Activity of platelet monoamine oxidase in apparently health subjects.

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 sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-260...

journal_title：Clinical genetics

authors： Zhao H,Keddache M,Bailey L,Arnold G,Grabowski G

更新日期：2003-07-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...

journal_title：Clinical genetics

authors： Li MD,Ma JZ,Beuten J

更新日期：2004-11-01 00:00:00

abstract：:A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother follow...

journal_title：Clinical genetics

authors： Oizumi J,Ng WG,Koch R,Shaw KN,Sweetman L,Velazquez A,Donnell GN

更新日期：1984-06-01 00:00:00

abstract：:The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected...

journal_title：Clinical genetics

authors： Wu ZY,Lin Y,Chen WJ,Zhao GX,Xie H,Murong SX,Wang N

更新日期：2008-12-01 00:00:00

abstract：:The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to...

journal_title：Clinical genetics

authors： Gustavson KH,Dahlbom K,Flood A,Holmgren G,Blomquist HK,Sanner G

更新日期：1985-05-01 00:00:00

abstract：:Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance. By mutational analysis of the PRKAR1A gene we detected...

journal_title：Clinical genetics

authors： Muhn F,Klopocki E,Graul-Neumann L,Uhrig S,Colley A,Castori M,Lankes E,Henn W,Gruber-Sedlmayr U,Seifert W,Horn D

更新日期：2013-12-01 00:00:00

abstract：:Among 120 meiotic analyses of infertile men there were three cases with a particular meiotic anomaly: low chiasma count at diakinesis and spermatogenic arrest. All clinical findings, hormonal analyses and karyotypes from peripheral blood were normal. Meiotic studies showed that pachytene pairing was complete, but in d...

journal_title：Clinical genetics

authors： Mićić M,Mićić S,Diklić V

更新日期：1982-11-01 00:00:00

abstract：:In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22%, were consanguineous; several of the parents were related and the geograph...

journal_title：Clinical genetics

authors： Norio R,Koskiniemi M

更新日期：1979-05-01 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：:With philatelic illustrations, we review sickle cell anemia, some of the common hemoglobinopathies, and their relevance to malaria. We discuss the mechanism by which hemoglobinopathies arise, the progress made with pre-natal screening, as well as innovative therapies. We review recent developments in the pathophysiolo...

journal_title：Clinical genetics

authors： Richer J,Chudley AE

更新日期：2005-10-01 00:00:00

abstract：:Patients with restrictive cardiomyopathy (RC) have impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure. Primary RC is often sporadic, but also may be inherited in an autosomal dominant fashion, particularly the idiopathic forms. Recently ther...

journal_title：Clinical genetics

authors： Zhang J,Kumar A,Stalker HJ,Virdi G,Ferrans VJ,Horiba K,Fricker FJ,Wallace MR

更新日期：2001-04-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55...

journal_title：Clinical genetics

authors： Negri G,Milani D,Colapietro P,Forzano F,Della Monica M,Rusconi D,Consonni L,Caffi LG,Finelli P,Scarano G,Magnani C,Selicorni A,Spena S,Larizza L,Gervasini C

更新日期：2015-02-01 00:00:00

abstract：:SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...

journal_title：Clinical genetics

authors： Thomason A,Pankey E,Nutt B,Caffrey AR,Zarate YA

更新日期：2019-12-01 00:00:00

abstract：:Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases imp...

journal_title：Clinical genetics

authors： Kuijpers AL,Pfundt R,Zeeuwen PL,Molhuizen HO,Mariman EC,van de Kerkhof PC,Schalkwijk J

更新日期：1998-07-01 00:00:00

abstract：:Complex genetic diseases are often common: in most common diseases liability is influenced by genetic variation. The ways in which this variation is analyzed are discussed using diabetes, affective disorders and schizophrenia as examples. Molecular biology has opened new paths for a more incisive analysis of genetic h...

journal_title：Clinical genetics

authors： Vogel F

更新日期：1989-11-01 00:00:00

abstract：:Reassessment of the cytogenetics of a patient previously karyotyped as del(16)(q22) demonstrates the presence of a balanced translocation, t(4;16)(q35;q22.1). This patient should not be included in any future comparison involving the clinical features of patients with deletions of the long arm of chromosome 16. ...

journal_title：Clinical genetics

authors： Callen DF,Baker EG,Lane SA

更新日期：1990-12-01 00:00:00

abstract：:Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these conditions. The present study was performed to find whether the CDH23 mutations are al...

journal_title：Clinical genetics

authors： Wagatsuma M,Kitoh R,Suzuki H,Fukuoka H,Takumi Y,Usami S

更新日期：2007-10-01 00:00:00

abstract：:In this study, we examined the insertion/deletion (Ins/Del) and XbaI polymorphisms of the apolipoprotein B (APOB) gene and the -36delG polymorphism in the sterol regulatory element binding protein-1a (SREBP-1a) gene in 298 patients with non-diabetic angiographically assessed coronary artery disease (CAD), and 188 heal...

journal_title：Clinical genetics

authors： Rios DL,Vargas AF,Torres MR,Zago AJ,Callegari-Jacques SM,Hutz MH

更新日期：2003-05-01 00:00:00

abstract：:Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder that is characterized by prolonged corrected QT (QTc) interval. Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases. However, 10 other genes are now known to be implicated in LQTS. In this ...

journal_title：Clinical genetics

authors： Shinwari ZM,Al-Hazzani A,Dzimiri N,Tulbah S,Mallawi Y,Al-Fayyadh M,Al-Hassnan ZN

更新日期：2013-04-01 00:00:00

abstract：:Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...

journal_title：Clinical genetics

authors： Feuillet-Fieux MN,Ferrec M,Gigarel N,Thuillier L,Sermet I,Steffann J,Lenoir G,Bonnefont JP

更新日期：2004-04-01 00:00:00

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

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expressi...

journal_title：Clinical genetics

authors： Ray AK,Marazita ML,Pathak R,Beever CL,Cooper ME,Goldstein T,Shaw DF,Field LL

更新日期：2004-09-01 00:00:00

abstract：:Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

journal_title：Clinical genetics

authors： Jongkind JF,Verkerk A,Niermeijer MF

更新日期：1983-04-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankyloglossia. This study hypothesized a possible involvement of TBX22 in a fami...

journal_title：Clinical genetics

authors： Pauws E,Peskett E,Boissin C,Hoshino A,Mengrelis K,Carta E,Abruzzo MA,Lees M,Moore GE,Erickson RP,Stanier P

更新日期：2013-04-01 00:00:00

abstract：:One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and sal...

journal_title：Clinical genetics

authors： Gibson SL,Ferguson-Smith MA

更新日期：1980-08-01 00:00:00

abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 00:00:00

abstract：:A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary ...

journal_title：Clinical genetics

authors： Schmid M,Schindler D,Haaf T

更新日期：1986-07-01 00:00:00