Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

abstract：:A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...

journal_title：Journal of medical genetics

authors： Dosik D,Verma RS

更新日期：1983-12-01 00:00:00

abstract：:The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a sibling or other appropriate ...

journal_title：Journal of medical genetics

authors： Handyside AH,Harton GL,Mariani B,Thornhill AR,Affara N,Shaw MA,Griffin DK

更新日期：2010-10-01 00:00:00

abstract：:An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males...

journal_title：Journal of medical genetics

authors： Harvey J,Judge C,Wiener S

更新日期：1977-02-01 00:00:00

abstract：:Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inborn error of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. This enzyme is encoded by the AGXT gene on chromosome 2q37.3. DNA samples from 79 PH1 patients were studied using single s...

journal_title：Journal of medical genetics

authors： von Schnakenburg C,Rumsby G

更新日期：1997-06-01 00:00:00

abstract：:VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo...

journal_title：Journal of medical genetics

authors： Chen Y,Liu Z,Chen J,Zuo Y,Liu S,Chen W,Liu G,Qiu G,Giampietro PF,Wu N,Wu Z

更新日期：2016-07-01 00:00:00

abstract：:Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...

journal_title：Journal of medical genetics

authors： Hodgson SV,Coonar AS,Hanson PJ,Cottrell S,Scriven PN,Jones T,Hawley PR,Wilkinson ML

更新日期：1993-05-01 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：: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：:A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...

journal_title：Journal of medical genetics

authors： de Die-Smulders CE,Droog RP,van Dijk M,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...

journal_title：Journal of medical genetics

authors： Charles SJ,Moore AT,Yates JR

更新日期：1992-08-01 00:00:00

abstract：BACKGROUND:Tibial pseudarthrosis is associated with neurofibromatosis type 1 (NF1) and there is wide clinical variability of the tibial dysplasia in NF1, suggesting the possibility of genetic modifiers. Double inactivation of NF1 is postulated to be necessary for the development of tibial pseudarthrosis, but tissue or ...

journal_title：Journal of medical genetics

authors： Sant DW,Margraf RL,Stevenson DA,Grossmann AH,Viskochil DH,Hanson H,Everitt MD,Rios JJ,Elefteriou F,Hennessey T,Mao R

更新日期：2015-04-01 00:00:00

abstract：:Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resemblin...

journal_title：Journal of medical genetics

authors： Dowton SB,Hing AV,Sheen-Kaniecki V,Watson MS

更新日期：1997-05-01 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：: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：: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：:In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with type I hyperlipoprote...

journal_title：Journal of medical genetics

authors： Tuzgöl S,Bijvoet SM,Bruin T,Kastelein JJ,Hayden MR

更新日期：1994-08-01 00:00:00

abstract：:A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...

journal_title：Journal of medical genetics

authors： Yatziv S,Epstein CJ

更新日期：1977-12-01 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：:A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...

journal_title：Journal of medical genetics

authors： Scarbrough PR,Carroll AJ,Finley SC,Hamerick K

更新日期：1986-04-01 00:00:00

abstract：OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...

journal_title：Journal of medical genetics

authors： Campbell H,Bradshaw N,Davidson R,Dean J,Goudie D,Holloway S,Porteous M

更新日期：2000-09-01 00:00:00

abstract：:A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. ...

journal_title：Journal of medical genetics

authors： Farag TI,al-Awadi SA,Marafie MJ,Bastaki L,al-Othman SA,Mohammed FM,AlSuliman IS,Murthy DS

更新日期：1993-01-01 00:00:00

abstract：:Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...

journal_title：Journal of medical genetics

authors： Kraus C,Kastl S,Günther K,Klessinger S,Hohenberger W,Ballhausen WG

更新日期：1999-12-01 00:00:00

abstract：BACKGROUND:Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN:1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS:Al...

journal_title：Journal of medical genetics

authors： Fuller M,Tucker JN,Lang DL,Dean CJ,Fietz MJ,Meikle PJ,Hopwood JJ

更新日期：2011-06-01 00:00:00

abstract：BACKGROUND:Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE:To identify an additional causative gene in Sensenbrenner syndrome. METHODS:Single nucleotide po...

journal_title：Journal of medical genetics

authors： Arts HH,Bongers EM,Mans DA,van Beersum SE,Oud MM,Bolat E,Spruijt L,Cornelissen EA,Schuurs-Hoeijmakers JH,de Leeuw N,Cormier-Daire V,Brunner HG,Knoers NV,Roepman R

更新日期：2011-06-01 00:00:00

abstract：:Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...

journal_title：Journal of medical genetics

authors： Rodríguez-Ballesteros M,Olarte M,Aguirre LA,Galán F,Galán R,Vallejo LA,Navas C,Villamar M,Moreno-Pelayo MA,Moreno F,del Castillo I

更新日期：2006-11-01 00:00:00

abstract：:Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general pop...

journal_title：Journal of medical genetics

authors： Wang ZJ,Churchman M,Avizienyte E,McKeown C,Davies S,Evans DG,Ferguson A,Ellis I,Xu WH,Yan ZY,Aaltonen LA,Tomlinson IP

更新日期：1999-05-01 00:00:00

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 00:00:00

abstract：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 00:00:00

abstract：:PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary c...

journal_title：Journal of medical genetics

authors： Zhou XP,Smith WM,Gimm O,Mueller E,Gao X,Sarraf P,Prior TW,Plass C,von Deimling A,Black PM,Yates AJ,Eng C

更新日期：2000-06-01 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