Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.

abstract：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00

abstract：BACKGROUND:DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not ...

journal_title：Journal of medical genetics

authors： Browning BL,Annese V,Barclay ML,Bingham SA,Brand S,Büning C,Castro M,Cucchiara S,Dallapiccola B,Drummond H,Ferguson LR,Ferraris A,Fisher SA,Gearry RB,Glas J,Henckaerts L,Huebner C,Knafelz D,Lakatos L,Lakatos PL,La

更新日期：2008-01-01 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:Male infertility is a prevalent issue worldwide, mostly due to the impaired sperm motility. Multiple morphological abnormalities of the sperm flagella (MMAF) present aberrant spermatozoa with absent, short, coiled, bent and irregular-calibre flagella resulting in severely decreased motility. Previous studies...

journal_title：Journal of medical genetics

authors： Li W,Wu H,Li F,Tian S,Kherraf ZE,Zhang J,Ni X,Lv M,Liu C,Tan Q,Shen Y,Amiri-Yekta A,Cazin C,Zhang J,Liu W,Zheng Y,Cheng H,Wu Y,Wang J,Gao Y,Chen Y,Zha X,Jin L,Liu M,He X,Ray PF,Cao Y,Zhang F

更新日期：2020-02-01 00:00:00

abstract：:Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...

journal_title：Journal of medical genetics

authors： Yates JR,Emery AE

更新日期：1985-08-01 00:00:00

abstract：:Cultivated cells obtained by amniocentesis for antenatal diagnosis were examined for the presence of keratin filaments by immunofluorescent staining techniques. In primary cultures, cells in fibroblast type colonies do not possess keratin filaments whereas cells in epithelial type colonies show positive staining of ke...

journal_title：Journal of medical genetics

authors： Chen WW

更新日期：1982-12-01 00:00:00

abstract：:Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...

journal_title：Journal of medical genetics

authors： Knight LA,Soon GM,Tan M

更新日期：1993-07-01 00:00:00

abstract：:A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...

journal_title：Journal of medical genetics

authors： Eckert WA,Jung C,Wolff G

更新日期：1994-06-01 00:00:00

abstract：BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...

journal_title：Journal of medical genetics

authors： Antonio Casado J,Callén E,Jacome A,Río P,Castella M,Lobitz S,Ferro T,Muñoz A,Sevilla J,Cantalejo A,Cela E,Cervera J,Sánchez-Calero J,Badell I,Estella J,Dasí A,Olivé T,José Ortega J,Rodriguez-Villa A,Tapia M,Moliné

更新日期：2007-04-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 00:00:00

abstract：:In an attempt to relate the age at onset of Huntington's disease to parental factors, the effects of parental onset-age (Po) and the age of the transmitting parent at the birth of a subsequently affected child (Pc) have been examined in a sample of cases ascertained from Victorian kindreds. There was a significant pos...

journal_title：Journal of medical genetics

authors： Brackenridge CJ,Teltscher B

更新日期：1975-03-01 00:00:00

abstract：:Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...

journal_title：Journal of medical genetics

authors： Bartsch O,Petersen MB,Stuhlmann I,Mau G,Frantzen M,Schwinger E,Antonarakis SE,Mikkelsen M

更新日期：1994-07-01 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：:The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...

journal_title：Journal of medical genetics

authors： Willcox MC,Weatherall DJ,Clegg JB

更新日期：1975-06-01 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：:HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...

journal_title：Journal of medical genetics

authors： Sanders PA,Grennan DM,Dyer PA,de Lange GG,Harris R

更新日期：1985-12-01 00:00:00

abstract：BACKGROUND:Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable ren...

journal_title：Journal of medical genetics

authors： Dimitrov BI,Voet T,De Smet L,Vermeesch JR,Devriendt K,Fryns JP,Debeer P

更新日期：2010-08-01 00:00:00

abstract：OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...

journal_title：Journal of medical genetics

authors： Aktan-Collan K,Mecklin JP,de la Chapelle A,Peltomäki P,Uutela A,Kääriäinen H

更新日期：2000-02-01 00:00:00

abstract：BACKGROUND:In 30-50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, or POLE or POLD1, causing polymerase-proofreading-associated polyposis can be identified, although a hereditary aetiolog...

journal_title：Journal of medical genetics

authors： Spier I,Drichel D,Kerick M,Kirfel J,Horpaopan S,Laner A,Holzapfel S,Peters S,Adam R,Zhao B,Becker T,Lifton RP,Perner S,Hoffmann P,Kristiansen G,Timmermann B,Nöthen MM,Holinski-Feder E,Schweiger MR,Aretz S

更新日期：2016-03-01 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：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 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：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：BACKGROUND:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

journal_title：Journal of medical genetics

authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer. OBJECTIVE:To estimate the contribution of large...

journal_title：Journal of medical genetics

authors： Casilli F,Tournier I,Sinilnikova OM,Coulet F,Soubrier F,Houdayer C,Hardouin A,Berthet P,Sobol H,Bourdon V,Muller D,Fricker JP,Capoulade-Metay C,Chompret A,Nogues C,Mazoyer S,Chappuis P,Maillet P,Philippe C,Lortholar

更新日期：2006-09-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 00:00:00

abstract：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 00:00:00

abstract：:A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delay...

journal_title：Journal of medical genetics

authors： Thompson EM,Hill S,Leonard JV,Pembrey ME

更新日期：1987-04-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：BACKGROUND:The high prevalence of tobacco use in some developing nations, including Bangladesh, poses several public health challenges for these populations. Smoking behaviour is determined by genetic and environmental factors; however, the genetic determinants of smoking behaviour have not been previously examined in ...

journal_title：Journal of medical genetics

authors： Argos M,Tong L,Pierce BL,Rakibuz-Zaman M,Ahmed A,Islam T,Rahman M,Paul-Brutus R,Rahaman R,Roy S,Jasmine F,Kibriya MG,Ahsan H

更新日期：2014-05-01 00:00:00