From single biobanks to international networks: developing e-governance.

abstract：:A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...

journal_title：Human genetics

authors： Weitkamp LR,Guttormsen SA,Schultz JS

更新日期：1988-05-01 00:00:00

abstract：:We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14...

journal_title：Human genetics

authors： Shoichet SA,Kunde SA,Viertel P,Schell-Apacik C,von Voss H,Tommerup N,Ropers HH,Kalscheuer VM

更新日期：2005-10-01 00:00:00

abstract：:DyeDeoxy terminator cycle sequencing of allele-specific polymerase chain reaction products has shown that there is a highly polymorphic d(AAAAT) pentanucleotide repeat within the first intron of the human p53 gene. This provides a genetic marker for tumor suppressor p53 gene alterations. ...

journal_title：Human genetics

authors： Hahn M,Fislage R,Pingoud A

更新日期：1995-04-01 00:00:00

abstract：:A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...

journal_title：Human genetics

authors： Baranova H,Perriot J,Albuisson E,Ivaschenko T,Baranov VS,Hemery B,Mouraire P,Riol N,Malet P

更新日期：1997-06-01 00:00:00

abstract：:Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...

journal_title：Human genetics

authors： Su LK,Kohlmann W,Ward PA,Lynch PM

更新日期：2002-07-01 00:00:00

abstract：:The association of nephropathy, Wilms' tumour and genital abnormalities is known as Drash syndrome. Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p13. We have carried out ...

journal_title：Human genetics

authors： Jadresic L,Wadey RB,Buckle B,Barratt TM,Mitchell CD,Cowell JK

更新日期：1991-03-01 00:00:00

abstract：:A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...

journal_title：Human genetics

authors： Lenz W,Zygulska M,Horst J

更新日期：1993-05-01 00:00:00

abstract：:Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows th...

journal_title：Human genetics

authors： Schleutker J,Haataja L,Renlund M,Puhakka L,Viitala J,Peltonen L,Aula P

更新日期：1991-11-01 00:00:00

abstract：:Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...

journal_title：Human genetics

authors： Segovia-Silvestre T,Neutzsky-Wulff AV,Sorensen MG,Christiansen C,Bollerslev J,Karsdal MA,Henriksen K

更新日期：2009-01-01 00:00:00

abstract：:A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...

journal_title：Human genetics

authors： Asakawa J,Satoh C,Takahashi N,Fujita M,Kaneko J,Goriki K,Hazama R,Kageoka T

更新日期：1984-01-01 00:00:00

abstract：:Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases wi...

journal_title：Human genetics

authors： Prigogina EL,Fleischman EW,Volkova MA,Frenkel MA

更新日期：1978-03-17 00:00:00

abstract：:The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:The simultaneous analysis of closely linked nucleotide substitutions has recently become possible. However, it is not known whether the construction of molecular haplotypes will be a generally useful strategy for nuclear genes. Furthermore, whereas mobility-shift methods are widely used for the discovery of nucleotide...

journal_title：Human genetics

authors： Peterson RJ,Goldman D,Long JC

更新日期：1999-02-01 00:00:00

abstract：:Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...

journal_title：Human genetics

authors： Jiang Z,Akey JM,Shi J,Xiong M,Wang Y,Shen Y,Xu X,Chen H,Wu H,Xiao J,Lu D,Huang W,Jin L

更新日期：2001-07-01 00:00:00

abstract：:Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44c...

journal_title：Human genetics

authors： von Deimling F,Scharf JM,Liehr T,Rothe M,Kelter AR,Albers P,Dietrich WF,Kunkel LM,Wernert N,Wirth B

更新日期：1999-07-01 00:00:00

abstract：:Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...

journal_title：Human genetics

authors： Chen GB,Liu N,Klimentidis YC,Zhu X,Zhi D,Wang X,Lou XY

更新日期：2014-02-01 00:00:00

abstract：:Abnormalities of chromosome 9p have been reported in human leukemias and lymphomas, and in cell lines lacking the enzyme methylthioadenosine phosphorylase. It has been shown pCN2, the 3' nontranslated region of the N-ras oncogene, crosshybridizes with unknown DNA segments on chromosome 6, 9p, and 22, in addition to th...

journal_title：Human genetics

authors： Nobori T,Hexdall LE,Carson DA

更新日期：1991-08-01 00:00:00

abstract：:Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

journal_title：Human genetics

authors： Fang L,Ahn JK,Wodziak D,Sibley E

更新日期：2012-07-01 00:00:00

abstract：:Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...

journal_title：Human genetics

authors： Delettre C,Griffoin JM,Kaplan J,Dollfus H,Lorenz B,Faivre L,Lenaers G,Belenguer P,Hamel CP

更新日期：2001-12-01 00:00:00

abstract：:The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...

journal_title：Human genetics

authors： Caporossi D,Vernole P,Nicoletti B,Tedeschi B

更新日期：1995-09-01 00:00:00

abstract：:While it is widely appreciated that prostate cancers vary substantially in their propensity to progress to a life-threatening stage, the molecular events responsible for this progression have not been identified. Understanding these molecular mechanisms could provide important prognostic information relevant to more e...

journal_title：Human genetics

authors： Schaid DJ,McDonnell SK,Zarfas KE,Cunningham JM,Hebbring S,Thibodeau SN,Eeles RA,Easton DF,Foulkes WD,Simard J,Giles GG,Hopper JL,Mahle L,Moller P,Badzioch M,Bishop DT,Evans C,Edwards S,Meitz J,Bullock S,Hope Q,G

更新日期：2006-11-01 00:00:00

abstract：:Three families are reported showing transmission of a previously described variant, which is not associated with any clinical abnormality. The variant involves additional material at the band 9p12, which shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-bandin...

journal_title：Human genetics

authors： Webb GC,Krumins EJ,Eichenbaum SZ,Voullaire LE,Earle E,Choó KH

更新日期：1989-04-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 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 high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 00:00:00

abstract：:An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal ba...

journal_title：Human genetics

authors： Laurent C,Biemont MC,Cognat M,Dutrillaux B

更新日期：1977-11-02 00:00:00

abstract：:Among 639 spontaneous abortions between the 8th and 14th week of gestation 342 (53.5%) revealed an abnormal karyotype. While the rate of trisomies distinctly increased with advancing maternal age, a decrease in the rate of 45,X conceptuses and polyploidies was observed among abortions from older women. The overall rel...

journal_title：Human genetics

authors： Neuber M,Rehder H,Zuther C,Lettau R,Schwinger E

更新日期：1993-07-01 00:00:00

abstract：:The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...

journal_title：Human genetics

authors： Séger J,Tchen P,Feingold N,Grenand F,Bois E

更新日期：1978-09-19 00:00:00

abstract：:Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...

journal_title：Human genetics

authors： Fichera M,Failla P,Saccuzzo L,Miceli M,Salvo E,Castiglia L,Galesi O,Grillo L,Calì F,Greco D,Amato C,Romano C,Elia M

更新日期：2019-02-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 00:00:00