Abstract:
:Clinical, cytogenetic, and immunological data of a 5-year-old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromatid exchanges. Immunological studies showed that the serum levels of IgM and IgA, but not IgG, were abnormally low as compared to the age-matched control values and that the generation of cytoplasmic immunoglobulin-producing cells in the peripheral blood lymphocytes, which was evaluated in the in vitro pokeweed mitogen-stimulated cultures, was markedly reduced.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Kawashima H,Sato T,Taniguchi N,Yagi T,Ishizaki K,Takebe Hdoi
10.1111/j.1399-0004.1980.tb00123.xsubject
Has Abstractpub_date
1980-02-01 00:00:00pages
143-8issue
2eissn
0009-9163issn
1399-0004journal_volume
17pub_type
杂志文章abstract::We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03751.x
更新日期:1998-11-01 00:00:00
abstract::Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13094
更新日期:2018-05-01 00:00:00
abstract::Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00469.x
更新日期:2005-08-01 00:00:00
abstract::The concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04215.x
更新日期:1994-07-01 00:00:00
abstract::Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubat...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb01491.x
更新日期:1975-09-01 00:00:00
abstract::We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family mem...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13217
更新日期:2018-05-01 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::A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01005.x
更新日期:1979-11-01 00:00:00
abstract::The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patien...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620309.x
更新日期:2002-09-01 00:00:00
abstract::Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indica...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12421
更新日期:2015-05-01 00:00:00
abstract::The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12194
更新日期:2014-05-01 00:00:00
abstract::In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective fe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01904.x
更新日期:1986-11-01 00:00:00
abstract::Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12294
更新日期:2014-10-01 00:00:00
abstract::The D/I (deletion, D, insertion, I) polymorphism of the angiotensin-converting enzyme (ACE) gene has been extensively studied for its association with a number of cardiovascular and other disease states. However, its potential association with differential clinical efficacy of ACE inhibitors (ACE-I) administered to pa...
journal_title:Clinical genetics
pub_type: 临床试验,杂志文章
doi:10.1034/j.1399-0004.2002.610104.x
更新日期:2002-01-01 00:00:00
abstract::Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The a...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12864
更新日期:2017-07-01 00:00:00
abstract::A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03666.x
更新日期:1992-04-01 00:00:00
abstract::A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the ch...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb03794.x
更新日期:1996-06-01 00:00:00
abstract::We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most fre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12692
更新日期:2016-09-01 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::Several sequence variations were examined for being endogenous "risk markers" in the development of CHD. The "markers" in this study included: the PstI-SstI RFLPs in the apo AI-CIII gene cluster, the EcoRI-MspI RFLPs in the apo B100 gene and the SstI RFLP in the 5' flanking region of the insulin gene. The study popula...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb03957.x
更新日期:1995-04-01 00:00:00
abstract::Serum-trypsin-inhibitory-capacity (STIC) and alpha1-antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents-of-twins. An increased prevalence (17.0--21.9%) of intermediate AAT deficiency (STIC less than 0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1% in 1,8...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb02026.x
更新日期:1979-01-01 00:00:00
abstract::A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01336.x
更新日期:1977-06-01 00:00:00
abstract::A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02133.x
更新日期:1978-10-01 00:00:00
abstract::Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510. ...
journal_title:Clinical genetics
pub_type: 评论,杂志文章
doi:10.1111/cge.12471
更新日期:2014-11-01 00:00:00
abstract::The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skelet...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12785
更新日期:2016-12-01 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::Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01323.x
更新日期:2010-04-01 00:00:00
abstract::The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00812.x
更新日期:1986-03-01 00:00:00
abstract::It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13026
更新日期:2017-12-01 00:00:00
abstract::Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 gene identifications for non-syndromic hearing loss. Transmembrane chan...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01053.x
更新日期:2008-09-01 00:00:00