Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis.

abstract：:We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the Netherlands, exclusion PND is available for persons at 50% risk, whereas exclusion PGD is not allowed. All 162 couples who underwent PND or PGD for ...

journal_title：Clinical genetics

authors： van Rij MC,de Koning Gans PA,van Belzen MJ,Roos RA,Geraedts JP,De Rademaeker M,Bijlsma EK,de Die-Smulders CE

更新日期：2014-01-01 00:00:00

abstract：:The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non-collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non-syndromic form of hereditary dentin ...

journal_title：Clinical genetics

authors： Lee KE,Kang HY,Lee SK,Yoo SH,Lee JC,Hwang YH,Nam KH,Kim JS,Park JC,Kim JW

更新日期：2011-04-01 00:00:00

abstract：:Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

journal_title：Clinical genetics

authors： Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

更新日期：2018-03-01 00:00:00

abstract：:PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 1...

journal_title：Clinical genetics

authors： Chung BK,Gibson WT

更新日期：2014-03-01 00:00:00

abstract：:Triglyceride synthesis is catalyzed by acyl CoA:diacylglycerol acyltransferases (DGAT), microsomal enzymes that use diacylglycerol and fatty acyl CoAs as substrates. Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that ...

journal_title：Clinical genetics

authors： Ludwig EH,Mahley RW,Palaoglu E,Ozbayrakçi S,Balestra ME,Borecki IB,Innerarity TL,Farese RV Jr

更新日期：2002-07-01 00:00:00

abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...

journal_title：Clinical genetics

authors： Hoo JJ

更新日期：1992-03-01 00:00:00

abstract：:An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in genera...

journal_title：Clinical genetics

authors： Cohen MM Jr,Kreiborg S

更新日期：1992-01-01 00:00:00

abstract：:The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...

journal_title：Clinical genetics

authors： Pertesi M,Konstantopoulou I,Yannoukakos D

更新日期：2011-10-01 00:00:00

abstract：:To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were ...

journal_title：Clinical genetics

authors： Antley RM,Hartlage LC

更新日期：1976-03-01 00:00:00

abstract：:This report describes the clinical and investigative findings in a 31-year-old man with Hunter's syndrome, showing evidence of severe multisystem involvement. Papilloedema has been present for at least 8 years with no evidence of progressive visual impairment. His most serious and life-threatening complications are la...

journal_title：Clinical genetics

authors： Young ID,Harper PS

更新日期：1979-08-01 00:00:00

abstract：:From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...

journal_title：Clinical genetics

authors： Defesche JC,van de Ree MA,Kastelein JJ,van Diermen DE,Janssens NW,van Doormaal JJ,Hayden MR

更新日期：1992-12-01 00:00:00

abstract：:Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one...

journal_title：Clinical genetics

authors： Harris EL,Wappner RS,Palmer CG,Hall B,Dinno N,Seashore MR,Breg WR

更新日期：1977-10-01 00:00:00

abstract：:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) lev...

journal_title：Clinical genetics

authors： Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu X

更新日期：2020-05-01 00:00:00

abstract：:A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46,XY,inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a...

journal_title：Clinical genetics

authors： Winsor EJ,Welch JP

更新日期：1983-12-01 00:00:00

abstract：:Plasma lipid and serum apoprotein concentrations were determined in twenty-nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a g...

journal_title：Clinical genetics

authors： Ginsberg H,Grabowski GA,Gibson JC,Fagerstrom R,Goldblatt J,Gilbert HS,Desnick RJ

更新日期：1984-08-01 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

authors： Yates TM,Turner CL,Firth HV,Berg J,Pilz DT

更新日期：2017-07-01 00:00:00

abstract：:Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a nov...

journal_title：Clinical genetics

authors： Bell M,Biesecker BB,Bodurtha J,Peay HL

更新日期：2019-06-01 00:00:00

abstract：:Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To date, at least eight isolated autosomal recessive and dominant forms of hypotrichosis loci have been mapped on different human chromosomes, and the co...

journal_title：Clinical genetics

authors： Basit S,Wali A,Aziz A,Muhammad N,Jelani M,Ahmad W

更新日期：2011-03-01 00:00:00

abstract：:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...

journal_title：Clinical genetics

authors： Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

更新日期：1977-05-01 00:00:00

abstract：:The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...

journal_title：Clinical genetics

authors： Lonardo F,Lonardo MS,Acquaviva F,Della Monica M,Scarano F,Scarano G

更新日期：2019-02-01 00:00:00

abstract：:An unusual variant of chromosome 6 was shown to be a dic(6) by use of the chromosome specific alphoid probe, p308. The use of biotinylated repeat probes provides a rapid procedure for the resolution of some cytogenetic abnormalities. ...

journal_title：Clinical genetics

authors： Callen DF,Eyre HJ,Ringenbergs ML

更新日期：1990-02-01 00:00:00

abstract：:This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...

journal_title：Clinical genetics

authors： Su PH,Liu YF,Yu JS,Chen JY,Chen SJ,Lai YJ

更新日期：2012-11-01 00:00:00

abstract：:Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...

journal_title：Clinical genetics

authors： Broman M,Kleinschnitz I,Bach JE,Rost S,Islander G,Müller CR

更新日期：2015-10-01 00:00:00

abstract：:Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait. ...

journal_title：Clinical genetics

authors： Cornell J,Sellars S,Beighton P

更新日期：1984-02-01 00:00:00

abstract：:CuZnSOD is produced in overdose in cells with trisomy 21. This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, ca...

journal_title：Clinical genetics

authors： Crosti N,Bajer J,Gentile M,Resta G,Serra A

更新日期：1989-08-01 00:00:00

abstract：:We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...

journal_title：Clinical genetics

authors： Gehring B,Mornet E,Plath H,Hansmann M,Bartmann P,Brenner RE

更新日期：1999-10-01 00:00:00

abstract：:A role for BRCA1 and BRCA2 in the control of genome integrity easily fits a tumor suppressor model. It is well established that mutations in DNA repair genes lead to genomic instability (138). Genomic instability may directly lead to tumorigenesis by allowing for the accumulation of mutations in key cell cycle regulat...

journal_title：Clinical genetics

authors： Welcsh PL,Schubert EL,King MC

更新日期：1998-12-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. Overall, TSC2 mutations are associated with a more severe disease phenotype. We identified the c.3598C>T (R1200W) cha...

journal_title：Clinical genetics

authors： Wentink M,Nellist M,Hoogeveen-Westerveld M,Zonnenberg B,van der Kolk D,van Essen T,Park SM,Woods G,Cohn-Hokke P,Brussel W,Smeets E,Brooks A,Halley D,van den Ouweland A,Maat-Kievit A

更新日期：2012-05-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

journal_title：Clinical genetics

authors： Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

更新日期：1990-08-01 00:00:00

abstract：:Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid between (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn aneuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies...

journal_title：Clinical genetics

authors： Davis JR,Rogers BB,Hagaman RM,Thies CA,Veomett IC

更新日期：1985-01-01 00:00:00