Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.

abstract：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

journal_title：Human genetics

authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

更新日期：2013-11-01 00:00:00

abstract：:Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...

journal_title：Human genetics

authors： Nietzel A,Rocchi M,Starke H,Heller A,Fiedler W,Wlodarska I,Loncarevic IF,Beensen V,Claussen U,Liehr T

更新日期：2001-03-01 00:00:00

abstract：:Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrations...

journal_title：Human genetics

authors： Bradová V,Smíd F,Ulrich-Bott B,Roggendorf W,Paton BC,Harzer K

更新日期：1993-09-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...

journal_title：Human genetics

authors： Happle R

更新日期：1985-01-01 00:00:00

abstract：:The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...

journal_title：Human genetics

authors： Gomes V,Pala M,Salas A,Álvarez-Iglesias V,Amorim A,Gómez-Carballa A,Carracedo Á,Clarke DJ,Hill C,Mormina M,Shaw MA,Dunne DW,Pereira R,Pereira V,Prata MJ,Sánchez-Diz P,Rito T,Soares P,Gusmão L,Richards MB

更新日期：2015-09-01 00:00:00

abstract：:Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4 kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the ele...

journal_title：Human genetics

authors： Coetzee MJ,Bartleet SC,Ramsay M,Jenkins T

更新日期：1992-04-01 00:00:00

abstract：:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijania...

journal_title：Human genetics

authors： Nasidze I,Sarkisian T,Kerimov A,Stoneking M

更新日期：2003-03-01 00:00:00

abstract：:Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with ...

journal_title：Human genetics

authors： Okur V,Cho MT,Henderson L,Retterer K,Schneider M,Sattler S,Niyazov D,Azage M,Smith S,Picker J,Lincoln S,Tarnopolsky M,Brady L,Bjornsson HT,Applegate C,Dameron A,Willaert R,Baskin B,Juusola J,Chung WK

更新日期：2016-07-01 00:00:00

abstract：:A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres ...

journal_title：Human genetics

authors： Houshmand M,Larsson NG,Oldfors A,Tulinius M,Holme E

更新日期：1996-03-01 00:00:00

abstract：:DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...

journal_title：Human genetics

authors： Konecki DS,Schlotter M,Trefz FK,Lichter-Konecki U

更新日期：1991-08-01 00:00:00

abstract：:An easy-to-use, simulation-based power calculator (ASP) for linkage analysis using sib-pair designs (concordant or discordant) has been developed and made publicly available via the Internet. The program employs a diallelic model for the trait locus, at which parental/offspring genotypes are simulated, assuming Hardy-...

journal_title：Human genetics

authors： Krawczak M

更新日期：2001-12-01 00:00:00

abstract：:Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has util...

journal_title：Human genetics

authors： Howell RT,McDermott A

更新日期：1982-01-01 00:00:00

abstract：:Using the polymerase chain reaction, a sequence comprising 400bp of the human ZFY gene was amplified specifically in the male. The method allows detection of the presence of the ZFY gene in the order of 1:10(4) cells. ...

journal_title：Human genetics

authors： Ebensperger C,Studer R,Epplen JT

更新日期：1989-06-01 00:00:00

abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

journal_title：Human genetics

authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

更新日期：1996-03-01 00:00:00

abstract：:PAX2 is a member of the PAX multigene family encoding transcription factors active in specific tissues during embryogenesis. Several PAX/Pax genes (PAX and Pax describe homologous genes in human and mice, respectively) have been shown to possess critical morphogenetic functions as identified by the analysis of mice ta...

journal_title：Human genetics

authors： Tavassoli K,Rüger W,Horst J

更新日期：1997-12-01 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：:Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...

journal_title：Human genetics

authors： Evans SC,Mims B,McMasters KM,Foster CJ,deAndrade M,Amos CI,Strong LC,Lozano G

更新日期：1998-06-01 00:00:00

abstract：:A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...

journal_title：Human genetics

authors： Presneau N,Laplace-Marieze V,Sylvain V,Lortholary A,Hardouin A,Bernard-Gallon D,Bignon YJ

更新日期：1998-09-01 00:00:00

abstract：:Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are de...

journal_title：Human genetics

authors： Baird PN,Craig JE,Richardson AJ,Ring MA,Sim P,Stanwix S,Foote SJ,Mackey DA

更新日期：2003-02-01 00:00:00

abstract：:A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular deg...

journal_title：Human genetics

authors： Zhang Q,Zulfiqar F,Xiao X,Riazuddin SA,Ayyagari R,Sabar F,Caruso R,Sieving PA,Riazuddin S,Hejtmancik JF

更新日期：2005-12-01 00:00:00

abstract：:This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (pat...

journal_title：Human genetics

authors： Verrips A,Steenbergen-Spanjers GC,Luyten JA,van den Heuvel LP,Keyser A,Gabreëls FJ,Wevers RA

更新日期：1996-12-01 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：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 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：:A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...

journal_title：Human genetics

authors： Wijsman EM

更新日期：1984-01-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). As female somatic cells are mosaic for expression of mutant MECP2, we performed single cell cloning of T lymphocytes from four RTT patients with MECP2 mutations to isolat...

journal_title：Human genetics

authors： Balmer D,Arredondo J,Samaco RC,LaSalle JM

更新日期：2002-06-01 00:00:00

abstract：:A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated (X;1)-(p11;q21) translocation. This breakpoint maps betw...

journal_title：Human genetics

authors： Weterman MA,Wilbrink M,Dijkhuizen T,van den Berg E,Geurts van Kessel A

更新日期：1996-07-01 00:00:00

abstract：:ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...

journal_title：Human genetics

authors： Alazami AM,Maddirevula S,Seidahmed MZ,Albhlal LA,Alkuraya FS

更新日期：2019-01-01 00:00:00