A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22.

abstract：:In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of...

journal_title：Clinical genetics

authors： Ghadirian P,Robidoux A,Zhang P,Royer R,Akbari M,Zhang S,Fafard E,Costa M,Martin G,Potvin C,Patocskai E,Larouche N,Younan R,Nassif E,Giroux S,Narod SA,Rousseau F,Foulkes WD

更新日期：2009-11-01 00:00:00

abstract：:Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT). To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported ca...

journal_title：Clinical genetics

authors： Schüle B,Armstrong DD,Vogel H,Oviedo A,Francke U

更新日期：2008-08-01 00:00:00

abstract：:Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...

journal_title：Clinical genetics

authors： Roifman M,Marcelis CL,Paton T,Marshall C,Silver R,Lohr JL,Yntema HG,Venselaar H,Kayserili H,van Bon B,Seaward G,FORGE Canada Consortium.,Brunner HG,Chitayat D

更新日期：2015-01-01 00:00:00

abstract：:Approximately one in 500 individuals in Western population has autosomal dominant familial hypercholesterolemia due to mutations in the low-density lipoprotein receptor (LDLR) gene. Screening for these mutations is hampered by their large number, except in founder populations. We identified the breakpoint of the >15 k...

journal_title：Clinical genetics

authors： Simard LR,Viel J,Lambert M,Paradis G,Levy E,Delvin EE,Mitchell GA

更新日期：2004-03-01 00:00:00

abstract：:The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up. ...

journal_title：Clinical genetics

authors： Sander C,Niederhoff H,Horn N

更新日期：1988-03-01 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：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

journal_title：Clinical genetics

authors： Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A

更新日期：2008-02-01 00:00:00

abstract：:We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal transmission to the fetus. The fetus carried the PKD1 haplotype and was, therefore a gene carrier. Progressive hyperechogenic renal enlargement, but no cysts, was doc...

journal_title：Clinical genetics

authors： Jeffery S,Saggar-Malik AK,Economides DL,Blackmore SE,MacDermot KD

更新日期：1998-04-01 00:00:00

abstract：:A clinical, pathological and genetic study was made of 50 patients with retinoblastoma in the Newcastle Hospital region over the period 1931-1970 inclusive. Twenty-seven patients were affected in one eye only; 23 had bilateral tumours. The incidence of the tumour was approximately 1:16,000 live births. Bilateral cases...

journal_title：Clinical genetics

authors： Aherne GE,Roberts DF

更新日期：1975-10-01 00:00:00

abstract：:Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications ar...

journal_title：Clinical genetics

authors： Cobben JM,van Essen AJ,McParland PC,Polman HA,ten Kate LP

更新日期：1992-02-01 00:00:00

abstract：:A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...

journal_title：Clinical genetics

authors： Eberhard G

更新日期：1981-05-01 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：: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：: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：: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：:This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Wor...

journal_title：Clinical genetics

authors： Lim Q,McGill BC,Quinn VF,Tucker KM,Mizrahi D,Patenaude AF,Warby M,Cohn RJ,Wakefield CE

更新日期：2017-12-01 00:00:00

abstract：:This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped head...

journal_title：Clinical genetics

authors： Escobar V,Bixler D

更新日期：1977-09-01 00:00:00

abstract：:A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic feat...

journal_title：Clinical genetics

authors： Casey PA,Clark CE,Cowell HR

更新日期：1981-07-01 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：: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：:The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...

journal_title：Clinical genetics

authors： Kaneko K,Saito F,Sunohara N,Ikeuchi T

更新日期：1995-03-01 00:00:00

abstract：:In order to increase the efficiency of the Magiscan metaphase location and karyotyping system, its software and mode of operation have been changed. In the new multiple-cell karyotyping method, interactions by the operator are only required for relocation and counting of metaphases, but not for karyotyping. Metaphases...

journal_title：Clinical genetics

authors： Lundsteen C,Gerdes T,Maahr J

更新日期：1991-05-01 00:00:00

abstract：:The hypothalamus plays a critical role in the regulation of food intake and body weight, and recent work has defined a core circuitry in the hypothalamus that appears to mediate many of the effects of the adipocyte-derived hormone leptin on feeding and glucose homeostasis. However, until recently, little was known abo...

journal_title：Clinical genetics

authors： Bouret SG,Simerly RB

更新日期：2006-10-01 00:00:00

abstract：:A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...

journal_title：Clinical genetics

authors： Gehrke SG,Pietrangelo A,Kascák M,Braner A,Eisold M,Kulaksiz H,Herrmann T,Hebling U,Bents K,Gugler R,Stremmel W

更新日期：2005-05-01 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：:Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is in...

journal_title：Clinical genetics

authors： Kantaputra PN,Carlson BM

更新日期：2019-01-01 00:00:00

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：:Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight...

journal_title：Clinical genetics

authors： Stojiljkovic M,Klaassen K,Djordjevic M,Sarajlija A,Brasil S,Kecman B,Grkovic S,Kostic J,Rodriguez-Pombo P,Desviat LR,Pavlovic S,Perez B

更新日期：2016-09-01 00:00:00

abstract：:Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form...

journal_title：Clinical genetics

authors： Aller E,Jaijo T,Oltra S,Alió J,Galán F,Nájera C,Beneyto M,Millán JM

更新日期：2004-12-01 00:00:00