Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

abstract：:World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...

journal_title：Journal of medical genetics

authors：

更新日期：1993-12-01 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：:Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the conditio...

journal_title：Journal of medical genetics

authors： Beales PL,Elcioglu N,Woolf AS,Parker D,Flinter FA

更新日期：1999-06-01 00:00:00

abstract：BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...

journal_title：Journal of medical genetics

authors： Klopocki E,Ott CE,Benatar N,Ullmann R,Mundlos S,Lehmann K

更新日期：2008-06-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：BACKGROUND:Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE:To identify the causative genetic defect in two sisters presenting with lethal i...

journal_title：Journal of medical genetics

authors： Spiegel R,Saada A,Flannery PJ,Burté F,Soiferman D,Khayat M,Eisner V,Vladovski E,Taylor RW,Bindoff LA,Shaag A,Mandel H,Schuler-Furman O,Shalev SA,Elpeleg O,Yu-Wai-Man P

更新日期：2016-02-01 00:00:00

abstract：:X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assign...

journal_title：Journal of medical genetics

authors： Clarke A,Burn J

更新日期：1991-05-01 00:00:00

abstract：:Studies of migraine with aura (MA) have shown familial aggregation of the disorder, which cannot be explained by simple mendelian inheritance. The interest in a genetic basis for the disorder has increased after identification of three genetic loci for familial hemiplegic migraine (FHM), which is a rare subtype of MA ...

journal_title：Journal of medical genetics

authors： Ulrich V,Gervil M,Kyvik KO,Olesen J,Russell MB

更新日期：1999-03-01 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：:A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...

journal_title：Journal of medical genetics

authors： Losekoot M,Fodde R,Harteveld CL,van Heeren H,Giordano PC,Went LN,Bernini LF

更新日期：1991-04-01 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：: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：: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：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：BACKGROUND:Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel w...

journal_title：Journal of medical genetics

authors： Jervis S,Song H,Lee A,Dicks E,Harrington P,Baynes C,Manchanda R,Easton DF,Jacobs I,Pharoah PP,Antoniou AC

更新日期：2015-07-01 00:00:00

abstract：BACKGROUND:Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD:Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-g...

journal_title：Journal of medical genetics

authors： Le Meur N,Holder-Espinasse M,Jaillard S,Goldenberg A,Joriot S,Amati-Bonneau P,Guichet A,Barth M,Charollais A,Journel H,Auvin S,Boucher C,Kerckaert JP,David V,Manouvrier-Hanu S,Saugier-Veber P,Frébourg T,Dubourg C,Andr

更新日期：2010-01-01 00:00:00

abstract：:A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...

journal_title：Journal of medical genetics

authors： Nutman J,Nissenkorn I,Varsano I,Mimouni M,Goodman RM

更新日期：1981-06-01 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：:Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. The di...

journal_title：Journal of medical genetics

authors： Choy FY

更新日期：1988-05-01 00:00:00

abstract：:Five single nucleotide polymorphisms (SNPs) associated with thyroid cancer (TC) risk have been reported: rs2910164 (5q24); rs6983267 (8q24); rs965513 and rs1867277 (9q22); and rs944289 (14q13). Most of these associations have not been replicated in independent populations and the combined effects of the SNPs on risk h...

journal_title：Journal of medical genetics

authors： Jones AM,Howarth KM,Martin L,Gorman M,Mihai R,Moss L,Auton A,Lemon C,Mehanna H,Mohan H,Clarke SE,Wadsley J,Macias E,Coatesworth A,Beasley M,Roques T,Martin C,Ryan P,Gerrard G,Power D,Bremmer C,TCUKIN Consortium.

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND:Azoospermia is the absence of a measurable level of spermatozoa in the semen. It affects approximately 1% of all men, and the genetic basis of the majority of idiopathic cases is unknown. We investigated two unrelated consanguineous families with idiopathic azoospermia. In family 1, there were three azoosper...

journal_title：Journal of medical genetics

authors： Ayhan Ö,Balkan M,Guven A,Hazan R,Atar M,Tok A,Tolun A

更新日期：2014-04-01 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：:The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P les...

journal_title：Journal of medical genetics

authors： Emery AE

更新日期：1986-08-01 00:00:00

abstract：:True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...

journal_title：Journal of medical genetics

authors： Jalal SM,Dahl R,Erickson L,Zimmerman D,Lindor N

更新日期：1996-03-01 00:00:00

abstract：:A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...

journal_title：Journal of medical genetics

authors： Hersh JH,Yen FF,Peiper SC,Barch MJ,Yacoub OA,Voss DH,Roberts JL

更新日期：1995-04-01 00:00:00

abstract：:To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome. ...

journal_title：Journal of medical genetics

authors： Baraitser M,Winter RM

更新日期：1988-01-01 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：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：:Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. T...

journal_title：Journal of medical genetics

authors： Maddox LO,Descartes M,Collins J,Keating J,Rosenfeld S,Palmer C,Carroll AJ,Kuzniecky R

更新日期：1997-07-01 00:00:00

abstract：:Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cyto...

journal_title：Journal of medical genetics

authors： Pintado E,de Diego Y,Hmadcha A,Carrasco M,Sierra J,Lucas M

更新日期：1995-11-01 00:00:00