Osteoarthropathia psoriatica of one leg: a manifestation of somatic mosaicism?

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：:Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient sh...

journal_title：Clinical genetics

authors： Calabrese G,Giannotti A,Mingarelli R,Di Gilio MC,Piemontese MR,Palka G

更新日期：1997-04-01 00:00:00

abstract：:From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....

journal_title：Clinical genetics

authors： Bisgaard ML,Eiberg H,Møller N,Niebuhr E,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:The interaction between the lipoprotein carrying the Lp(a) antigen, i.e. the Lp(a) lipoprotein, and agarose gels substituted with glycosaminoglycans, as well as the precipitation of the Lp(a) lipoprotein by Ca++ were studied. Comparisons between Lp(a) lipoprotein and other serum lipoproteins were conducted. Very low d...

journal_title：Clinical genetics

authors： Ericson C,Dahlén G,Berg K

更新日期：1977-06-01 00:00:00

abstract：:Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). The molecular underpinnings of EPP in Middle Eastern populations and relative to other ethnic groups secondary to increased consanguinity are unknown. To understand the molecular pathogen...

journal_title：Clinical genetics

authors： Kadara H,Nemer G,Safi R,Rebeiz N,Daou L,Delbani D,Btadini W,Abbas O,Tofaili M,Bitar F,Kibbi AG,Shimomura Y,Kurban M

更新日期：2017-11-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testin...

journal_title：Clinical genetics

authors： Jezela-Stanek A,Małunowicz EM,Ciara E,Popowska E,Goryluk-Kozakiewicz B,Spodar K,Czerwiecka M,Jezuita J,Nowaczyk MJ,Krajewska-Walasek M

更新日期：2006-01-01 00:00:00

abstract：:The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...

journal_title：Clinical genetics

authors： Oelbaum RS

更新日期：1992-11-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored ou...

journal_title：Clinical genetics

authors： Delvallée C,Nicaise S,Antin M,Leuvrey AS,Nourisson E,Leitch CC,Kellaris G,Stoetzel C,Geoffroy V,Scheidecker S,Keren B,Depienne C,Klar J,Dahl N,Deleuze JF,Génin E,Redon R,Demurger F,Devriendt K,Mathieu-Dramard M,Po

更新日期：2021-02-01 00:00:00

abstract：:In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...

journal_title：Clinical genetics

authors： Magnus P,Magnus EM,Berg K

更新日期：1991-04-01 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：:The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings ...

journal_title：Clinical genetics

authors： Priolo M,Silengo M,Lerone M,Ravazzolo R

更新日期：2000-12-01 00:00:00

abstract：:Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZE...

journal_title：Clinical genetics

authors： Engenheiro E,Møller RS,Pinto M,Soares G,Nikanorova M,Carreira IM,Ullmann R,Tommerup N,Tümer Z

更新日期：2008-06-01 00:00:00

abstract：:Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...

journal_title：Clinical genetics

authors： Schnakenberg E,Ehlers C,Feyerabend W,Werdin R,Hübotter R,Dreikorn K,Schloot W

更新日期：1998-05-01 00:00:00

abstract：:Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in t...

journal_title：Clinical genetics

authors： Koster JF,Niermeijer MF,Loonen MC,Gajaard H

更新日期：1976-04-01 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

abstract：:Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardi...

journal_title：Clinical genetics

authors： Saenen JB,Van Craenenbroeck EM,Proost D,Marchau F,Van Laer L,Vrints CJ,Loeys BL

更新日期：2015-08-01 00:00:00

abstract：:A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals st...

journal_title：Clinical genetics

authors： Yarbrough KM,Howard-Peebles PN

更新日期：1976-02-01 00:00:00

abstract：:The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...

journal_title：Clinical genetics

authors： Rivera H,Vásquez AI,Perea FJ

更新日期：1999-02-01 00:00:00

abstract：:Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1-q21. ATP7A encodes a copper-transporting P-type ATPase and plays a critical role in development of the central nervous system. With rare exceptions involving sex chromosome aneuploidy o...

journal_title：Clinical genetics

authors： Desai V,Donsante A,Swoboda KJ,Martensen M,Thompson J,Kaler SG

更新日期：2011-02-01 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：:HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less tha...

journal_title：Clinical genetics

authors： Milman N,Graudal N,Nielsen LS,Fenger K

更新日期：1992-01-01 00:00:00

abstract：:SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 1...

journal_title：Clinical genetics

authors： Almannai M,Alasmari A,Alqasmi A,Faqeih E,Al Mutairi F,Alotaibi M,Samman MM,Eyaid W,Aljadhai YI,Shamseldin HE,Craigen W,Alkuraya FS

更新日期：2018-05-01 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：:Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and axonal forms (CMT2). CMT2 is further subdivided by linkage analysis into eight subgroups. Recently, mutations in the MFN2 gene, which encodes the mitochondrial GTPase mitofusin 2 (Mfn2) that regulates the mitochondrial network...

journal_title：Clinical genetics

authors： Cho HJ,Sung DH,Kim BJ,Ki CS

更新日期：2007-03-01 00:00:00

abstract：:Large-scale genomic characterization of non-small cell lung cancer (NSCLC) has revealed several putative oncogenic driver mutations that may constitute druggable therapeutic targets. However, there are little data to suggest that such gene alterations have clinical relevance. Over 12 consecutive months, tumor biopsy s...

journal_title：Clinical genetics

authors： Li F,Du X,Zhang H,Ju T,Chen C,Qu Q,Zhang X,Qi L,Lizée G

更新日期：2017-03-01 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：:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from ...

journal_title：Clinical genetics

authors： Skre H,Berg K

更新日期：1977-01-01 00:00:00

abstract：:Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...

journal_title：Clinical genetics

authors： Silengo MC,Luzzatti L,Centerwall WR,Costello JM,Parslow M

更新日期：1981-03-01 00:00:00

abstract：:Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation ...

journal_title：Clinical genetics

authors： Eggington JM,Bowles KR,Moyes K,Manley S,Esterling L,Sizemore S,Rosenthal E,Theisen A,Saam J,Arnell C,Pruss D,Bennett J,Burbidge LA,Roa B,Wenstrup RJ

更新日期：2014-09-01 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

authors： Wada T,Matsuda Y,Muraoka M,Toma T,Takehara K,Fujimoto M,Yachie A

更新日期：2014-10-01 00:00:00