Neurological and endocrine phenotypes of fragile X carrier women.

abstract：:Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...

journal_title：Clinical genetics

authors： Zhang HD,Jiang LH,Zhong SL,Li J,Sun DW,Hou JC,Wang DD,Zhou SY,Tang JH

更新日期：2021-01-01 00:00:00

abstract：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

journal_title：Clinical genetics

authors： Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

更新日期：2002-08-01 00:00:00

abstract：BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...

journal_title：Clinical genetics

authors： Tsai PC,Tsai YS,Soong BW,Huang YH,Wu HT,Chen YH,Lin KP,Liao YC,Lee YC

更新日期：2017-08-01 00:00:00

abstract：:GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine k...

journal_title：Clinical genetics

authors： Khademian H,Mehravar E,Urtizberea J,Sagoo S,Sandoval L,Carbajo R,Darvish B,Valles-Ayoub Y,Darvish D

更新日期：2013-12-01 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：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00

abstract：:Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formati...

journal_title：Clinical genetics

authors： Andelfinger G

更新日期：2008-06-01 00:00:00

abstract：:Allogeneic bone marrow transplantation was carried out in an 81-day-old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and beta-galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurol...

journal_title：Clinical genetics

authors： O'Brien JS,Storb R,Raff RF,Harding J,Appelbaum F,Morimoto S,Kishimoto Y,Graham T,Ahern-Rindell A,O'Brien SL

更新日期：1990-10-01 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：:Phenotypic expression of the 47,XYY chromosome complement in man has been investigated mostly in terms of the central nervous system. Evidence is presented here to suggest that urinary tract malformation may be a component of the XYY syndrome; this should be taken into account when counselling parents of children wit...

journal_title：Clinical genetics

authors： Machin GA

更新日期：1978-12-01 00:00:00

abstract：:Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consan...

journal_title：Clinical genetics

authors： Hoyer J,Kraus C,Hammersen G,Geppert JP,Rauch A

更新日期：2009-09-01 00:00:00

abstract：:A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family report...

journal_title：Clinical genetics

authors： Shabtai F,Sandowski U,Nissimov R,Klar D,Halbrecht I

更新日期：1985-06-01 00:00:00

abstract：:Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The ai...

journal_title：Clinical genetics

authors： Piard J,Aral B,Vabres P,Holder-Espinasse M,Mégarbané A,Gauthier S,Capra V,Pierquin G,Callier P,Baumann C,Pasquier L,Baujat G,Martorell L,Rodriguez A,Brady AF,Boralevi F,González-Enseñat MA,Rio M,Bodemer C,Philip N,

更新日期：2015-03-01 00:00:00

abstract：:Alzheimer's Disease (AD) is a devastating disease that affects millions of elderly persons. Despite years of intense investigations, genetic risk factors that affect the majority of AD cases have yet to be determined. Recent studies suggest that cholesterol metabolism has integral part in AD pathogenesis, suggesting t...

journal_title：Clinical genetics

authors： Wellington CL

更新日期：2004-07-01 00:00:00

abstract：:Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...

journal_title：Clinical genetics

authors： Deget F,Rudnik-Schöneborn S,Zerres K

更新日期：1995-05-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 00:00:00

abstract：:Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. ...

journal_title：Clinical genetics

authors： Namba M,Nakatsuka S,Etoh H,Kataoka N,Kimoto T

更新日期：1988-09-01 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：: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

authors： Stein CK,Stred SE,Thomson LL,Smith FC,Hoo JJ

更新日期：1996-06-01 00:00:00

abstract：:For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including ...

journal_title：Clinical genetics

authors： Tavakolpour S,Darvishi M,Ghasemiadl M

更新日期：2018-03-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of ...

journal_title：Clinical genetics

authors： Marchini C,Lonigro R,Verriello L,Pellizzari L,Bergonzi P,Damante G

更新日期：2000-01-01 00:00:00

abstract：:Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SC...

journal_title：Clinical genetics

authors： Liu A,Xu X,Yang X,Jiang Y,Yang Z,Liu X,Wu Y,Wu X,Wei L,Zhang Y

更新日期：2017-01-01 00:00:00

abstract：:Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome...

journal_title：Clinical genetics

authors： Najjar SS,Der Kaloustian VM,Ardati KO

更新日期：1984-10-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...

journal_title：Clinical genetics

authors： Ashkinadze E,Rosen T,Brooks SS,Katsanis N,Davis EE

更新日期：2013-06-01 00:00:00

abstract：:To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...

journal_title：Clinical genetics

authors： Denayer L,Welkenhuysen M,Evers-Kiebooms G,Cassiman JJ,Van den Berghe H

更新日期：1996-05-01 00:00:00

abstract：:Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...

journal_title：Clinical genetics

authors： Moizard MP,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

更新日期：2011-03-01 00:00:00

abstract：:The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

journal_title：Clinical genetics

authors： Michno K,van de Hoef D,Wu H,Boulianne GL

更新日期：2005-06-01 00:00:00

abstract：:A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. BRCA1 mutation was revealed in ...

journal_title：Clinical genetics

authors： Janiszewska H,Haus O,Lauda-Swieciak A,Pasińska M,Laskowski R,Szymański W,Górski B,Lubiński J

更新日期：2003-12-01 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：:A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation c...

journal_title：Clinical genetics

authors： Gebauer HJ,Stumpf B,Hansmann I,Grimm T

更新日期：1978-12-01 00:00:00