Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.

abstract：:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...

journal_title：Human genetics

authors： Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Y

更新日期：2000-09-01 00:00:00

abstract：:Human tumor cells, after x-irradiation during the G2 phase of the cell cycle, show an abnormally high frequency of persistent chromatid breaks and gaps resulting from deficient DNA repair. Addition of a single human chromosome 11 from normal fibroblasts by micro-cell fusion to cell lines from six different tumors resu...

journal_title：Human genetics

authors： Parshad R,Price FM,Oshimura M,Barrett JC,Satoh H,Weissman BE,Stanbridge EJ,Sanford KK

更新日期：1992-03-01 00:00:00

abstract：:The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and ...

journal_title：Human genetics

authors： Kokkonen H,Kähkönen M,Leisti J

更新日期：1995-05-01 00:00:00

abstract：:Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...

journal_title：Human genetics

authors： Scherer SJ,Seib T,Seitz G,Dooley S,Welter C

更新日期：1996-01-01 00:00:00

abstract：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

journal_title：Human genetics

authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

更新日期：2016-11-01 00:00:00

abstract：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 00:00:00

abstract：:In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...

journal_title：Human genetics

authors： el-Hazmi MA,Jabbar FA,Al-Swailem AR,Warsy AS

更新日期：1986-11-01 00:00:00

abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

journal_title：Human genetics

authors： Chockkalingam K,Board PG,Nurse GT

更新日期：1982-01-01 00:00:00

abstract：:It is shown by discontinuous sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis of human red cell membranes, followed by periodic acid Schiff (PAS) staining and densitometry, that the band PAS-3 (monomeric Ss glycoprotein) exhibits a polymorphism with respect to its staining intensity. In membranes of the ...

journal_title：Human genetics

authors： Dahr W,Uhlenbruck G,Schmalisch R,Janssen E

更新日期：1976-05-19 00:00:00

abstract：:This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...

journal_title：Human genetics

authors： Branković S,Laća Z,Dramusić V,Ivanović M,Morić-Petrović S

更新日期：1979-04-17 00:00:00

abstract：:A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...

journal_title：Human genetics

authors： Howell WM,Black DA

更新日期：1978-07-12 00:00:00

abstract：:We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...

journal_title：Human genetics

authors： Zschocke J,Hoffmann GF

更新日期：1999-05-01 00:00:00

abstract：:We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...

journal_title：Human genetics

authors： Barni N,Talmud PJ,Carlsson P,Azoulay M,Darnfors C,Harding D,Weil D,Grzeschik KH,Bjursell G,Junien C

更新日期：1986-08-01 00:00:00

abstract：:Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions an...

journal_title：Human genetics

authors： Molina O,Anton E,Vidal F,Blanco J

更新日期：2011-01-01 00:00:00

abstract：:This review is based on a thorough description of the structure and sequence organization of tandemly organized repetitive DNA sequence families in the human genome; it is aimed at revealing the locus-specific sequence organization of tandemly repetitive sequence structures as a highly conserved DNA sequence code. The...

journal_title：Human genetics

authors： Vogt P

更新日期：1990-03-01 00:00:00

abstract：:Although several studies have demonstrated familial aggregation of nonsyndromic cleft palate (CP), the mode of inheritance still remains uncertain. We report the results of complex segregation analysis performed in families of 357 consecutive newborns affected with nonsyndromic CP (i.e., CP not a component feature of ...

journal_title：Human genetics

authors： Clementi M,Tenconi R,Forabosco P,Calzolari E,Milan M

更新日期：1997-08-01 00:00:00

abstract：:Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to rep...

journal_title：Human genetics

authors： Sehrawat B,Sridharan M,Ghosh S,Robson P,Cass CE,Mackey JR,Greiner R,Damaraju S

更新日期：2011-10-01 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：:Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype...

journal_title：Human genetics

authors： Lefranc G,Lefranc MP,Seger J,Salier JP,Chakhachiro L,Loiselet J

更新日期：1981-01-01 00:00:00

abstract：:Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-ampl...

journal_title：Human genetics

authors： Daimon M,Gojyou E,Sugawara M,Yamatani K,Tominaga M,Sasaki H

更新日期：1997-02-01 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 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：: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：:Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Aus...

journal_title：Human genetics

authors： Milne R,Morley KI,Howard H,Niemiec E,Nicol D,Critchley C,Prainsack B,Vears D,Smith J,Steed C,Bevan P,Atutornu J,Farley L,Goodhand P,Thorogood A,Kleiderman E,Middleton A,Participant Values Work Stream of the Global Allia

更新日期：2019-12-01 00:00:00

abstract：:A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...

journal_title：Human genetics

authors： Dumanski JP,Geurts van Kessel AH,Ruttledge M,Wladis A,Sugawa N,Collins VP,Nordenskjöld M

更新日期：1990-02-01 00:00:00

abstract：:We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prot...

journal_title：Human genetics

authors： Alitalo T,Tiihonen J,Hakola P,de la Chapelle A

更新日期：1988-05-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...

journal_title：Human genetics

authors： Ogino S,Wilson RB

更新日期：2002-12-01 00:00:00

abstract：:Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal mus...

journal_title：Human genetics

authors： Holder E,Maeda M,Bies RD

更新日期：1996-02-01 00:00:00

abstract：:Neural tube defects (NTD) result from complex mechanisms between genes, nutrition and environment. The identification of genetic predictors by genome exome sequencing and their influence on genome methylation need further consideration. Gene variants related to 1-CM metabolism (1-CM) could influence the methylation of...

journal_title：Human genetics

authors： Renard E,Chéry C,Oussalah A,Josse T,Perrin P,Tramoy D,Voirin J,Klein O,Leheup B,Feillet F,Guéant-Rodriguez RM,Guéant JL

更新日期：2019-07-01 00:00:00