Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites.

abstract：:The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifact...

journal_title：Journal of medical genetics

authors： Hacia JG,Collins FS

更新日期：1999-10-01 00:00:00

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：OBJECTIVE:To identify genetic causes of COACH syndrome BACKGROUND:COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrai...

journal_title：Journal of medical genetics

authors： Doherty D,Parisi MA,Finn LS,Gunay-Aygun M,Al-Mateen M,Bates D,Clericuzio C,Demir H,Dorschner M,van Essen AJ,Gahl WA,Gentile M,Gorden NT,Hikida A,Knutzen D,Ozyurek H,Phelps I,Rosenthal P,Verloes A,Weigand H,Chance

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved ...

journal_title：Journal of medical genetics

authors： Kent L,Emerton J,Bhadravathi V,Weisblatt E,Pasco G,Willatt LR,McMahon R,Yates JR

更新日期：2008-08-01 00:00:00

abstract：:Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1 mutation analysis ...

journal_title：Journal of medical genetics

authors： Upadhyaya M,Maynard J,Osborn M,Huson SM,Ponder M,Ponder BA,Harper PS

更新日期：1995-09-01 00:00:00

abstract：BACKGROUND:Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruptio...

journal_title：Journal of medical genetics

authors： Kim J,Won HH,Kim Y,Choi JR,Yu N,Lee KA

更新日期：2015-10-01 00:00:00

abstract：BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ishii E,Sako M,Ohga S,Furuno K,Suzuki N,Ueda I,Imayoshi M,Yamamoto S,Morimoto A,Takada H,Hara T,Imashuku S,Sasazuki T,Yasukawa M

更新日期：2004-10-01 00:00:00

abstract：BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...

journal_title：Journal of medical genetics

authors： Gui B,Song Y,Su Z,Luo FH,Chen L,Wang X,Chen R,Yang Y,Wang J,Zhao X,Fan L,Liu X,Wang Y,Chen S,Gong C

更新日期：2019-10-01 00:00:00

abstract：:Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms...

journal_title：Journal of medical genetics

authors： Margarit E,Soler A,Carrió A,Oliva R,Costa D,Vendrell T,Rosell J,Ballesta F

更新日期：1998-09-01 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：:Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...

journal_title：Journal of medical genetics

authors： Bridges AB,Faed M,Boxer M,Gray JR,Bundy C,Murray A

更新日期：1992-02-01 00:00:00

abstract：:Pysiological tremor was measured in 14 pairs of monozygotic twins, 14 pairs of dizygotic twins, and 14 pairs of control subjects matched for age and sex. Postural finger tremor was measured in each pair using a sub-miniature accelerometer and subjecting the amplified signals to power spectral analysis. Significant gen...

journal_title：Journal of medical genetics

authors： Tyrer PJ,Kasriel J

更新日期：1975-06-01 00:00:00

abstract：:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p1...

journal_title：Journal of medical genetics

authors： Roberts P,Williams J,Sills MA

更新日期：1989-07-01 00:00:00

abstract：:Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...

journal_title：Journal of medical genetics

authors： Crawfurd M,Dean MF,Hunt DM,Johnson DR,MacDonald RR,Muir H,Wright EA,Wright CR

更新日期：1973-06-01 00:00:00

abstract：:Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...

journal_title：Journal of medical genetics

authors： Timms KM,Edwards FJ,Belmont JW,Yates JR,Gibbs RA

更新日期：1998-08-01 00:00:00

abstract：:The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...

journal_title：Journal of medical genetics

authors： Willcox MC,Weatherall DJ,Clegg JB

更新日期：1975-06-01 00:00:00

abstract：:A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thir...

journal_title：Journal of medical genetics

authors： Norman AM,Upadhyaya M,Thomas NS,Roberts K,Harper PS

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not ...

journal_title：Journal of medical genetics

authors： Browning BL,Annese V,Barclay ML,Bingham SA,Brand S,Büning C,Castro M,Cucchiara S,Dallapiccola B,Drummond H,Ferguson LR,Ferraris A,Fisher SA,Gearry RB,Glas J,Henckaerts L,Huebner C,Knafelz D,Lakatos L,Lakatos PL,La

更新日期：2008-01-01 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：:A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is ...

journal_title：Journal of medical genetics

authors： Couzin DA,Watt JL,Auchterlonie IA

更新日期：1983-10-01 00:00:00

abstract：:A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...

journal_title：Journal of medical genetics

authors： Walker DA,Harper PS,Newcombe RG,Davies K

更新日期：1983-02-01 00:00:00

abstract：BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...

journal_title：Journal of medical genetics

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 00:00:00

abstract：:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AA

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...

journal_title：Journal of medical genetics

authors： Klopocki E,Ott CE,Benatar N,Ullmann R,Mundlos S,Lehmann K

更新日期：2008-06-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 00:00:00

abstract：:Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 lo...

journal_title：Journal of medical genetics

authors： Papaioannou M,Bessant D,Payne A,Bellingham J,Rougas C,Loutradis-Anagnostou A,Gregory-Evans C,Balassopoulou A,Bhattacharya S

更新日期：1998-05-01 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：:Trehalase activity was determined in serum, liver, and kidney in alloxan treated Swiss mice and in homozygous (Ob/Ob, Db/Db) and heterozygous (Ob/+, Db/m+) diabetic mice. Both alloxan and genetic diabetic mice exhibited a large increase in serum and liver trehalase activity with no change in kidney trehalase activity....

journal_title：Journal of medical genetics

authors： Baumann FC,Boizard-Callais F,Labat-Robert J

更新日期：1981-12-01 00:00:00

abstract：BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...

journal_title：Journal of medical genetics

authors： Scott RH,Douglas J,Baskcomb L,Nygren AO,Birch JM,Cole TR,Cormier-Daire V,Eastwood DM,Garcia-Minaur S,Lupunzina P,Tatton-Brown K,Bliek J,Maher ER,Rahman N

更新日期：2008-02-01 00:00:00