Prenatal diagnosis of the common haemoglobin disorders.

abstract：:Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic...

journal_title：Journal of medical genetics

authors： Froggatt NJ,Brassett C,Koch DJ,Evans DG,Hodgson SV,Ponder BA,Maher ER

更新日期：1996-09-01 00:00:00

abstract：:A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsi...

journal_title：Journal of medical genetics

authors： Sohda S,Arinami T,Hamada H,Yamada N,Hamaguchi H,Kubo T

更新日期：1997-06-01 00:00:00

abstract：:Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Aalfs CM,Sluitjer S,Oude Luttikhuis ME,Trembath RC,Hoovers JM,Hennekam RC

更新日期：1999-08-01 00:00:00

abstract：:We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation...

journal_title：Journal of medical genetics

authors： Jehee FS,Krepischi-Santos AC,Rocha KM,Cavalcanti DP,Kim CA,Bertola DR,Alonso LG,D'Angelo CS,Mazzeu JF,Froyen G,Lugtenberg D,Vianna-Morgante AM,Rosenberg C,Passos-Bueno MR

更新日期：2008-07-01 00:00:00

abstract：:We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...

journal_title：Journal of medical genetics

authors： Schwartz RC,Blanton SH,Hyde CA,Sottile TR Jr,Hudgins L,Sarfarazi M,Tsipouras P

更新日期：1990-02-01 00:00:00

abstract：:Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these child...

journal_title：Journal of medical genetics

authors： Brooks AS,Breuning MH,Osinga J,vd Smagt JJ,Catsman CE,Buys CH,Meijers C,Hofstra RM

更新日期：1999-06-01 00:00:00

abstract：:The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...

journal_title：Journal of medical genetics

authors： Cole WG,Chow CW,Bateman JF,Sillence DO

更新日期：1996-11-01 00:00:00

abstract：BACKGROUND:Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bo...

journal_title：Journal of medical genetics

authors： Furuichi T,Kayserili H,Hiraoka S,Nishimura G,Ohashi H,Alanay Y,Lerena JC,Aslanger AD,Koseki H,Cohn DH,Superti-Furga A,Unger S,Ikegawa S

更新日期：2009-08-01 00:00:00

abstract：BACKGROUND:The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression ...

journal_title：Journal of medical genetics

authors： de Laat P,Rodenburg RR,Roeleveld N,Koene S,Smeitink JA,Janssen MC

更新日期：2021-01-01 00:00:00

abstract：:The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 life...

journal_title：Journal of medical genetics

authors： Bundey S,Evans K

更新日期：1982-02-01 00:00:00

abstract：:We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...

journal_title：Journal of medical genetics

authors： MacDermot KD,Patton MA,Williams MJ,Winter RM

更新日期：1989-06-01 00:00:00

abstract：:We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion re...

journal_title：Journal of medical genetics

authors： Young RS,Shapiro SD,Hansen KL,Hine LK,Rainosek DE,Guerra FA

更新日期：1983-06-01 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：BACKGROUND/AIMS:The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determin...

journal_title：Journal of medical genetics

authors： Wallis YL,Morton DG,McKeown CM,Macdonald F

更新日期：1999-01-01 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：BACKGROUND:Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. LRP4 mutations were identified in most, but not all patients with this syndrome, suggesting the presence of at least one additional...

journal_title：Journal of medical genetics

authors： Patel N,Faqeih E,Anazi S,Alfawareh M,Wakil SM,Colak D,Alkuraya FS

更新日期：2015-05-01 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：: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 a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the co...

journal_title：Journal of medical genetics

authors： Bartsch O,Tympner KD,Schwinger E,Gorlin RJ

更新日期：1994-09-01 00:00:00

abstract：:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...

journal_title：Journal of medical genetics

authors： Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GF

更新日期：1984-08-01 00:00:00

abstract：BACKGROUND:Structural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional interpretation of these non-coding variants remains challenging. The human Liebenberg syndrome is characterised by a partial transformation of the arms into legs and ...

journal_title：Journal of medical genetics

authors： Kragesteen BK,Brancati F,Digilio MC,Mundlos S,Spielmann M

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...

journal_title：Journal of medical genetics

authors： Chu X,Shen M,Xie F,Miao XJ,Shou WH,Liu L,Yang PP,Bai YN,Zhang KY,Yang L,Hua Q,Liu WD,Dong Y,Wang HF,Shi JX,Wang Y,Song HD,Chen SJ,Chen Z,Huang W

更新日期：2013-07-01 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：:We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly. ...

journal_title：Journal of medical genetics

authors： Young ID,Madders DJ

更新日期：1987-11-01 00:00:00

abstract：:A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were include...

journal_title：Journal of medical genetics

authors： Speed RM,Johnston AW,Evans HJ

更新日期：1976-08-01 00:00:00

abstract：:Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alle...

journal_title：Journal of medical genetics

authors： Amaral O,Fortuna AM,Lacerda L,Pinto R,Sa Miranda MC

更新日期：1994-05-01 00:00:00

abstract：BACKGROUND:Progress has been made in identifying mutations that confer susceptibility to complex diseases, with the prospect that these genetic risks might be used in determining individual disease risk. AIM:To use Crohn disease (CD) as a model of a common complex disorder, and to develop methods to estimate disease r...

journal_title：Journal of medical genetics

authors： Lewis CM,Whitwell SC,Forbes A,Sanderson J,Mathew CG,Marteau TM

更新日期：2007-11-01 00:00:00

abstract：BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...

journal_title：Journal of medical genetics

authors： Ballarati L,Rossi E,Bonati MT,Gimelli S,Maraschio P,Finelli P,Giglio S,Lapi E,Bedeschi MF,Guerneri S,Arrigo G,Patricelli MG,Mattina T,Guzzardi O,Pecile V,Police A,Scarano G,Larizza L,Zuffardi O,Giardino D

更新日期：2007-01-01 00:00:00

abstract：:A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published. ...

journal_title：Journal of medical genetics

authors： Greig DN

更新日期：1977-04-01 00:00:00

abstract：BACKGROUND:Somatic mutations are a major driver of cancer development and many have now been identified in various cancer types, but the comprehensive somatic mutation status of the normal tissues matched to tumours has not been revealed. METHOD:We analysed the somatic mutations of whole exome sequencing data in 392 p...

journal_title：Journal of medical genetics

authors： Oh JH,Sung CO

更新日期：2020-07-27 00:00:00