Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

abstract：:We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy a...

journal_title：Human genetics

authors： Bartsch O,Hinkel GK,Petersen MB,König U,Bugge M,Mikkelsen M,Avramopoulos D,Morris M,Antonarakis SE

更新日期：1997-10-01 00:00:00

abstract：:Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...

journal_title：Human genetics

authors： Doose H,Castiglione E,Waltz S

更新日期：1995-12-01 00:00:00

abstract：:Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease ...

journal_title：Human genetics

authors： Consugar MB,Kubly VJ,Lager DJ,Hommerding CJ,Wong WC,Bakker E,Gattone VH 2nd,Torres VE,Breuning MH,Harris PC

更新日期：2007-06-01 00:00:00

abstract：:Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...

journal_title：Human genetics

authors： Welling DB,Guida M,Goll F,Pearl DK,Glasscock ME,Pappas DG,Linthicum FH,Rogers D,Prior TW

更新日期：1996-08-01 00:00:00

abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

journal_title：Human genetics

authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

更新日期：1989-07-01 00:00:00

abstract：:Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...

journal_title：Human genetics

authors： Mononen N,Ikonen T,Autio V,Rökman A,Matikainen MP,Tammela TL,Kallioniemi OP,Koivisto PA,Schleutker J

更新日期：2002-08-01 00:00:00

abstract：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

journal_title：Human genetics

authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

更新日期：1996-03-01 00:00:00

abstract：:The future holds the possibility to link and network biobanks, existing biorepositories and reference databases for research purposes in ways that have not been possible before. There is the potential to develop 'research portals' that will enable researchers to access these research resources that are located around ...

journal_title：Human genetics

authors： Kaye J

更新日期：2011-09-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing ...

journal_title：Human genetics

authors： Montaño AM,Kaitila I,Sukegawa K,Tomatsu S,Kato Z,Nakamura H,Fukuda S,Orii T,Kondo N

更新日期：2003-07-01 00:00:00

abstract：:The length of 44 silver-stained human autosomal pachytene complements was shown to vary from about 300 micrometer to at least 535 micrometer. The lengths of the individual 22 autosomal chromosomes of eight complements representing this interval was measured and the relative lengths calculated. For most of the chromoso...

journal_title：Human genetics

authors： Jørgensen AL,Bak AL

更新日期：1981-01-01 00:00:00

abstract：:To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying ...

journal_title：Human genetics

authors： Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler B

更新日期：2004-11-01 00:00:00

abstract：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...

journal_title：Human genetics

authors： Williamson SL,Giudici L,Kilstrup-Nielsen C,Gold W,Pelka GJ,Tam PP,Grimm A,Prodi D,Landsberger N,Christodoulou J

更新日期：2012-02-01 00:00:00

abstract：:Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Pankratz VS,Haralambieva IH,Vierkant RA,Jacobson RM,Poland GA

更新日期：2012-09-01 00:00:00

abstract：:cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

journal_title：Human genetics

authors： Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

更新日期：1994-04-01 00:00:00

abstract：:A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...

journal_title：Human genetics

authors： Blake NM

更新日期：1978-07-12 00:00:00

abstract：:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...

journal_title：Human genetics

authors： Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MF

更新日期：1990-09-01 00:00:00

abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence), were identified in ...

journal_title：Human genetics

authors： Liu TT,Hsiao KJ

更新日期：1996-09-01 00:00:00

abstract：:The size and position of the heterochromatic regions of chromosome 9 were examined in a group of women with histories of recurrent miscarriage and a control group of fertile women. Measurements were made on whole chromosomes (variability between chromosomes was taken to reflect differences in heterochromatin), and cor...

journal_title：Human genetics

authors： Ford JH,Callen DF,Jahnke AB,Roberts CG

更新日期：1982-01-01 00:00:00

abstract：:During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...

journal_title：Human genetics

authors： Beck M

更新日期：2007-03-01 00:00:00

abstract：:A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...

journal_title：Human genetics

authors： Nielsen J,Krag-Olsen B

更新日期：1980-01-01 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with...

journal_title：Human genetics

authors： Pook MA,Thakrar R,Pottinger B,Harding B,Porteous D,van Heyningen V,Cowell J,Jones C,Povey S,Davies KE,Thakker RV

更新日期：1996-06-01 00:00:00

abstract：:Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

journal_title：Human genetics

authors： Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

更新日期：2020-01-16 00:00:00

abstract：:The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...

journal_title：Human genetics

authors： Medina-Gómez P,Johnston TH

更新日期：1982-01-01 00:00:00

abstract：:Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

journal_title：Human genetics

authors： M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

更新日期：1992-12-01 00:00:00

abstract：:Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed...

journal_title：Human genetics

authors： Macgregor S,Cornes BK,Martin NG,Visscher PM

更新日期：2006-11-01 00:00:00

abstract：:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently b...

journal_title：Human genetics

authors： Schwartz M,Blichfeldt S,Müller J

更新日期：1997-01-01 00:00:00

abstract：:Hereditary ovalocytosis in Papua New Guinea is restricted to areas of endemic malaria and may confer increased resistance to the disease. The incidence of malaria was investigated in 1616 Melanesiams of known red cell morphology and severity of infection determined in a smaller subsample. Ovalocytics tended to be more...

journal_title：Human genetics

authors： Serjeantson S,Bryson K,Amato D,Babona D

更新日期：1977-06-30 00:00:00