Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.

abstract：:A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...

journal_title：Journal of medical genetics

authors： Zago MA,Costa FF,Bottura C

更新日期：1982-12-01 00:00:00

abstract：:We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-...

journal_title：Journal of medical genetics

authors： Ali M,Tunçman G,Cross NC,Vidailhet M,Bökesoy I,Gitzelmann R,Cox TM

更新日期：1994-06-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the f...

journal_title：Journal of medical genetics

authors： Simard J,Dumont M,Moisan AM,Gaborieau V,Malouin H,Durocher F,Chiquette J,Plante M,Avard D,Bessette P,Brousseau C,Dorval M,Godard B,Houde L,INHERIT BRCAs.,Joly Y,Lajoie MA,Leblanc G,Lépine J,Lespérance B,Vézina H,

更新日期：2007-02-01 00:00:00

abstract：BACKGROUND:In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. METHODS:Because Yakuts are considered as a population isolate and the disease is ra...

journal_title：Journal of medical genetics

authors： Maksimova N,Hara K,Miyashia A,Nikolaeva I,Shiga A,Nogovicina A,Sukhomyasova A,Argunov V,Shvedova A,Ikeuchi T,Nishizawa M,Kuwano R,Onodera O

更新日期：2007-12-01 00:00:00

abstract：BACKGROUND:The extent which universally common or population-specific alleles can explain between-population variations in phenotypes is unknown. The heritable coronary heart disease risk factor lipoprotein(a) (Lp(a)) level provides a useful case study of between-population variation, as the aetiology of twofold higher...

journal_title：Journal of medical genetics

authors： Chretien JP,Coresh J,Berthier-Schaad Y,Kao WH,Fink NE,Klag MJ,Marcovina SM,Giaculli F,Smith MW

更新日期：2006-12-01 00:00:00

abstract：:A female child with multiple vertebral and rib abnormalities is described. ...

journal_title：Journal of medical genetics

authors： Young ID,Moore JR

更新日期：1984-02-01 00:00:00

abstract：:The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...

journal_title：Journal of medical genetics

authors： Sillence DO,Chiodo AA,Campbell PE,Cole WG

更新日期：1991-12-01 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：:Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...

journal_title：Journal of medical genetics

authors： Watson ML,Wright AF,Macnicol AM,Allan PL,Clayton JF,Dempster M,Jeremiah SJ,Corney G,Hopkinson DA

更新日期：1987-08-01 00:00:00

abstract：:The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...

journal_title：Journal of medical genetics

authors： Sarri C,Côté GB,Mengreli C,Lambadaridis I,Pantelakis S

更新日期：1988-04-01 00:00:00

abstract：:We identified a large French-Canadian family with 21 cases of breast cancer, including two affected brothers. Segregation of markers from chromosome 13q in this family showed linkage to the BRCA2 gene locus (lod = 3.67 at D13S289). A number of cancers of other types occurred in this family, including three cases of pr...

journal_title：Journal of medical genetics

authors： Tonin P,Ghadirian P,Phelan C,Lenoir GM,Lynch HT,Letendre F,Belanger D,Monté M,Narod SA

更新日期：1995-12-01 00:00:00

abstract：:In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children ...

journal_title：Journal of medical genetics

authors： Morton JE,Bundey S,Webb TP,MacDonald F,Rindl PM,Bullock S

更新日期：1997-01-01 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：:We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the co...

journal_title：Journal of medical genetics

authors： Bartsch O,Tympner KD,Schwinger E,Gorlin RJ

更新日期：1994-09-01 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：AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 00:00:00

abstract：:Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...

journal_title：Journal of medical genetics

authors： Jones KJ,Kim SS,North KN

更新日期：1998-05-01 00:00:00

abstract：:In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective...

journal_title：Journal of medical genetics

authors： Schuster H,Rauh G,Gerl C,Keller C,Wolfram G,Zöllner N

更新日期：1991-12-01 00:00:00

abstract：BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...

journal_title：Journal of medical genetics

authors： Roos L,Jønch AE,Kjaergaard S,Taudorf K,Simonsen H,Hamborg-Petersen B,Brøndum-Nielsen K,Kirchhoff M

更新日期：2009-10-01 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 non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...

journal_title：Journal of medical genetics

authors： Scott DA,Hernandez-Garcia A,Azamian MS,Jordan VK,Kim BJ,Starkovich M,Zhang J,Wong LJ,Darilek SA,Breman AM,Yang Y,Lupski JR,Jiwani AK,Das B,Lalani SR,Iglesias AD,Rosenfeld JA,Xia F

更新日期：2017-01-01 00:00:00

abstract：:Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect co...

journal_title：Journal of medical genetics

authors： Labrune P,Huguet P,Alagille D,Odievre M

更新日期：1991-02-01 00:00:00

abstract：:Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...

journal_title：Journal of medical genetics

authors： Veenema H,Veenema T,Geraedts JP

更新日期：1987-01-01 00:00:00

abstract：PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and...

journal_title：Journal of medical genetics

authors： Edgar J,Bao A,Maga T,Schwartz M,Yates C,Spencer S

更新日期：2020-12-21 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 00:00:00

abstract：:We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, ...

journal_title：Journal of medical genetics

authors： Moore SJ,Strain L,Cole GF,Miedzybrodzka Z,Kelly KF,Dean JC

更新日期：1999-07-01 00:00:00

abstract：:Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems...

journal_title：Journal of medical genetics

authors： Jensen H,Warburg M,Sjö O,Schwartz M

更新日期：1995-05-01 00:00:00

abstract：:Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...

journal_title：Journal of medical genetics

authors： al-Imara L,Richards AJ,Eady RA,Leigh IM,Farrall M,Pope FM

更新日期：1992-06-01 00:00:00

abstract：:An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal,...

journal_title：Journal of medical genetics

authors： Ho CK,Kaufman RL,Podos SM

更新日期：1975-09-01 00:00:00

abstract：BACKGROUND:Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic...

journal_title：Journal of medical genetics

authors： Carvalho OP,Thornton GK,Hertecant J,Houlden H,Nicholas AK,Cox JJ,Rielly M,Al-Gazali L,Woods CG

更新日期：2011-02-01 00:00:00