Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney.

abstract：:Extensive studies have been conducted on the analysis of genome function, especially on the expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect...

journal_title：Human genetics

authors： Deng S,Hardin J,Amos CI,Xiao F

更新日期：2020-08-01 00:00:00

abstract：:Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German fa...

journal_title：Human genetics

authors： Bürger J,Metzke H,Paternotte C,Schilling F,Hazan J,Reis A

更新日期：1996-09-01 00:00:00

abstract：:To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by ...

journal_title：Human genetics

authors： Matsuoka R,Kimura M,Scambler PJ,Morrow BE,Imamura S,Minoshima S,Shimizu N,Yamagishi H,Joh-o K,Watanabe S,Oyama K,Saji T,Ando M,Takao A,Momma K

更新日期：1998-07-01 00:00:00

abstract：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

journal_title：Human genetics

authors： Sofuni T,Tanabe K,Awa AA

更新日期：1980-01-01 00:00:00

abstract：:Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...

journal_title：Human genetics

authors： Ouma C,Davenport GC,Garcia S,Kempaiah P,Chaudhary A,Were T,Anyona SB,Raballah E,Konah SN,Hittner JB,Vulule JM,Ong'echa JM,Perkins DJ

更新日期：2012-02-01 00:00:00

abstract：:Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...

journal_title：Human genetics

authors： Bricarelli FD,Fraccaro M,Lindsten J,Müller U,Baggio P,Carbone LD,Hjerpe A,Lindgren F,Mayerová A,Ringertz H,Ritzén EM,Rovetta DC,Sicchero C,Wolf U

更新日期：1981-01-01 00:00:00

abstract：:The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...

journal_title：Human genetics

authors： Marez D,Legrand M,Sabbagh N,Lo-Guidice JM,Boone P,Broly F

更新日期：1996-05-01 00:00:00

abstract：:Despite the recent discover of genome-editing methods, today we can say these approaches have firmly entered our life. Two approaches-knocking out malfunctioning gene allele or correcting the mutation with precise knock-in-can be used in hereditary monogenic diseases treatment. The latter approach is relatively ineffe...

journal_title：Human genetics

authors： Smirnikhina SA,Anuchina AA,Lavrov AV

更新日期：2019-01-01 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：:Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...

journal_title：Human genetics

authors： Pagenstecher C,Wehner M,Friedl W,Rahner N,Aretz S,Friedrichs N,Sengteller M,Henn W,Buettner R,Propping P,Mangold E

更新日期：2006-03-01 00:00:00

abstract：:Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particularly suitable for this approach. To evaluate the extent of LD betwee...

journal_title：Human genetics

authors： Angius A,Bebbere D,Petretto E,Falchi M,Forabosco P,Maestrale B,Casu G,Persico I,Melis PM,Pirastu M

更新日期：2002-07-01 00:00:00

abstract：:A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...

journal_title：Human genetics

authors： Dziuba P,Dziekanowska D,Hübner H

更新日期：1976-03-12 00:00:00

abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

journal_title：Human genetics

authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

更新日期：2006-02-01 00:00:00

abstract：:Studies on the segregation of the red blood cell determinant Xg in 12 families with X-linked inheritance of agammaglobulinemia (XLA) in 3-4 generations suggested linkage of Xg with XLA. One extensive pedigree of a Dutch family with XLA in eight generations was investigated for Xg and the quantitative polymorphism 12E7...

journal_title：Human genetics

authors： Mensink EJ,Schot JD,Tippett P,Ott J,Schuurman RK

更新日期：1984-01-01 00:00:00

abstract：:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...

journal_title：Human genetics

authors： Zabel B,Hansen S,Hilig U,Gröting-Imhof H

更新日期：1977-04-07 00:00:00

abstract：:We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...

journal_title：Human genetics

authors： Mahmood R,Brierley CH,Faed MJ,Mills JA,Delhanty JD

更新日期：2000-06-01 00:00:00

abstract：:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

journal_title：Human genetics

authors： Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

更新日期：1986-04-01 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：:The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...

journal_title：Human genetics

authors： Hudson LL,Rocca K,Song YW,Pandey JP

更新日期：2002-10-01 00:00:00

abstract：:Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...

journal_title：Human genetics

authors： Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SL

更新日期：1987-05-01 00:00:00

abstract：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

journal_title：Human genetics

authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

更新日期：1987-06-01 00:00:00

abstract：:Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid...

journal_title：Human genetics

authors： Romain DR,Columbano-Green LM,Smythe RH,Parfitt RG,Gebbie OB,Chapman CJ

更新日期：1986-06-01 00:00:00

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：:The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...

journal_title：Human genetics

authors： Vorsanova SG,Yurov YB,Kurbatov MB,Kazantzeva LZ

更新日期：1990-12-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

journal_title：Human genetics

authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

更新日期：2006-11-01 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：:The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc v...

journal_title：Human genetics

authors： Thymann M,Hoste B,Scheffrahn W,Constans J,Cleve H

更新日期：1985-01-01 00:00:00

abstract：:A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving fr...

journal_title：Human genetics

authors： Ramus SJ,Cotton RG

更新日期：1995-12-01 00:00:00

abstract：:The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

journal_title：Human genetics

authors： Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

更新日期：1996-08-01 00:00:00