Effect of folic acid treatment in the fragile X syndrome.

abstract：:Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...

journal_title：Clinical genetics

authors： Sandgren O,Drugge U,Holmgren G,Sousa A

更新日期：1991-12-01 00:00:00

abstract：:Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, are generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 +/- .039. There ...

journal_title：Clinical genetics

authors： Morton NE,Jacobs PA,Frackiewicz A,Law P,Hilditch CJ

更新日期：1975-09-01 00:00:00

abstract：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 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：:Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The p...

journal_title：Clinical genetics

authors： Sabater-Molina M,Pérez-Sánchez I,Hernández Del Rincón JP,Gimeno JR

更新日期：2018-01-01 00:00:00

abstract：:Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three....

journal_title：Clinical genetics

authors： Gustavson KH,Flodérus Y,Jagell S,Wetterberg L,Ross SB

更新日期：1982-07-01 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：:An aneuploid karyotype with an extra submetacentric C-group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R-banding. The parents elected to terminate the pregnancy. Successful cultu...

journal_title：Clinical genetics

authors： Swisshelm K,Rodriguez ML,Luthy D,Salk D,Norwood T

更新日期：1981-10-01 00:00:00

abstract：:Finding the genetic determinants of intermediate quantitative traits, such as serum creatinine and urea, might aid in finding the determinants of disease phenotypes, such as renal failure, that are, in part, defined according to threshold values imposed upon such traits. We evaluated the association between common var...

journal_title：Clinical genetics

authors： Hegele RA,Harris SB,Hanley AJ,Zinman B

更新日期：1999-06-01 00:00:00

abstract：:A family with three children with Waardenburg syndrome born to normal, unrelated parents is reported. This appears to be the first report suggesting germ-line mosaicism in Waardenburg syndrome. ...

journal_title：Clinical genetics

authors： Kapur S,Karam S

更新日期：1991-03-01 00:00:00

abstract：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...

journal_title：Clinical genetics

authors： Kim H,Dumont DJ

更新日期：2003-10-01 00:00:00

abstract：:The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with AC...

journal_title：Clinical genetics

authors： Niemann-Seyde SC,Eber SW,Zoll B

更新日期：1991-10-01 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 concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often...

journal_title：Clinical genetics

authors： Dahl AA

更新日期：1994-07-01 00:00:00

abstract：:The lipoprotein Lp(a) is associated with increased risk of atherosclerosis and myocardial infarction in humans. Lp(a) is mostly confined to primate species, due to the limited phylogenetic distribution of its distinguishing protein component, apolipoprotein(a) which is a close homolog of plasminogen. The known propert...

journal_title：Clinical genetics

authors： Lawn RM

更新日期：1996-04-01 00:00:00

abstract：:A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ a...

journal_title：Clinical genetics

authors： Ardinger HH,Patil SR,Rhead WJ

更新日期：1987-06-01 00:00:00

abstract：:CuZnSOD is produced in overdose in cells with trisomy 21. This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, ca...

journal_title：Clinical genetics

authors： Crosti N,Bajer J,Gentile M,Resta G,Serra A

更新日期：1989-08-01 00:00:00

abstract：:Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial de...

journal_title：Clinical genetics

authors： Hilhorst-Hofstee Y,Scholte AJ,Rijlaarsdam ME,van Haeringen A,Kroft LJ,Reijnierse M,Ruivenkamp CA,Versteegh MI,Pals G,Breuning MH

更新日期：2013-04-01 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：:We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood wit...

journal_title：Clinical genetics

authors： Geremek M,Dudarewicz L,Obersztyn E,Paczkowska M,Smyk M,Sobecka K,Nowakowska B

更新日期：2020-04-01 00:00:00

abstract：:Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular ag...

journal_title：Clinical genetics

authors： Almaguer-Mederos LE,Falcón NS,Almira YR,Zaldivar YG,Almarales DC,Góngora EM,Herrera MP,Batallán KE,Armiñán RR,Manresa MV,Cruz GS,Laffita-Mesa J,Cyuz TM,Chang V,Auburger G,Gispert S,Pérez LV

更新日期：2010-08-01 00:00:00

abstract：:Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one...

journal_title：Clinical genetics

authors： Harris EL,Wappner RS,Palmer CG,Hall B,Dinno N,Seashore MR,Breg WR

更新日期：1977-10-01 00:00:00

abstract：:436 index patients with major congenital urinary tract malformations, 385 with upper and 51 with lower urinary tract anomalies, were studied. A significant male sex predominance was noted in each group. No apparent correlation was found between parental age, birth order, birth weight and incidence of these malformatio...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Benmaiz H,Briard ML

更新日期：1975-07-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 10...

journal_title：Clinical genetics

authors： McCann EP,Williams KL,Fifita JA,Tarr IS,O'Connor J,Rowe DB,Nicholson GA,Blair IP

更新日期：2017-09-01 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：:A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...

journal_title：Clinical genetics

authors： Verschraegen-Spae MR,Depypere H,Speleman F,Dhondt M,De Paepe A

更新日期：1992-04-01 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：: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：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

journal_title：Clinical genetics

authors： Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

更新日期：2002-08-01 00:00:00

abstract：:Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...

journal_title：Clinical genetics

authors： Šafka Brožková D,Haberlová J,Mazanec R,Laštůvková J,Seeman P

更新日期：2016-08-01 00:00:00