Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

abstract：:In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children ...

journal_title：Journal of medical genetics

authors： Morton JE,Bundey S,Webb TP,MacDonald F,Rindl PM,Bullock S

更新日期：1997-01-01 00:00:00

abstract：BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...

journal_title：Journal of medical genetics

authors： Roos L,Jønch AE,Kjaergaard S,Taudorf K,Simonsen H,Hamborg-Petersen B,Brøndum-Nielsen K,Kirchhoff M

更新日期：2009-10-01 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：:Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...

journal_title：Journal of medical genetics

authors： Nava C,Hanna N,Michot C,Pereira S,Pouvreau N,Niihori T,Aoki Y,Matsubara Y,Arveiler B,Lacombe D,Pasmant E,Parfait B,Baumann C,Héron D,Sigaudy S,Toutain A,Rio M,Goldenberg A,Leheup B,Verloes A,Cavé H

更新日期：2007-12-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：:To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocy...

journal_title：Journal of medical genetics

authors： Moss C,Larkins S,Stacey M,Blight A,Farndon PA,Davison EV

更新日期：1993-09-01 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：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with a classical MNGIE clinical presentation but with...

journal_title：Journal of medical genetics

authors： Szigeti K,Wong LJ,Perng CL,Saifi GM,Eldin K,Adesina AM,Cass DL,Hirano M,Lupski JR,Scaglia F

更新日期：2004-02-01 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：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：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with the most common forms of EDS, types I and II. Here we characterise a COL5A2 mutation in an EDS II family. Cultured dermal fibroblast...

journal_title：Journal of medical genetics

authors： Richards AJ,Martin S,Nicholls AC,Harrison JB,Pope FM,Burrows NP

更新日期：1998-10-01 00:00:00

abstract：:Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected chi...

journal_title：Journal of medical genetics

authors： Edwards SJ,Fowlie A,Cust MP,Liu DT,Young ID,Dixon MJ

更新日期：1996-07-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 00:00:00

abstract：BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...

journal_title：Journal of medical genetics

authors： Türkmen S,Demirhan O,Hoffmann K,Diers A,Zimmer C,Sperling K,Mundlos S

更新日期：2006-05-01 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：:In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). We further evaluated selected SNPs in a replication sample set (83 cases and...

journal_title：Journal of medical genetics

authors： Mushiroda T,Wattanapokayakit S,Takahashi A,Nukiwa T,Kudoh S,Ogura T,Taniguchi H,Kubo M,Kamatani N,Nakamura Y,Pirfenidone Clinical Study Group.

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. ...

journal_title：Journal of medical genetics

authors： Tanaka T,Motoi N,Tsuchihashi Y,Tazawa R,Kaneko C,Nei T,Yamamoto T,Hayashi T,Tagawa T,Nagayasu T,Kuribayashi F,Ariyoshi K,Nakata K,Morimoto K

更新日期：2011-03-01 00:00:00

abstract：BACKGROUND:Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathol...

journal_title：Journal of medical genetics

authors： Heo SH,Kang E,Kim YM,Go H,Kim KY,Jung JY,Kang M,Kim GH,Kim JM,Choi IH,Choi JH,Jung SC,Desnick RJ,Yoo HW,Lee BH

更新日期：2017-11-01 00:00:00

abstract：:Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identi...

journal_title：Journal of medical genetics

authors： Bugge M,Bruun-Petersen G,Brøndum-Nielsen K,Friedrich U,Hansen J,Jensen G,Jensen PK,Kristoffersson U,Lundsteen C,Niebuhr E,Rasmussen KR,Rasmussen K,Tommerup N

更新日期：2000-11-01 00:00:00

abstract：:The chiasma distribution of bivalents 15 and 16 identified at diakinesis by a quadruple staining technique including DA-DAPI fluorescence has been investigated in two human males. The study has shown that chiasmata are not distributed at random. Both chromosomes have distally localised chiasmata, but in the long arm o...

journal_title：Journal of medical genetics

authors： Saadallah N,Hultén M

更新日期：1983-08-01 00:00:00

abstract：:We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-...

journal_title：Journal of medical genetics

authors： Ali M,Tunçman G,Cross NC,Vidailhet M,Bökesoy I,Gitzelmann R,Cox TM

更新日期：1994-06-01 00:00:00

abstract：BACKGROUND:Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue...

journal_title：Journal of medical genetics

authors： Willaert A,Malfait F,Symoens S,Gevaert K,Kayserili H,Megarbane A,Mortier G,Leroy JG,Coucke PJ,De Paepe A

更新日期：2009-04-01 00:00:00

abstract：OBJECTIVE:Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance assoc...

journal_title：Journal of medical genetics

authors： Rudnik-Schöneborn S,Heller R,Berg C,Betzler C,Grimm T,Eggermann T,Eggermann K,Wirth R,Wirth B,Zerres K

更新日期：2008-10-01 00:00:00

abstract：:Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...

journal_title：Journal of medical genetics

authors： Wilson LC,Oude Luttikhuis ME,Baraitser M,Kingston HM,Trembath RC

更新日期：1997-02-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 00:00:00

abstract：:Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...

journal_title：Journal of medical genetics

authors： Lynch SA,Wang Y,Strachan T,Burn J,Lindsay S

更新日期：2000-08-01 00:00:00

abstract：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 00:00:00

abstract：BACKGROUND:A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromoso...

journal_title：Journal of medical genetics

authors： Paracchini S,Pearce CL,Kolonel LN,Altshuler D,Henderson BE,Tyler-Smith C

更新日期：2003-11-01 00:00:00

abstract：BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...

journal_title：Journal of medical genetics

authors： Kiritsi D,Kern JS,Schumann H,Kohlhase J,Has C,Bruckner-Tuderman L

更新日期：2011-07-01 00:00:00

abstract：AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 00:00:00