Abstract:
:Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for genetic heterogeneity in ADRP.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Greenberg J,Babaya M,Ramesar R,Beighton Pdoi
10.1111/j.1399-0004.1992.tb03406.xsubject
Has Abstractpub_date
1992-06-01 00:00:00pages
322-5issue
6eissn
0009-9163issn
1399-0004journal_volume
41pub_type
杂志文章abstract::Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12254
更新日期:2014-02-01 00:00:00
abstract::In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620205.x
更新日期:2002-08-01 00:00:00
abstract::Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung la...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01325.x
更新日期:2010-02-01 00:00:00
abstract::A standardized, controlled vocabulary allows phenotypic information to be described in an unambiguous fashion in medical publications and databases. The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use o...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2010.01436.x
更新日期:2010-06-01 00:00:00
abstract::Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03339.x
更新日期:1987-08-01 00:00:00
abstract::An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02617.x
更新日期:1988-07-01 00:00:00
abstract::A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00728.x
更新日期:1981-05-01 00:00:00
abstract::A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and c...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb00378.x
更新日期:1985-08-01 00:00:00
abstract::A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb02656.x
更新日期:1998-02-01 00:00:00
abstract::A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02709.x
更新日期:1996-12-01 00:00:00
abstract::Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their conten...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00834.x
更新日期:2007-08-01 00:00:00
abstract::Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (microM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values we...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00734.x
更新日期:1981-05-01 00:00:00
abstract::Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less frequent than in the severe form of the disease. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03030.x
更新日期:1991-04-01 00:00:00
abstract::Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syn...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01299.x
更新日期:1977-03-01 00:00:00
abstract::Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients wit...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12775
更新日期:2016-10-01 00:00:00
abstract::Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12738
更新日期:2016-05-01 00:00:00
abstract::We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00091.x
更新日期:1983-11-01 00:00:00
abstract::Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13871
更新日期:2021-02-01 00:00:00
abstract::The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndr...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13375
更新日期:2019-02-01 00:00:00
abstract::This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00467.x
更新日期:1984-01-01 00:00:00
abstract::An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with diffe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03317.x
更新日期:1987-07-01 00:00:00
abstract::A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01568.x
更新日期:1976-02-01 00:00:00
abstract::X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00678.x
更新日期:1981-02-01 00:00:00
abstract::Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1995.tb04305.x
更新日期:1995-05-01 00:00:00
abstract::Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies which cause syncope and sudden death. LQT1, due to mutations of KCNQ1 (KVLQT1), is the most common form. This study describes the genotype-phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00048.x
更新日期:2003-04-01 00:00:00
abstract::The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2003.00152.x
更新日期:2003-10-01 00:00:00
abstract::Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01073.x
更新日期:1984-10-01 00:00:00
abstract::Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studie...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04024.x
更新日期:1994-04-01 00:00:00
abstract::This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped head...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb00920.x
更新日期:1977-09-01 00:00:00
abstract::Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00352.x
更新日期:2004-12-01 00:00:00