The inheritance of migraine with aura estimated by means of structural equation modelling.

abstract：:PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic var...

journal_title：Journal of medical genetics

authors： Hume S,Nelson TN,Speevak M,McCready E,Agatep R,Feilotter H,Parboosingh J,Stavropoulos DJ,Taylor S,Stockley TL,Canadian College of Medical Geneticists (CCMG).

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...

journal_title：Journal of medical genetics

authors： Wolf N,Quaranta M,Prescott NJ,Allen M,Smith R,Burden AD,Worthington J,Griffiths CE,Mathew CG,Barker JN,Capon F,Trembath RC

更新日期：2008-02-01 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：:Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is des...

journal_title：Journal of medical genetics

authors： Willemsen R,Los F,Mohkamsing S,van den Ouweland A,Deelen W,Galjaard H,Oostra B

更新日期：1997-03-01 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：BACKGROUND:We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous system changes were pre...

journal_title：Journal of medical genetics

authors： Bayoumi R,Saar K,Lee YA,Nürnberg G,Reis A,Nur-E-Kamal M,Al-Gazali LI

更新日期：2001-06-01 00:00:00

abstract：:Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general pop...

journal_title：Journal of medical genetics

authors： Wang ZJ,Churchman M,Avizienyte E,McKeown C,Davies S,Evans DG,Ferguson A,Ellis I,Xu WH,Yan ZY,Aaltonen LA,Tomlinson IP

更新日期：1999-05-01 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：: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：:The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the cra...

journal_title：Journal of medical genetics

authors： Reardon W,Smith A,Honour JW,Hindmarsh P,Das D,Rumsby G,Nelson I,Malcolm S,Adès L,Sillence D,Kumar D,DeLozier-Blanchet C,McKee S,Kelly T,McKeehan WL,Baraitser M,Winter RM

更新日期：2000-01-01 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：INTRODUCTION:Lynch syndrome is known to cause an increased risk of malignancies, including bowel and endometrial cancers. However, the risk of breast cancer associated with mutations in the mismatch repair (MMR) genes that cause Lynch syndrome is still unclear. MATERIALS AND METHODS:This study assesses the cumulative ...

journal_title：Journal of medical genetics

authors： Harkness EF,Barrow E,Newton K,Green K,Clancy T,Lalloo F,Hill J,Evans DG

更新日期：2015-08-01 00:00:00

abstract：:There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...

journal_title：Journal of medical genetics

authors： Farrar GJ,Geraghty MT,Moloney JM,McConnell DJ,Humphries P

更新日期：1988-04-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region...

journal_title：Journal of medical genetics

authors： Wallerstein R,Anderson CE,Hay B,Gupta P,Gibas L,Ansari K,Cowchock FS,Weinblatt V,Reid C,Levitas A,Jackson L

更新日期：1997-03-01 00:00:00

abstract：:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...

journal_title：Journal of medical genetics

authors： Lynch SA,Wang Y,Strachan T,Burn J,Lindsay S

更新日期：2000-08-01 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：:We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...

journal_title：Journal of medical genetics

authors： Krajinovic M,Ivanovic K,Mestroni L,Diklic V,Nikolis J

更新日期：1994-03-01 00:00:00

abstract：:An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...

journal_title：Journal of medical genetics

authors： Young EE,Lariviere WR,Belfer I

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in p...

journal_title：Journal of medical genetics

authors： Lachlan KL,Lucassen AM,Bunyan D,Temple IK

更新日期：2007-09-01 00:00:00

abstract：:We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypog...

journal_title：Journal of medical genetics

authors： Oley CA,Baraitser M,Grant DB

更新日期：1988-03-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：BACKGROUND:We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years f...

journal_title：Journal of medical genetics

authors： Wang QJ,Li QZ,Rao SQ,Lee K,Huang XS,Yang WY,Zhai SQ,Guo WW,Guo YF,Yu N,Zhao YL,Yuan H,Guan J,Leal SM,Han DY,Shen Y

更新日期：2006-07-01 00:00:00

abstract：BACKGROUND:Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD:Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-g...

journal_title：Journal of medical genetics

authors： Le Meur N,Holder-Espinasse M,Jaillard S,Goldenberg A,Joriot S,Amati-Bonneau P,Guichet A,Barth M,Charollais A,Journel H,Auvin S,Boucher C,Kerckaert JP,David V,Manouvrier-Hanu S,Saugier-Veber P,Frébourg T,Dubourg C,Andr

更新日期：2010-01-01 00:00:00

abstract：:Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...

journal_title：Journal of medical genetics

authors： Lammer EJ,Edmonds LD

更新日期：1987-08-01 00:00:00

abstract：:This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease,...

journal_title：Journal of medical genetics

authors： Bundey S,Crews SJ

更新日期：1984-12-01 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 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：:A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...

journal_title：Journal of medical genetics

authors： Monheit A,Francke U,Saunders B,Jones KL

更新日期：1980-10-01 00:00:00

abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

journal_title：Journal of medical genetics

authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

更新日期：1996-08-01 00:00:00

abstract：:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. The condition is characterised by predisposition to benign leiomyomas of the skin and the uterus, renal cell carcinoma (RCC), and uterine leiomyosar...

journal_title：Journal of medical genetics

authors： Lehtonen HJ,Kiuru M,Ylisaukko-Oja SK,Salovaara R,Herva R,Koivisto PA,Vierimaa O,Aittomäki K,Pukkala E,Launonen V,Aaltonen LA

更新日期：2006-06-01 00:00:00