIGN:Observational and experimental study. METHODS:We carried out a phenotypic study of a unique four generation family with nystagmus. We performed gen...

journal_title：Journal of medical genetics

authors： Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CM

更新日期：2003-01-01 00:00:00

abstract：BACKGROUND:Progress has been made in identifying mutations that confer susceptibility to complex diseases, with the prospect that these genetic risks might be used in determining individual disease risk. AIM:To use Crohn disease (CD) as a model of a common complex disorder, and to develop methods to estimate disease r...

journal_title：Journal of medical genetics

authors： Lewis CM,Whitwell SC,Forbes A,Sanderson J,Mathew CG,Marteau TM

更新日期：2007-11-01 00:00:00

abstract：:Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour. ...

journal_title：Journal of medical genetics

authors： Ionescu B,Maximilian C

更新日期：1977-06-01 00:00:00

abstract：:Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a pr...

journal_title：Journal of medical genetics

authors： Maher ER,Webster AR,Richards FM,Green JS,Crossey PA,Payne SJ,Moore AT

更新日期：1996-04-01 00:00:00

abstract：:A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the aut...

journal_title：Journal of medical genetics

authors： Bundey S,Harrison MJ,Marsden CD

更新日期：1975-03-01 00:00:00

abstract：:A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...

journal_title：Journal of medical genetics

authors： Patton MA,McDermot KD,Lake BD,Baraitser M

更新日期：1986-06-01 00:00:00

abstract：BACKGROUND:Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2 mi...

journal_title：Journal of medical genetics

authors： Bergametti F,Viot G,Verny C,Brechard MP,Denier C,Labauge P,Petit P,Nouet A,Viallet F,Chaussenot A,Hervé D,Tournier-Lasserve E,Riant F

更新日期：2020-06-01 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：BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...

journal_title：Journal of medical genetics

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...

journal_title：Journal of medical genetics

authors： Yao C,Yang C,Zhao L,Li P,Tian R,Chen H,Guo Y,Huang Y,Zhi E,Zhai J,Sun H,Zhang J,Hong Y,Zhang L,Ji Z,Zhang F,Zhou Z,Li Z

更新日期：2020-09-08 00:00:00

abstract：:A Familial Ovarian Cancer Register has been established which has recruited primarily through media publicity. In depth semi-structured interviews were carried out with 20 women who had volunteered in order to explore (1) knowledge about the disease, (2) motivations for contacting the Register, and (3) expectations. W...

journal_title：Journal of medical genetics

authors： Green J,Murton F,Statham H

更新日期：1993-07-01 00:00:00

abstract：:The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the...

journal_title：Journal of medical genetics

authors： Ives E,Coffey R,Carter CO

更新日期：1980-04-01 00:00:00

abstract：:World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...

journal_title：Journal of medical genetics

authors：

更新日期：1993-12-01 00:00:00

abstract：:We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...

journal_title：Journal of medical genetics

authors： Telvi L,Pinard JM,Ion R,Sinet PM,Nicole A,Feingold J,Dulac O,Pompidou A,Ponsot G

更新日期：1992-10-01 00:00:00