Psychosocial issues raised by a familial ovarian cancer register.

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：:X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assign...

journal_title：Journal of medical genetics

authors： Clarke A,Burn J

更新日期：1991-05-01 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:A limited number of studies aimed at investigating the possible association of Y-chromosome haplogroups with microdeletions of the azoospermia factors (AZFs) or with particular infertile phenotypes, but definitive conclusions have not been attained. The main confounding elements in these association studies ...

journal_title：Journal of medical genetics

authors： Arredi B,Ferlin A,Speltra E,Bedin C,Zuccarello D,Ganz F,Marchina E,Stuppia L,Krausz C,Foresta C

更新日期：2007-03-01 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 BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...

journal_title：Journal of medical genetics

authors： McMillan SA,Hill AJ,Graham CA,Nevin NC,Fay AC

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...

journal_title：Journal of medical genetics

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 00:00:00

abstract：:A family study is presented in which the father of a girl with severe cystic fibrosis (CF) was also found to have CF but was mildly affected. He was diagnosed with three positive sweat tests including one after suppression with fludrocortisone. Genetic analysis showed that he is a compound heterozygote with the delta ...

journal_title：Journal of medical genetics

authors： Barreto C,Pinto LM,Duarte A,Lavinha J,Ramsay M

更新日期：1991-06-01 00:00:00

abstract：:Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...

journal_title：Journal of medical genetics

authors： Knight LA,Soon GM,Tan M

更新日期：1993-07-01 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：:Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lac...

journal_title：Journal of medical genetics

authors： Wildin RS,Smyk-Pearson S,Filipovich AH

更新日期：2002-08-01 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：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 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:Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer. OBJECTIVE:To estimate the contribution of large...

journal_title：Journal of medical genetics

authors： Casilli F,Tournier I,Sinilnikova OM,Coulet F,Soubrier F,Houdayer C,Hardouin A,Berthet P,Sobol H,Bourdon V,Muller D,Fricker JP,Capoulade-Metay C,Chompret A,Nogues C,Mazoyer S,Chappuis P,Maillet P,Philippe C,Lortholar

更新日期：2006-09-01 00:00:00

abstract：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 00:00:00

abstract：BACKGROUND:Congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a gener...

journal_title：Journal of medical genetics

authors： Thomas NS,Morris JK,Baptista J,Ng BL,Crolla JA,Jacobs PA

更新日期：2010-02-01 00:00:00

abstract：:DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...

journal_title：Journal of medical genetics

authors： Bernardi F,del Senno L,Barbieri R,Buzzoni D,Gambari R,Marchetti G,Conconi F,Panicucci F,Positano M,Pitruzzello S

更新日期：1985-08-01 00:00:00

abstract：:It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mech...

journal_title：Journal of medical genetics

authors： Bottini E,Carapella E,Cataldi L,Nicotra M,Lucarelli P,Lucarini N,Pascone R,Gloria-Bottini F

更新日期：1981-10-01 00:00:00

abstract：BACKGROUND:The diagnosis of calpainopathy is obtained by identifying calpain-3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain-3 protein quantity is normal because loss-of-function mutations cause its enzymatic inactivation. The ide...

journal_title：Journal of medical genetics

authors： Fanin M,Nascimbeni AC,Angelini C

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...

journal_title：Journal of medical genetics

authors： Capo-Chichi JM,Tcherkezian J,Hamdan FF,Décarie JC,Dobrzeniecka S,Patry L,Nadon MA,Mucha BE,Major P,Shevell M,Bencheikh BO,Joober R,Samuels ME,Rouleau GA,Roux PP,Michaud JL

更新日期：2013-11-01 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：: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：BACKGROUND:Ubiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiq...

journal_title：Journal of medical genetics

authors： Buratti J,Ji L,Keren B,Lee Y,Booke S,Erdin S,Kim SY,Palculict TB,Meiner V,Chae JH,Woods CG,Tam A,Héron D,Cong F,Harel T

更新日期：2020-05-19 00:00:00

abstract：BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...

journal_title：Journal of medical genetics

authors： Smith AC,Mears AJ,Bunker R,Ahmed A,MacKenzie M,Schwartzentruber JA,Beaulieu CL,Ferretti E,FORGE Canada Consortium.,Majewski J,Bulman DE,Celik FC,Boycott KM,Graham GE

更新日期：2014-07-01 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 cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encoding these components can be sufficient to produce a disease phenotype. The implicat...

journal_title：Journal of medical genetics

authors： Schierding W,Horsfield JA,O'Sullivan JM

更新日期：2020-09-11 00:00:00

abstract：:A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, res...

journal_title：Journal of medical genetics

authors： Van Maldergem L,Verloes A,Lejeune L,Gillerot Y

更新日期：1992-04-01 00:00:00

abstract：:A study of the ethnic distribution of families attending genetic clinics in Birmingham has shown a deficit of Afro-Caribbean and Pakistani families. The former may be because of a deficiency of autosomal recessive diseases other than sickle cell disease, but the numbers are too small to be certain of this. The deficit...

journal_title：Journal of medical genetics

authors： Roberts A,Cullen R,Bundey S

更新日期：1996-01-01 00:00:00