The sex ratio in anencephaly.

abstract：:Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease...

journal_title：Journal of medical genetics

authors： Williamson M,Cragg H,Grant J,Kretz K,O'Brien J,Willems PJ,Young E,Winchester B

更新日期：1993-03-01 00:00:00

abstract：:X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two ...

journal_title：Journal of medical genetics

authors： Watkiss E,Webb T,Rysiecki G,Girdler N,Hewett E,Bundey S

更新日期：1994-10-01 00:00:00

abstract：BACKGROUND:Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS:DNA samples from 1445 unrelated patients submitted consecutively for clinical arra...

journal_title：Journal of medical genetics

authors： Miller DT,Shen Y,Weiss LA,Korn J,Anselm I,Bridgemohan C,Cox GF,Dickinson H,Gentile J,Harris DJ,Hegde V,Hundley R,Khwaja O,Kothare S,Luedke C,Nasir R,Poduri A,Prasad K,Raffalli P,Reinhard A,Smith SE,Sobeih MM,S

更新日期：2009-04-01 00:00:00

abstract：:We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. ...

journal_title：Journal of medical genetics

authors： Vigneron J,Stricker M,Vert P,Rousselot JM,Levy M

更新日期：1991-09-01 00:00:00

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：: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：: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：BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...

journal_title：Journal of medical genetics

authors： Gargiulo M,Tezenas du Montcel S,Jutras MF,Herson A,Cazeneuve C,Durr A

更新日期：2017-08-01 00:00:00

abstract：INTRODUCTION:We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS:Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromo...

journal_title：Journal of medical genetics

authors： Yamazawa K,Nakabayashi K,Kagami M,Sato T,Saitoh S,Horikawa R,Hizuka N,Ogata T

更新日期：2010-11-01 00:00:00

abstract：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 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：:Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on t...

journal_title：Journal of medical genetics

authors： Lane RJ,Robinow M,Roses AD

更新日期：1983-02-01 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：:A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,X...

journal_title：Journal of medical genetics

authors： Niazi M,Coleman DV,Saldaña-Garcia P

更新日期：1978-04-01 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：BACKGROUND:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...

journal_title：Journal of medical genetics

authors： Bergholdt R,Nerup J,Pociot F

更新日期：2005-01-01 00:00:00

abstract：:We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly. ...

journal_title：Journal of medical genetics

authors： Connor JM,Rae PS,Connor RA

更新日期：1986-08-01 00:00:00

abstract：:Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic marker...

journal_title：Journal of medical genetics

authors： Zhang PL,Chen Y,Zhang CH,Wang YX,Fernandez-Funez P

更新日期：2018-02-01 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:Pulmonary fibrosis is a complex disease for which the predisposing genetic variants remain unknown. In a prior study, susceptibility to bleomycin induced pulmonary fibrosis was mapped to loci Blmpf1 and Blmpf2 on chromosomes 17 and 11, respectively, in a C57BL/6J (B6, susceptible) and C3Hf/KAM (C3H, resistan...

journal_title：Journal of medical genetics

authors： Haston CK,Tomko TG,Godin N,Kerckhoff L,Hallett MT

更新日期：2005-06-01 00:00:00

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 00:00:00

abstract：:X chromosome inactivation is widely studied using DNA sequence polymorphisms and DNA methylation as a surrogate measure of inactivation, but the correlation of methylation with inactivation is not perfect. Thus, it may be better to study sequence polymorphisms expressed in the mRNA. A recent paper reported use of a si...

journal_title：Journal of medical genetics

authors： Mortazavi Y,Chopra R,Gordon-Smith EC,Rutherford TR

更新日期：1997-12-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...

journal_title：Journal of medical genetics

authors： Figueiredo T,Melo US,Pessoa AL,Nobrega PR,Kitajima JP,Correa I,Zatz M,Kok F,Santos S

更新日期：2015-02-01 00:00:00

abstract：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the conditio...

journal_title：Journal of medical genetics

authors： Beales PL,Elcioglu N,Woolf AS,Parker D,Flinter FA

更新日期：1999-06-01 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：: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：:A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormalit...

journal_title：Journal of medical genetics

authors： Lambert D,Nivelon-Chevallier A,Chapuis JL

更新日期：1977-12-01 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：:We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with ...

journal_title：Journal of medical genetics

authors： Fagan K,Kennedy C,Roddick L,Colley A

更新日期：1994-09-01 00:00:00