Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

abstract：:A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...

journal_title：Journal of medical genetics

authors： McCann SR,Smithwick AM,Temperley IJ,Tipton K

更新日期：1980-06-01 00:00:00

abstract：:The results of the present investigation have failed to confirm the suggestion that there is a significant increase in the proportion of echinocytes in preparation of fresh erythrocytes in patients with Duchenne muscular dystrophy and heterozygous carriers of this disorder. ...

journal_title：Journal of medical genetics

authors： Soltan HC

更新日期：1977-08-01 00:00:00

abstract：:The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the cra...

journal_title：Journal of medical genetics

authors： Reardon W,Smith A,Honour JW,Hindmarsh P,Das D,Rumsby G,Nelson I,Malcolm S,Adès L,Sillence D,Kumar D,DeLozier-Blanchet C,McKee S,Kelly T,McKeehan WL,Baraitser M,Winter RM

更新日期：2000-01-01 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：PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...

journal_title：Journal of medical genetics

authors： Boycott K,Hartley T,Adam S,Bernier F,Chong K,Fernandez BA,Friedman JM,Geraghty MT,Hume S,Knoppers BM,Laberge AM,Majewski J,Mendoza-Londono R,Meyn MS,Michaud JL,Nelson TN,Richer J,Sadikovic B,Skidmore DL,Stockley T,

更新日期：2015-07-01 00:00:00

abstract：:Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 lo...

journal_title：Journal of medical genetics

authors： Papaioannou M,Bessant D,Payne A,Bellingham J,Rougas C,Loutradis-Anagnostou A,Gregory-Evans C,Balassopoulou A,Bhattacharya S

更新日期：1998-05-01 00:00:00

abstract：:Placental lead levels were studied in a series of Birmingham births classified by stillbirth, neonatal death, or survival beyond one week. There was an appreciable range of lead levels even in normal births (0.15-3.56 microgram/g) but nevertheless average results showed a pronounced excess of lead in those who failed ...

journal_title：Journal of medical genetics

authors： Wibberley DG,Khera AK,Edwards JH,Rushton DI

更新日期：1977-10-01 00:00:00

abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

journal_title：Journal of medical genetics

authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

更新日期：1996-08-01 00:00:00

abstract：:The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...

journal_title：Journal of medical genetics

authors： Dobbie Z,Spycher M,Mary JL,Häner M,Guldenschuh I,Hürliman R,Amman R,Roth J,Müller H,Scott RJ

更新日期：1996-04-01 00:00:00

abstract：BACKGROUND:Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE:To describe a new autosomal recessive syndrome of CFE...

journal_title：Journal of medical genetics

authors： Tukel T,Uzumcu A,Gezer A,Kayserili H,Yuksel-Apak M,Uyguner O,Gultekin SH,Hennies HC,Nurnberg P,Desnick RJ,Wollnik B

更新日期：2005-05-01 00:00:00

abstract：:Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...

journal_title：Journal of medical genetics

authors： Terzoli G,Cartolano R,Rossella F,Cantù-Rajnoldi A,Brambati B,Fraccaro M,Simoni G

更新日期：1992-10-01 00:00:00

abstract：:Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The conside...

journal_title：Journal of medical genetics

authors： Bernstein R,Isdale J,Pinto M,Du Toit Zaaijman J,Jenkins T

更新日期：1985-02-01 00:00:00

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：:A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...

journal_title：Journal of medical genetics

authors： Monheit A,Francke U,Saunders B,Jones KL

更新日期：1980-10-01 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：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...

journal_title：Journal of medical genetics

authors： Tomlinson IP,Roylance R,Houlston RS

更新日期：2001-02-01 00:00:00

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：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：BACKGROUND:Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial feat...

journal_title：Journal of medical genetics

authors： Rivera-Brugués N,Albrecht B,Wieczorek D,Schmidt H,Keller T,Göhring I,Ekici AB,Tzschach A,Garshasbi M,Franke K,Klopp N,Wichmann HE,Meitinger T,Strom TM,Hempel M

更新日期：2011-02-01 00:00:00

abstract：:Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...

journal_title：Journal of medical genetics

authors： Plecko B,Zweier M,Begemann A,Mathis D,Schmitt B,Striano P,Baethmann M,Vari MS,Beccaria F,Zara F,Crowther LM,Joset P,Sticht H,Papuc SM,Rauch A

更新日期：2017-12-01 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：BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...

journal_title：Journal of medical genetics

authors： Zhang TX,Haller G,Lin P,Alvarado DM,Hecht JT,Blanton SH,Stephens Richards B,Rice JP,Dobbs MB,Gurnett CA

更新日期：2014-05-01 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：:Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were ...

journal_title：Journal of medical genetics

authors： Villard L

更新日期：2007-07-01 00:00:00

abstract：:We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history ...

journal_title：Journal of medical genetics

authors： Hordijk R,Wierenga H,Scheffer H,Leegte B,Hofstra RM,Stolte-Dijkstra I

更新日期：1999-10-01 00:00:00

abstract：BACKGROUND:The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We hav...

journal_title：Journal of medical genetics

authors： Codina-Sola M,Costa-Roger M,Pérez-García D,Flores R,Palacios-Verdú MG,Cusco I,Pérez-Jurado LA

更新日期：2019-12-01 00:00:00

abstract：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 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: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