No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

abstract：:rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...

journal_title：Human genetics

authors： de Capoa A,Marlekaj P,Baldini A,Rocchi M,Archidiacono N

更新日期：1985-01-01 00:00:00

abstract：:Population and family studies have confirmed the existence of a plasma alpha-L-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estimated at 11%. The low activity individuals or variants can also be distinguished by the fact that their ...

journal_title：Human genetics

authors： Willems PJ,Romeo E,Den Tandt WR,Van Elsen AF,Leroy JG

更新日期：1981-01-01 00:00:00

abstract：:Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

journal_title：Human genetics

authors： Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

更新日期：1976-09-10 00:00:00

abstract：:The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53%...

journal_title：Human genetics

authors： Schneider H,Salzano FM

更新日期：1979-01-01 00:00:00

abstract：:We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...

journal_title：Human genetics

authors： Watanabe G,Umetsu K,Yuasa I,Suzuki T

更新日期：1997-01-01 00:00:00

abstract：:A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...

journal_title：Human genetics

authors： Magenis RE,Wyandt HE,Overton KM,Macfarlane J

更新日期：1976-07-27 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 00:00:00

abstract：:Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures...

journal_title：Human genetics

authors： Dallapiccola B,Porfirio B,Mokini V,Alimena G,Isacchi G,Gandini E

更新日期：1985-01-01 00:00:00

abstract：:Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference was found in alleli...

journal_title：Human genetics

authors： Haataja R,Väisänen ML,Li M,Ryynänen M,Leisti J

更新日期：1994-11-01 00:00:00

abstract：:The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. The HPS-1 gene has been mapped to chromosome 10q23.1-23.3 and encodes a 79-kDa p...

journal_title：Human genetics

authors： Huizing M,Anikster Y,Gahl WA

更新日期：2000-03-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns ...

journal_title：Human genetics

authors： Graffelman J,Balding DJ,Gonzalez-Neira A,Bertranpetit J

更新日期：2007-11-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...

journal_title：Human genetics

authors： Zuvich RL,McCauley JL,Oksenberg JR,Sawcer SJ,De Jager PL,International Multiple Sclerosis Genetics Consortium.,Aubin C,Cross AH,Piccio L,Aggarwal NT,Evans D,Hafler DA,Compston A,Hauser SL,Pericak-Vance MA,Haines JL

更新日期：2010-03-01 00:00:00

abstract：:Lod scores are reported for 86 biochemical to cytogenetic marker comparisons in Black kindred. Analysis with unconfirmed locus assignments resulted in 12 exclusions of close linkage. ...

journal_title：Human genetics

authors： Fogle TA,Namboodiri KK,Elston RC,McKenzie WH,Hames CG

更新日期：1980-01-01 00:00:00

abstract：:In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...

journal_title：Human genetics

authors： Polani PE

更新日期：1982-01-01 00:00:00

abstract：:Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...

journal_title：Human genetics

authors： Shatskaya TL,Krasnopolskaya KD,Idelson LJ

更新日期：1976-07-27 00:00:00

abstract：:In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families. The distribution of RFLP haplotypes differs from that of north...

journal_title：Human genetics

authors： Desviat LR,Pérez B,Ugarte M

更新日期：1993-10-01 00:00:00

abstract：:Despite the family aggregation of severe teenage acne, the genetic basis of this common skin condition remains unclear. We conducted a genome-wide association study (GWAS) on severe teenage acne in 928 European Americans. The SNP rs4133274 on chromosome 8q24 (72 kb upstream of MYC) revealed the most significant associ...

journal_title：Human genetics

authors： Zhang M,Qureshi AA,Hunter DJ,Han J

更新日期：2014-03-01 00:00:00

abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

journal_title：Human genetics

authors： Lázaro C,Gaona A,Estivill X

更新日期：1994-03-01 00:00:00

abstract：:Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...

journal_title：Human genetics

authors： Fraccaro M,Zuffardi O,Bühler E,Schinzel A,Simoni G,Witkowski R,Bonifaci E,Caufin D,Cignacco G,Delendi N

更新日期：1983-01-01 00:00:00

abstract：:A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies in...

journal_title：Human genetics

authors： Rivas F,Rivera H,Plascencia ML,Ibarra B,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:Thioridazine (Mellaril), a psychotropic drug belonging to the phenothiazine group of drugs, was evaluated for its in vivo clastogenic effect on human chromosomes in lymphocyte cultures. Lymphocyte cultures were set up with peripheral blood samples of psychiatric patients (diagnosis: schizophrenia, mania, manic depress...

journal_title：Human genetics

authors： Saxena R,Ahuja YR

更新日期：1982-01-01 00:00:00

abstract：:A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined ...

journal_title：Human genetics

authors： Arnold H,Löhr GW,Hasslinger K,Ludwig R

更新日期：1981-01-01 00:00:00

abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

journal_title：Human genetics

authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

更新日期：1998-06-01 00:00:00

abstract：:The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...

journal_title：Human genetics

authors： Sagi-Dain L,Goldberg Y,Peleg A,Sukenik-Halevy R,Sofrin-Drucker E,Appelman Z,Josefsberg BYS,Ben-Shachar S,Vinkler C,Basel-Salmon L,Maya I

更新日期：2019-10-01 00:00:00

abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

journal_title：Human genetics

authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

更新日期：1977-06-10 00:00:00

abstract：:It is commonly acknowledged that estimates of heritability from classical twin studies have many potential shortcomings. Despite this, in the post-GWAS era, these heritability estimates have come to be a continual source of interest and controversy. While the heritability estimates of a quantitative trait are subject ...

journal_title：Human genetics

authors： Benchek PH,Morris NJ

更新日期：2013-12-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...

journal_title：Human genetics

authors： Spranger J,Bierbaum B,Herrmann J

更新日期：1976-08-30 00:00:00

abstract：:There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

journal_title：Human genetics

authors： Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

更新日期：2007-04-01 00:00:00