Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

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：: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：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：:The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients w...

journal_title：Clinical genetics

authors： Masurel-Paulet A,Andrieux J,Callier P,Cuisset JM,Le Caignec C,Holder M,Thauvin-Robinet C,Doray B,Flori E,Alex-Cordier MP,Beri M,Boute O,Delobel B,Dieux A,Vallee L,Jaillard S,Odent S,Isidor B,Beneteau C,Vigneron J,

更新日期：2010-08-01 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：:Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...

journal_title：Clinical genetics

authors： Kaur K,Reddy AB,Mukhopadhyay A,Mandal AK,Hasnain SE,Ray K,Thomas R,Balasubramanian D,Chakrabarti S

更新日期：2005-04-01 00:00:00

abstract：:The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: ...

journal_title：Clinical genetics

authors： Elejalde BR,Peck G,de Elejalde MM

更新日期：1986-03-01 00:00:00

abstract：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...

journal_title：Clinical genetics

authors： Howard-Peebles PN,Stoddard GR

更新日期：1980-02-01 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：:RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing lo...

journal_title：Clinical genetics

authors： Somashekar PH,Kaur P,Stephen J,Guleria VS,Kadavigere R,Girisha KM,Bielas S,Upadhyai P,Shukla A

更新日期：2021-01-19 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

journal_title：Clinical genetics

authors： Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

更新日期：2010-03-01 00:00:00

abstract：:Non-syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes i...

journal_title：Clinical genetics

authors： Petersen MB

更新日期：2002-07-01 00:00:00

abstract：:Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected...

journal_title：Clinical genetics

authors： Arboleda VA,Lee H,Sánchez FJ,Délot EC,Sandberg DE,Grody WW,Nelson SF,Vilain E

更新日期：2013-01-01 00:00:00

abstract：:Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...

journal_title：Clinical genetics

authors： Tuckerman E,Webb T

更新日期：1989-07-01 00:00:00

abstract：:Debate continues as to why executive function (EF) continues to show impairments in children with early and continuously treated phenylketonuria (ECT-PKU). Using a mixed model, we measured EF in 10 adolescent children with ECT-PKU and 6 sibling controls, and examined associations between EF and (1) phenylalanine (phe)...

journal_title：Clinical genetics

authors： Sharman R,Sullivan K,Young R,McGill J

更新日期：2009-02-01 00:00:00

abstract：:Autosomal dominant spinocerebellar ataxias (SCA) constitute a heterogeneous group of inherited disorders. The transglutaminase 6 (TGM6) gene was recently suggested as a SCA causative gene in Chinese SCA families. In this study, two affected members of a three-generation Chinese family with SCA characterized by progres...

journal_title：Clinical genetics

authors： Li M,Pang SY,Song Y,Kung MH,Ho SL,Sham PC

更新日期：2013-03-01 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：:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...

journal_title：Clinical genetics

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...

journal_title：Clinical genetics

authors： Shokeir MH,Kobrinsky NL

更新日期：1976-02-01 00:00:00

abstract：:In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...

journal_title：Clinical genetics

authors： López-Pajares I,Martin-Ancel A,Cabello P,Delicado A,Garcia-Alix A,San Roman C

更新日期：1993-02-01 00:00:00

abstract：:This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease. The philatelic illustration depicts Woody Guthrie playing his guitar in the years before advancement of the disease. ...

journal_title：Clinical genetics

authors： Innes AM,Chudley AE

更新日期：2002-04-01 00:00:00

abstract：:SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals...

journal_title：Clinical genetics

authors： Thomason A,Pankey E,Nutt B,Caffrey AR,Zarate YA

更新日期：2019-12-01 00:00:00

abstract：:Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy-requiring processes such as oocyte maturation, early embryonic or fetal development, would be adversely impacted in case of mitochondrial deficiency. Human mitochondrial DNA (mtDNA) mutations constitute a spontaneous model ...

journal_title：Clinical genetics

authors： Steffann J,Monnot S,Bonnefont JP

更新日期：2015-11-01 00:00:00

abstract：:Reassessment of the cytogenetics of a patient previously karyotyped as del(16)(q22) demonstrates the presence of a balanced translocation, t(4;16)(q35;q22.1). This patient should not be included in any future comparison involving the clinical features of patients with deletions of the long arm of chromosome 16. ...

journal_title：Clinical genetics

authors： Callen DF,Baker EG,Lane SA

更新日期：1990-12-01 00:00:00

abstract：:We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...

journal_title：Clinical genetics

authors： Celep F,Karagüzel A,Aynaci FM,Erduran E

更新日期：1996-10-01 00:00:00

abstract：:In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...

journal_title：Clinical genetics

authors： Magnus P,Magnus EM,Berg K

更新日期：1991-04-01 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：:Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is ...

journal_title：Clinical genetics

authors： Halbert Ch,Kessler L,Collier A,Paul Wileyto E,Brewster K,Weathers B

更新日期：2005-09-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed geneti...

journal_title：Clinical genetics

authors： Riggs ER,Wain KE,Riethmaier D,Smith-Packard B,Faucett WA,Hoppman N,Thorland EC,Patel VC,Miller DT

更新日期：2014-02-01 00:00:00

abstract：:Sixty-six percent of the at-risk persons and 74% of the partners in a large survey in Belgium have the intention of making use of predictive testing for Huntington's disease. One third of them, however, have expressed the intention of postponing the final decision for various reasons. The intention to be tested is not...

journal_title：Clinical genetics

authors： Evers-Kiebooms G,Swerts A,Cassiman JJ,Van den Berghe H

更新日期：1989-01-01 00:00:00