Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

abstract：:In a study of xanthomatosis in the county of Ostfold, Norway (approximately 220,000 inhabitants), it was found that 20% (37 out of 185) of the probands belonges to seven large kindreds where xanthomatosis and hyper-beta-lipoproteinaemia segregated. Almost complete ascertainment (99%) of living subjects in the sibships...

journal_title：Clinical genetics

authors： Heiberg A

更新日期：1976-01-01 00:00:00

abstract：:It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and...

journal_title：Clinical genetics

authors： Gold RJ,Rose V,Yau Y

更新日期：1987-09-01 00:00:00

abstract：:Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...

journal_title：Clinical genetics

authors： Porter LF,Black GC

更新日期：2014-07-01 00:00:00

abstract：:Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to p...

journal_title：Clinical genetics

authors： Kokotas H,Petersen MB

更新日期：2010-05-01 00:00:00

abstract：:A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed...

journal_title：Clinical genetics

authors： van de Kamp JJ,Niermeijer MF,von Figura K,Giesberts MA

更新日期：1981-08-01 00:00:00

abstract：:The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic ...

journal_title：Clinical genetics

authors： Eisen S,Neuman R,Goldberg J,Rice J,True W

更新日期：1989-06-01 00:00:00

abstract：:Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes...

journal_title：Clinical genetics

authors： Ozgen HM,van Daalen E,Bolton PF,Maloney VK,Huang S,Cresswell L,van den Boogaard MJ,Eleveld MJ,van 't Slot R,Hochstenbach R,Beemer FA,Barrow M,Barber JC,Poot M

更新日期：2009-10-01 00:00:00

abstract：:We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...

journal_title：Clinical genetics

authors： Michelakakis H,Dimitriou E,Bartsocas C,Skardoutsou A,Giouroukos S

更新日期：1990-01-01 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：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 00:00:00

abstract：:A number of studies have reported on possible relationships between a hypervariable sequence near the 5' end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy-Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random in...

journal_title：Clinical genetics

authors： Hubbard AL,Clayton JF

更新日期：1986-10-01 00:00:00

abstract：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...

journal_title：Clinical genetics

authors： Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

更新日期：2019-12-01 00:00:00

abstract：:The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy contro...

journal_title：Clinical genetics

authors： Mukherjee M,Shetty KR

更新日期：2004-05-01 00:00:00

abstract：:Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We rep...

journal_title：Clinical genetics

authors： McHale D,Porteous ME,Wentzel J,Burn J

更新日期：1996-12-01 00:00:00

abstract：:A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in fallin...

journal_title：Clinical genetics

authors： Morley DJ,Weaver DD,Garg BP,Markand O

更新日期：1982-06-01 00:00:00

abstract：:Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but t...

journal_title：Clinical genetics

authors： Hutchin T,Coy NN,Conlon H,Telford E,Bromelow K,Blaydon D,Taylor G,Coghill E,Brown S,Trembath R,Liu XZ,Bitner-Glindzicz M,Mueller R

更新日期：2005-12-01 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：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...

journal_title：Clinical genetics

authors： Mononen T,von Koskull H,Airaksinen RL,Juvonen V

更新日期：2007-12-01 00:00:00

abstract：:Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings a...

journal_title：Clinical genetics

authors： Silengo MC,Bell GL,Biagioli M,Franceschini P

更新日期：1987-05-01 00:00:00

abstract：:The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combi...

journal_title：Clinical genetics

authors： Patsalis PC,Sismani C,Hadjimarcou MI,Kitsiou-Tzeli S,Tzezou A,Hadjiathanasiou CG,Velissariou V,Lymberatou E,Moschonas NK,Skordis N

更新日期：1998-04-01 00:00:00

abstract：:Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of...

journal_title：Clinical genetics

authors： Black ME,Hedgire SS,Camposano S,Paul E,Harisinghani M,Thiele EA

更新日期：2012-12-01 00:00:00

abstract：:We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which...

journal_title：Clinical genetics

authors： Goldblatt J,Smart RD

更新日期：1986-05-01 00:00:00

abstract：BACKGROUND:Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS:Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared...

journal_title：Clinical genetics

authors： Burgel PR,Fajac I,Hubert D,Grenet D,Stremler N,Roussey M,Siret D,Languepin J,Mely L,Fanton A,Labbé A,Domblides P,Vic P,Dagorne M,Reynaud-Gaubert M,Counil F,Varaigne F,Bienvenu T,Bellis G,Dusser D

更新日期：2010-04-01 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：:The status of H-Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). In all these subjects, fluorescent staining an...

journal_title：Clinical genetics

authors： Ghosh SN,Shah PN,Gharpure HM,Athreya U

更新日期：1978-07-01 00:00:00

abstract：:Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...

journal_title：Clinical genetics

authors： Papenhausen PR,Mueller OT,Bercu B,Salazar J,Tedesco TA

更新日期：1991-09-01 00:00:00

abstract：:In all known congenital imprinting disorders an association with aberrant methylation or mutations at specific loci was well established. However, several patients with transient neonatal diabetes mellitus (TNDM), Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) exhibiting multilocus hypomethylation...

journal_title：Clinical genetics

authors： Begemann M,Spengler S,Kanber D,Haake A,Baudis M,Leisten I,Binder G,Markus S,Rupprecht T,Segerer H,Fricke-Otto S,Mühlenberg R,Siebert R,Buiting K,Eggermann T

更新日期：2011-07-01 00:00:00

abstract：:The anti-atherogenic effect of cholesteryl ester transfer protein (CETP) genetic variants associated with lowered enzyme activity is controversial. Moreover, in a few studies, this effect has been evaluated in the presence of a certain risk factor constellation. We addressed this issue in a case-control study, where 4...

journal_title：Clinical genetics

authors： Arca M,Montali A,Ombres D,Battiloro E,Campagna F,Ricci G,Verna R

更新日期：2001-11-01 00:00:00

abstract：:The reliable evaluation of chromosomal mosaics is still considered to be difficult in clinical diagnosis if aberrant metaphases are only present at low frequencies. Classical cytogenetic findings cannot significantly exclude low mosaic levels, obviously, because of the relatively low number of analyzed metaphases. To ...

journal_title：Clinical genetics

authors： Schliephacke M,Maier CI,Majlinger G,Tomiuk J,Leipoldt M,Kaiser P

更新日期：1996-08-01 00:00:00

abstract：:Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic dia...

journal_title：Clinical genetics

authors： Seong MW,Cho A,Park HW,Seo SH,Lim BC,Seol D,Cho SI,Park SS,Chae JH

更新日期：2016-04-01 00:00:00