Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility.

abstract：:Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge mea...

journal_title：Clinical genetics

authors： Fitzgerald-Butt SM,Bodine A,Fry KM,Ash J,Zaidi AN,Garg V,Gerhardt CA,McBride KL

更新日期：2016-02-01 00:00:00

abstract：:Most but not all epidemiologic studies have shown that lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease (CVD). Lp(a) levels are also strongly genetically influenced. The purpose of this study was to evaluate the association between Lp(a) levels in adult offspring and parental CVD mortality in 61 kind...

journal_title：Clinical genetics

authors： Kim H,Marcovina SM,Edwards KL,McKnight B,Bradley CM,McNeely MJ,Psaty BM,Motulsky AG,Austin MA

更新日期：2001-09-01 00:00:00

abstract：:Details are presented of a boy with partial lipodystrophy. Only one male case has previously been described with this condition. The spectrum of partial lipodystrophy syndromes and the inheritance thereof are discussed in relation to our case. ...

journal_title：Clinical genetics

authors： Reardon W,Temple IK,Mackinnon H,Leonard JV,Baraitser M

更新日期：1990-11-01 00:00:00

abstract：:We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...

journal_title：Clinical genetics

authors： Morelli SH,Deubler DA,Brothman LJ,Carey JC,Brothman AR

更新日期：1999-05-01 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

abstract：:In this review, we consider the motivation behind contemporary single nucleotide polymorphism (SNP) initiatives. Many of these initiatives are projected to involve large, population-based surveys. We therefore emphasize the utility of SNPs for genetic epidemiology studies. We start by offering an overview of genetic p...

journal_title：Clinical genetics

authors： Schork NJ,Fallin D,Lanchbury JS

更新日期：2000-10-01 00:00:00

abstract：:Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a...

journal_title：Clinical genetics

authors： Tong H,Jin Y,Xu Y,Zou B,Ye H,Wu H,Kumar S,Pitman JL,Zhou G,Song Q

更新日期：2016-11-01 00:00:00

abstract：:The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...

journal_title：Clinical genetics

authors： Baquero-Montoya C,Gil-Rodríguez MC,Teresa-Rodrigo ME,Hernández-Marcos M,Bueno-Lozano G,Bueno-Martínez I,Remeseiro S,Fernández-Hernández R,Bassecourt-Serra M,Rodríguez de Alba M,Queralt E,Losada A,Puisac B,Ramos FJ,Pié J

更新日期：2014-05-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 00:00:00

abstract：:The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated. Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study inve...

journal_title：Clinical genetics

authors： Ashida S,Hadley DW,Vaughn BK,Kuhn NR,Jenkins JF,Koehly LM

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#6130...

journal_title：Clinical genetics

authors： Nambot S,Gavrilov D,Thevenon J,Bruel AL,Bainbridge M,Rio M,Goizet C,Rötig A,Jaeken J,Niu N,Xia F,Vital A,Houcinat N,Mochel F,Kuentz P,Lehalle D,Duffourd Y,Rivière JB,Thauvin-Robinet C,Beaudet AL,Faivre L

更新日期：2017-08-01 00:00:00

abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...

journal_title：Clinical genetics

authors： Zampetti A,Fania L,Antuzzi D,Giurdanella F,Gnarra M,Bertola F,Lualdi S,Filocamo M,Morrone A,Feliciani C

更新日期：2013-09-01 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：:A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the sa...

journal_title：Clinical genetics

authors： da-Silva EO,Batista JE,Medeiros MA,Fonteles SM

更新日期：1993-07-01 00:00:00

abstract：:A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations,...

journal_title：Clinical genetics

authors： Uehara S,Obara Y,Obara T,Funato T,Yaegashi N,Fukaya T,Yajima A

更新日期：1996-02-01 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：:Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain). ...

journal_title：Clinical genetics

authors： Amin S,Forrester N,Norman A,Lux A,Vijayakumar K

更新日期：2017-11-01 00:00:00

abstract：:Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X-ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel ...

journal_title：Clinical genetics

authors： Boman H,Nilsson D

更新日期：1980-12-01 00:00:00

abstract：:A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal domina...

journal_title：Clinical genetics

authors： Geven WB,Monnens LA,Willems JL,Buijs W,Hamel CJ

更新日期：1987-12-01 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：:Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole ...

journal_title：Clinical genetics

authors： Al-Thihli K,Afting C,Al-Hashmi N,Mohammed M,Sliwinski S,Al Shibli N,Al-Said K,Al-Kasbi G,Al-Kharusi K,Merle U,Füllekrug J,Al-Maawali A

更新日期：2020-11-15 00:00:00

abstract：:G-banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46,XX,t(2;10), 46,XX,t(6;11), 46,XY,t(6;10), 45,XY,t(13;14), 45,XY,t(13;14), 45,XY,t(14;21). Another woman ...

journal_title：Clinical genetics

authors： Lyberatou-Moraitou E,Grigori-Kostaraki P,Retzepopoulou Z,Kosmaidou-Aravidou Z

更新日期：1983-04-01 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：: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：: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：:High lipoprotein(a) [Lp(a)] plasma concentrations, which are genetically determined by apo(a) size polymorphism, are directly associated with an increased risk for atherosclerosis. Patients with end-stage renal disease (ESRD), who show an enormous prevalence of cardiovascular disease, have elevated plasma concentratio...

journal_title：Clinical genetics

authors： Kronenberg F,Trenkwalder E,Sturm W,Kathrein H,König P,Neyer U,Gröchenig E,Utermann G,Dieplinger H

更新日期：1997-11-01 00:00:00

abstract：:This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...

journal_title：Clinical genetics

authors： Nivall S,Holmquist D,Gustavsson T,Wahlström J

更新日期：1995-11-01 00:00:00

abstract：:The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan....

journal_title：Clinical genetics

authors： Santos RL,Wajid M,Pham TL,Hussan J,Ali G,Ahmad W,Leal SM

更新日期：2005-01-01 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：:Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...

journal_title：Clinical genetics

authors： Tommerup N,Warburg M,Gieselmann V,Hansen BR,Koch J,Petersen GB

更新日期：1992-10-01 00:00:00