Catechol-o-methyltransferase activity in erythrocytes in Down's syndrome: family studies.

abstract：:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...

journal_title：Clinical genetics

authors： Zaina S,Lund G

更新日期：2012-04-01 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

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 00:00:00

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Demenais F,Runavot Y,Jehanne M,Toudic L

更新日期：1978-08-01 00:00:00

abstract：:Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. Now, the focus is on using NGS technology for diagnostics and therapeutics. In this review, we discuss the possible clinical applications of NGS and the potential of some of the current...

journal_title：Clinical genetics

authors： Desai AN,Jere A

更新日期：2012-06-01 00:00:00

abstract：:In order to increase the efficiency of the Magiscan metaphase location and karyotyping system, its software and mode of operation have been changed. In the new multiple-cell karyotyping method, interactions by the operator are only required for relocation and counting of metaphases, but not for karyotyping. Metaphases...

journal_title：Clinical genetics

authors： Lundsteen C,Gerdes T,Maahr J

更新日期：1991-05-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) usually develops within the first few weeks of life and resolves at a median age of 3 months. In most of the cases, TNDM is caused by the over-expression of a paternally expressed imprinted PLAGL1 locus on chromosome 6q24. The most frequent manifestation other than TNDM is i...

journal_title：Clinical genetics

authors： Suzuki S,Fujisawa D,Hashimoto K,Asano T,Maimaiti M,Matsuo K,Tanahashi Y,Mukai T,Fujieda K

更新日期：2010-12-01 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

authors： Eberhard G

更新日期：1981-05-01 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

authors： Berger R,Bussel A,Schenmetzler C

更新日期：1977-06-01 00:00:00

abstract：:The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up. ...

journal_title：Clinical genetics

authors： Sander C,Niederhoff H,Horn N

更新日期：1988-03-01 00:00:00

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 chromat...

journal_title：Clinical genetics

authors： Kawashima H,Sato T,Taniguchi N,Yagi T,Ishizaki K,Takebe H

更新日期：1980-02-01 00:00:00

abstract：:Low density lipoprotein (LDL) receptor activity, measured as 125I-LDL association and degradation at 37 degrees C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of...

journal_title：Clinical genetics

authors： Leren TP,Maartmann-Moe K,Thune P,Berg K

更新日期：1984-03-01 00:00:00

abstract：:Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 mi...

journal_title：Clinical genetics

authors： An XK,Fang J,Yu ZZ,Lin Q,Lu CX,Qu HL,Ma QL

更新日期：2017-08-01 00:00:00

abstract：:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive autoimmune disease caused by autoimmune regulator gene mutations. The aim of this study was to examine the mutation profile of Polish APECED patients, determine the carrier rate of the most frequent mutation(s) and estima...

journal_title：Clinical genetics

authors： Stolarski B,Pronicka E,Korniszewski L,Pollak A,Kostrzewa G,Rowińska E,Włodarski P,Skórka A,Gremida M,Krajewski P,Ploski R

更新日期：2006-10-01 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

authors： Romain DR,Columbano-Green LM,Parfitt RG,Chapman CJ,Smythe RH,Gebbie OB

更新日期：1985-08-01 00:00:00

abstract：BACKGROUND:Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS:Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS:While...

journal_title：Clinical genetics

authors： Ozyilmaz B,Kirbiyik O,Koc A,Ozdemir TR,Kaya OO,Guvenc MS,Erdoğan KM,Kutbay YB

更新日期：2017-10-01 00:00:00

abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...

journal_title：Clinical genetics

authors： Lu SY,Nishio S,Tsukada K,Oguchi T,Kobayashi K,Abe S,Usami S

更新日期：2009-05-01 00:00:00

abstract：:Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...

journal_title：Clinical genetics

authors： Kaur K,Reddy AB,Mukhopadhyay A,Mandal AK,Hasnain SE,Ray K,Thomas R,Balasubramanian D,Chakrabarti S

更新日期：2005-04-01 00:00:00

abstract：:An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was de...

journal_title：Clinical genetics

authors： Cabrera-Serrano M,Fabian VA,Boutilier J,Wise C,Faiz F,Lamont PJ,Laing NG

更新日期：2015-12-01 00:00:00

abstract：:Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...

journal_title：Clinical genetics

authors： Rao M,Guo G,Li M,Chen S,Chen K,Chen X,Song J,Hu S

更新日期：2019-12-01 00:00:00

abstract：:Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles were sp27 (sp with 27 amino acids), and...

journal_title：Clinical genetics

authors： Wu JH,Wen MS,Lo SK,Chern MS

更新日期：1994-05-01 00:00:00

abstract：:The increasing frequency with which the diagnosis of the 47,XXY karyotype is made requires more knowledge of the prognosis of this condition. We present four 47,XXY boys identified at birth and followed since then (Group I), and four 47,XXY boys diagnosed because of physical and/or emotional problems (Group II). Physi...

journal_title：Clinical genetics

authors： Salbenblatt JA,Bender BG,Puck MH,Robinson A,Webber ML

更新日期：1981-08-01 00:00:00

abstract：:Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected...

journal_title：Clinical genetics

authors： Arboleda VA,Lee H,Sánchez FJ,Délot EC,Sandberg DE,Grody WW,Nelson SF,Vilain E

更新日期：2013-01-01 00:00:00

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

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosoma...

journal_title：Clinical genetics

authors： Umair M,Ullah A,Abbas S,Ahmad F,Basit S,Ahmad W

更新日期：2018-03-01 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

authors： Robinson PN,Mundlos S

更新日期：2010-06-01 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

authors： Bayat A,Yasmeen S,Lund A,Nielsen JB,Møller LB

更新日期：2016-09-01 00:00:00

abstract：:An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...

journal_title：Clinical genetics

authors： Lin Z,Pearson C,Chinchilli V,Pietschmann SM,Luo J,Pison U,Floros J

更新日期：2000-09-01 00:00:00

abstract：:NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de no...

journal_title：Clinical genetics

authors： Lévy J,Grotto S,Mignot C,Maruani A,Delahaye-Duriez A,Benzacken B,Keren B,Haye D,Xavier J,Heulin M,Charles E,Verloes A,Dupont C,Pipiras E,Tabet AC

更新日期：2018-08-01 00:00:00

abstract：:Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that ar...

journal_title：Clinical genetics

authors： Sheikhzadeh S,Rybczynski M,Habermann CR,Bernhardt AM,Arslan-Kirchner M,Keyser B,Kaemmerer H,Mir TS,Staebler A,Oezdal N,Robinson PN,Berger J,Meinertz T,von Kodolitsch Y

更新日期：2011-06-01 00:00:00