A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.

abstract：:Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...

journal_title：Clinical genetics

authors： Schönewolf-Greulich B,Tejada MI,Stephens K,Hadzsiev K,Gauthier J,Brøndum-Nielsen K,Pfundt R,Ravn K,Maortua H,Gener B,Martínez-Bouzas C,Piton A,Rouleau G,Clayton-Smith J,Kleefstra T,Bisgaard AM,Tümer Z

更新日期：2016-06-01 00:00:00

abstract：:We assessed the association between breast cancer (BC) and colorectal cancer (CRC) from referral pattern to the Regional Genetics Service including molecular analysis. Hospital computer records and/or department referral books were used to identify cases referred to the Regional Genetic Service during a 16-year period...

journal_title：Clinical genetics

authors： Naseem H,Boylan J,Speake D,Leask K,Shenton A,Lalloo F,Hill J,Trump D,Evans DG

更新日期：2006-11-01 00:00:00

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 clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...

journal_title：Clinical genetics

authors： Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann E

更新日期：2020-10-01 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：:Several sequence variations were examined for being endogenous "risk markers" in the development of CHD. The "markers" in this study included: the PstI-SstI RFLPs in the apo AI-CIII gene cluster, the EcoRI-MspI RFLPs in the apo B100 gene and the SstI RFLP in the 5' flanking region of the insulin gene. The study popula...

journal_title：Clinical genetics

authors： Wick U,Witt E,Engel W

更新日期：1995-04-01 00:00:00

abstract：:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1. ...

journal_title：Clinical genetics

authors： Czeizel A,Szentesi I,Horváth L

更新日期：1983-08-01 00:00:00

abstract：:This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a larg...

journal_title：Clinical genetics

authors： Doukas DJ,Localio AR,Li Y

更新日期：2004-11-01 00:00:00

abstract：:The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium-mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH ...

journal_title：Clinical genetics

authors： Nakayama T,Soma M,Takahashi Y,Izumi Y,Kanmatsuse K,Esumi M

更新日期：1997-01-01 00:00:00

abstract：:Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E-D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteine...

journal_title：Clinical genetics

authors： Utermann G,Vogelberg KH,Steinmetz A,Schoenborn W,Pruin N,Jaeschke M,Hees M,Canzler H

更新日期：1979-01-01 00:00:00

abstract：:FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...

journal_title：Clinical genetics

authors： Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

更新日期：2020-05-01 00:00:00

abstract：:Complex genetic diseases are often common: in most common diseases liability is influenced by genetic variation. The ways in which this variation is analyzed are discussed using diabetes, affective disorders and schizophrenia as examples. Molecular biology has opened new paths for a more incisive analysis of genetic h...

journal_title：Clinical genetics

authors： Vogel F

更新日期：1989-11-01 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：:Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyze...

journal_title：Clinical genetics

authors： Fan Y,Liu A,Wei C,Yang H,Chang X,Wang S,Yuan Y,Bonnemann C,Wu Q,Wu X,Xiong H

更新日期：2018-06-01 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：:We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq...

journal_title：Clinical genetics

authors： Jakubowski L,Jeziorowska A,Constantinou M,Kałuzewski B

更新日期：2000-04-01 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

abstract：:Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...

journal_title：Clinical genetics

authors： Reis LM,Costakos D,Wheeler PG,Bardakjian T,Schneider A,Fung SSM,University of Washington Center for Mendelian Genomics.,Semina EV

更新日期：2020-12-13 00:00:00

abstract：:The effects of apolipoprotein (apo) A-IV genotype on serum glucose, total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and glucose concentrations were ascertained in a population of 373 men and 361 women with a mean age of about 57 years. Subjects wer...

journal_title：Clinical genetics

authors： Larson IA,Ordovas JM,Sun Z,Barnard,Lohrmann J,Feussner G,Lamon-Fava S,Schaefer EJ

更新日期：2002-06-01 00:00:00

abstract：:NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de no...

journal_title：Clinical genetics

authors： Lévy J,Grotto S,Mignot C,Maruani A,Delahaye-Duriez A,Benzacken B,Keren B,Haye D,Xavier J,Heulin M,Charles E,Verloes A,Dupont C,Pipiras E,Tabet AC

更新日期：2018-08-01 00:00:00

abstract：BACKGROUND:Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS:Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS:While...

journal_title：Clinical genetics

authors： Ozyilmaz B,Kirbiyik O,Koc A,Ozdemir TR,Kaya OO,Guvenc MS,Erdoğan KM,Kutbay YB

更新日期：2017-10-01 00:00:00

abstract：:Apolipoprotein C3 (APOC3) mutations carriers typically display high plasma high-density lipoprotein cholesterol (HDL-C) and low triglycerides (TGs). We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. Two novel mutations (c.-13-2A>G and c...

journal_title：Clinical genetics

authors： Bochem AE,van Capelleveen JC,Dallinga-Thie GM,Schimmel AW,Motazacker MM,Tietjen I,Singaraja RR,Hayden MR,Kastelein JJ,Stroes ES,Hovingh GK

更新日期：2014-05-01 00:00:00

abstract：:Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic ...

journal_title：Clinical genetics

authors： Romdhane L,Messaoud O,Bouyacoub Y,Kerkeni E,Naouali C,Cherif Ben Abdallah L,Tiar A,Charfeddine C,Monastiri K,Chabchoub I,Hachicha M,Tadmouri GO,Romeo G,Abdelhak S

更新日期：2016-03-01 00:00:00

abstract：:It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...

journal_title：Clinical genetics

authors： Modell B,Kuliev AM

更新日期：1989-11-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...

journal_title：Clinical genetics

authors： Tan AY,Blumenfeld J,Michaeel A,Donahue S,Bobb W,Parker T,Levine D,Rennert H

更新日期：2015-04-01 00:00:00

abstract：:This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...

journal_title：Clinical genetics

authors： Back E,Toder R,Voiculescu I,Wildberg A,Schempp W

更新日期：1994-06-01 00:00:00

abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...

journal_title：Clinical genetics

authors： Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JL

更新日期：2009-06-01 00:00:00

abstract：:An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...

journal_title：Clinical genetics

authors： Wallis CE,Shun-Shin M,Beighton PH

更新日期：1988-07-01 00:00:00

abstract：:Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick ca...

journal_title：Clinical genetics

authors： García-Cruz D,Figuera LE,Feria-Velazco A,Sánchez-Corona J,García-Cruz MO,Ramírez-Duenãs RM,Hernandez-Córdova A,Ruiz MX,Bitar-Alatorre WE,Ramírez-Dueñas ML

更新日期：1993-10-01 00:00:00