Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

abstract：BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...

journal_title：Journal of medical genetics

authors： Kutkowska-Kaźmierczak A,Rydzanicz M,Chlebowski A,Kłosowska-Kosicka K,Mika A,Gruchota J,Jurkiewicz E,Kowalewski C,Pollak A,Stradomska TJ,Kmieć T,Jakubowski R,Gasperowicz P,Walczak A,Śladowski D,Jankowska-Steifer E,Kornisze

更新日期：2018-06-01 00:00:00

abstract：:Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...

journal_title：Journal of medical genetics

authors： Bridges AB,Faed M,Boxer M,Gray JR,Bundy C,Murray A

更新日期：1992-02-01 00:00:00

abstract：:A family study of hidradenitis suppurativa was undertaken based on 26 subjects with the disease. The probands were obtained from Hospital Activity Analysis (HAA) records for a three year period (1980 to 1983) and by direct referral from hospital specialists over a six month period (1983 to 1984). Family pedigree infor...

journal_title：Journal of medical genetics

authors： Fitzsimmons JS,Guilbert PR

更新日期：1985-10-01 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：:To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...

journal_title：Journal of medical genetics

authors： Yu B,French JA,Jeremy RW,French P,McTaggart DR,Nicholson MR,Semsarian C,Richmond DR,Trent RJ

更新日期：1998-03-01 00:00:00

abstract：:The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the...

journal_title：Journal of medical genetics

authors： Ives E,Coffey R,Carter CO

更新日期：1980-04-01 00:00:00

abstract：:It has previously been suggested that the non-deletion form of the alpha thalassaemia/mental retardation syndrome may be an X linked disorder. We describe four brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features, although these varied somewhat from on...

journal_title：Journal of medical genetics

authors： Donnai D,Clayton-Smith J,Gibbons RJ,Higgs DR

更新日期：1991-11-01 00:00:00

abstract：:Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...

journal_title：Journal of medical genetics

authors： Dunnill MG,Rodeck CH,Richards AJ,Atherton D,Lake BD,Petrou M,Eady RA,Pope FM

更新日期：1995-09-01 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：:Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 case...

journal_title：Journal of medical genetics

authors： Niermeijer MF,Sachs ES,Jahodova M,Tichelaar-Klepper C,Kleijer WJ,Galjaard H

更新日期：1976-06-01 00:00:00

abstract：:Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...

journal_title：Journal of medical genetics

authors： Lammer EJ,Edmonds LD

更新日期：1987-08-01 00:00:00

abstract：:We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...

journal_title：Journal of medical genetics

authors： Christodoulou J,McDougall PN,Sheffield LJ

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 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:Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH f...

journal_title：Journal of medical genetics

authors： Nasser H,Vera L,Elmaleh-Bergès M,Steindl K,Letard P,Teissier N,Ernault A,Guimiot F,Afenjar A,Moutard ML,Héron D,Alembik Y,Momtchilova M,Milani P,Kubis N,Pouvreau N,Zollino M,Guilmin Crepon S,Kaguelidou F,Gressens P

更新日期：2020-06-01 00:00:00

abstract：:We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...

journal_title：Journal of medical genetics

authors： Varley JM,McGown G,Thorncroft M,Tricker KJ,Teare MD,Santibanez-Koref MF,Martin J,Birch JM,Evans DG

更新日期：1995-12-01 00:00:00

abstract：BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...

journal_title：Journal of medical genetics

authors： Kanai K,Yoshida S,Hirose S,Oguni H,Kuwabara S,Sawai S,Hiraga A,Fukuma G,Iwasa H,Kojima T,Kaneko S

更新日期：2009-10-01 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：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：: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：:We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, an...

journal_title：Journal of medical genetics

authors： Orstavik KH,Strømme P,Ek J,Torvik A,Skjeldal OH

更新日期：1997-10-01 00:00:00

abstract：BACKGROUND:Warfarin is a mainstay of therapy for conditions associated with an increased risk of thromboembolic events. However, the use of this common agent is fraught with complications and little is known regarding inter-individual variation in warfarin response. OBJECTIVE:We tested for association between single n...

journal_title：Journal of medical genetics

authors： Li T,Lange LA,Li X,Susswein L,Bryant B,Malone R,Lange EM,Huang TY,Stafford DW,Evans JP

更新日期：2006-09-01 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:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 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：BACKGROUND:Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). Only the first two SNPs have be...

journal_title：Journal of medical genetics

authors： Wang YL,Feng SH,Guo SC,Wei WJ,Li DS,Wang Y,Wang X,Wang ZY,Ma YY,Jin L,Ji QH,Wang JC

更新日期：2013-10-01 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：:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart f...

journal_title：Journal of medical genetics

authors： Beighton P

更新日期：1981-04-01 00:00:00

abstract：:We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypog...

journal_title：Journal of medical genetics

authors： Oley CA,Baraitser M,Grant DB

更新日期：1988-03-01 00:00:00