Lead levels in human placentae from normal and malformed births.

abstract：:Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...

journal_title：Journal of medical genetics

authors： Chinnery PF,Mowbray C,Patel SK,Elson JL,Sampson M,Hitman GA,McCarthy MI,Hattersley AT,Walker M

更新日期：2007-06-01 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：:A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect. ...

journal_title：Journal of medical genetics

authors： Rocchi M,Stormi M,Archidiacono N,Filippi G

更新日期：1979-02-01 00:00:00

abstract：:A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. ...

journal_title：Journal of medical genetics

authors： Turolla L,Clementi M,Tenconi R

更新日期：1990-08-01 00:00:00

abstract：:Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...

journal_title：Journal of medical genetics

authors： Nellist M,Brook-Carter PT,Connor JM,Kwiatkowski DJ,Johnson P,Sampson JR

更新日期：1993-03-01 00:00:00

abstract：:Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrom...

journal_title：Journal of medical genetics

authors： Carlson M,Silberbach M

更新日期：2007-12-01 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：:We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...

journal_title：Journal of medical genetics

authors： Al-Gazali LI,Sztriha L,Punnose J,Shather W,Nork M

更新日期：1999-02-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：OBJECTIVE:Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small mol...

journal_title：Journal of medical genetics

authors： Mauer M,Sokolovskiy A,Barth JA,Castelli JP,Williams HN,Benjamin ER,Najafian B

更新日期：2017-11-01 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：BACKGROUND:Orofacial cleft (OFC) is the most prevalent craniofacial birth defect. Genes involved in one-carbon, folate and vitamin B12 metabolisms have been associated with OFC but no study performed a concomitant assessment on genes involved in these three pathways. OBJECTIVE:We looked for potential genetic variants ...

journal_title：Journal of medical genetics

authors： Goffinet L,Oussalah A,Guéant-Rodriguez RM,Chery C,Basha M,Avogbe PH,Josse T,Jeannesson E,Rouyer P,Flayac J,Gerard P,Le Touze A,Bonin-Goga B,Goga D,Simon E,Feillet F,Vikkula M,Guéant JL

更新日期：2016-12-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...

journal_title：Journal of medical genetics

authors： King A,Houlden H,Hardy J,Lane R,Chancellor A,de Belleroche J

更新日期：1993-04-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...

journal_title：Journal of medical genetics

authors： Lamon JM,Frykholm BC,Tschudy DP

更新日期：1979-04-01 00:00:00

abstract：BACKGROUND:Hirschsprung disease (HSCR) is a life-threatening congenital disorder in which the enteric nervous system is completely missing from the distal gut. Recent studies have shown that miR-4516 markedly inhibits cell migration, and as one of its potential targets, MAPK10 functions as a modifier for developing HSC...

journal_title：Journal of medical genetics

authors： Wang Y,Jiang Q,Chakravarti A,Cai H,Xu Z,Wu W,Gu B,Li L,Cai W

更新日期：2020-09-01 00:00:00

abstract：:​BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history data are important ...

journal_title：Journal of medical genetics

authors： Halliday D,Emmanouil B,Pretorius P,MacKeith S,Painter S,Tomkins H,Evans DG,Parry A

更新日期：2017-10-01 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：:We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutati...

journal_title：Journal of medical genetics

authors： Sato H,Takaya K,Nihira S,Fujita H

更新日期：1989-10-01 00:00:00

abstract：:Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...

journal_title：Journal of medical genetics

authors： Petersen CE,Scottolini AG,Cody LR,Mandel M,Reimer N,Bhagavan NV

更新日期：1994-05-01 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：:Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by tumour-like malformations (hamartomas) of the brain, skin, and other organs, often associated with seizures and learning disability. There is genetic heterogeneity with loci for TSC on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). The recently c...

journal_title：Journal of medical genetics

authors： Ali JB,Sepp T,Ward S,Green AJ,Yates JR

更新日期：1998-12-01 00:00:00

abstract：:Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism. A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mut...

journal_title：Journal of medical genetics

authors： Smith TA,Yau SC,Bobrow M,Abbs SJ

更新日期：1999-04-01 00:00:00

abstract：:A genetic study has been performed on five adrenoleucodystrophy families using DNA probes from Xq28. Members of each family had previously been tested for carrier status using the biochemical assay for very long chain fatty acids (VLCFAs), but several persons at risk had equivocal results. DNA analysis with four DNA p...

journal_title：Journal of medical genetics

authors： Del Mastro RG,Bundey S,Kilpatrick MW

更新日期：1990-11-01 00:00:00

abstract：BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...

journal_title：Journal of medical genetics

authors： Granadillo JL,P A Stegmann A,Guo H,Xia K,Angle B,Bontempo K,Ranells JD,Newkirk P,Costin C,Viront J,Stumpel CT,Sinnema M,Panis B,Pfundt R,Krapels IPC,Klaassens M,Nicolai J,Li J,Jiang Y,Marco E,Canton A,Latronico

更新日期：2020-10-01 00:00:00

abstract：:A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. ...

journal_title：Journal of medical genetics

authors： Pearce WG,Sanger R

更新日期：1976-08-01 00:00:00

abstract：:The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...

journal_title：Journal of medical genetics

authors： Dobbie Z,Spycher M,Mary JL,Häner M,Guldenschuh I,Hürliman R,Amman R,Roth J,Müller H,Scott RJ

更新日期：1996-04-01 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：:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...

journal_title：Journal of medical genetics

authors： Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JP

更新日期：1998-01-01 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：:A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...

journal_title：Journal of medical genetics

authors： Teare MD,Rohde K,Santibáñez Koref MF

更新日期：1994-06-01 00:00:00