Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

abstract：:Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...

journal_title：Human genetics

authors： Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

更新日期：1992-05-01 00:00:00

abstract：:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...

journal_title：Human genetics

authors： Kim H,Kim SY,Joly Y

更新日期：2018-08-01 00:00:00

abstract：:The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...

journal_title：Human genetics

authors： Colapietro P,Gervasini C,Natacci F,Rossi L,Riva P,Larizza L

更新日期：2003-11-01 00:00:00

abstract：:A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...

journal_title：Human genetics

authors： Kikuchi S,Yamanouchi Y,Li L,Kobayashi K,Ijima H,Miyazaki R,Tsuchiya S,Hamaguchi H

更新日期：1992-09-01 00:00:00

abstract：:As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...

journal_title：Human genetics

authors： Schaid DJ,Sinnwell JP,McDonnell SK,Thibodeau SN

更新日期：2013-11-01 00:00:00

abstract：:We have recently obtained evidence that the locus corresponding to three groups of partial tracheobronchial cDNAs (A = Jer47, B = Jer57, C = Jer58) which mapped to chromosome 11p15 and was given the symbol MUC5 corresponds to two distinct genes which we have provisionally called MUC5B and MUC5AC. Here we describe the ...

journal_title：Human genetics

authors： Pigny P,Pratt WS,Laine A,Leclercq A,Swallow DM,Nguyen VC,Aubert JP,Porchet N

更新日期：1995-09-01 00:00:00

abstract：:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...

journal_title：Human genetics

authors： Smith A,Noel M

更新日期：1980-01-01 00:00:00

abstract：:During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...

journal_title：Human genetics

authors： Lelli N,Garuti R,Pedrazzi P,Ghisellini M,Simone ML,Tiozzo R,Cattin L,Valenti M,Rolleri M,Bertolini S

更新日期：1994-05-01 00:00:00

abstract：:Three human chromosome 9-specific cosmid recombinants containing (CA)n microsatellites are described. Three microsatellite loci, D9S970, D9S971, and D9S972, were observed to have heterozygosities of 0.78, 0.84, and 0.82, respectively. Subchromosomal localizations were determined by R-banding and fluorescence in situ h...

journal_title：Human genetics

authors： Kimmel BS,Miniou P,Robbins SL,Malkowicz SB,Linnenbach AJ

更新日期：1995-08-01 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：:Association studies for complex diseases based on pedigree haplotype or genotype data have received increasing attention in the last few years. The similarity tests are appealing for these studies because they take into account of the DNA structure, but they have blind areas on which significant association can not be...

journal_title：Human genetics

authors： Yuan A,Yue Q,Apprey V,Bonney G

更新日期：2007-08-01 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：:The spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (SMN1) gene cause SMA, a common lethal childhood neuropathy. We have used a number of approaches to probe the evolutionary history of these genes and sh...

journal_title：Human genetics

authors： Rochette CF,Gilbert N,Simard LR

更新日期：2001-03-01 00:00:00

abstract：:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...

journal_title：Human genetics

authors： Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MF

更新日期：1990-09-01 00:00:00

abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

journal_title：Human genetics

authors： Gottweis H,Chen H,Starkbaum J

更新日期：2011-09-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...

journal_title：Human genetics

authors： Wang MH,Fiocchi C,Zhu X,Ripke S,Kamboh MI,Rebert N,Duerr RH,Achkar JP

更新日期：2014-05-01 00:00:00

abstract：:High-density lipoprotein cholesterol (HDL-C) is a known inverse predictor of coronary heart disease (CHD) and is thus a potential therapeutic target. Cholesteryl ester transfer protein (CETP) is a key protein in HDL-C metabolism such that elevated CETP activity is associated with lower HDL-C. Currently available HDL-C...

journal_title：Human genetics

authors： McCaskie PA,Beilby JP,Chapman CM,Hung J,McQuillan BM,Thompson PL,Palmer LJ

更新日期：2007-05-01 00:00:00

abstract：:Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...

journal_title：Human genetics

authors： Rannan-Eliya SV,Taylor IB,De Heer IM,Van Den Ouweland AM,Wall SA,Wilkie AO

更新日期：2004-08-01 00:00:00

abstract：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 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：: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

abstract：:A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...

journal_title：Human genetics

authors： Musumeci S,Schilirò G,Pizzarelli G,Tentori L,Marinucci M,Fontanarosa PP,Russo G

更新日期：1979-11-01 00:00:00

abstract：:To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the ...

journal_title：Human genetics

authors： Keyser C,Bouakaze C,Crubézy E,Nikolaev VG,Montagnon D,Reis T,Ludes B

更新日期：2009-09-01 00:00:00

abstract：:Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hyb...

journal_title：Human genetics

authors： Arnemann J,Schnittger S,Hinkel GK,Tolkendorf E,Schmidtke J,Hansmann I

更新日期：1991-06-01 00:00:00

abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

journal_title：Human genetics

authors： Kraus C,Ballhausen WG

更新日期：1992-03-01 00:00:00

abstract：:The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in ...

journal_title：Human genetics

authors： Dalla Venezia N,Wilmotte R,Morlé L,Forissier A,Parquet N,Garbarz M,Rousset T,Dhermy D,Alloisio N,Delaunay J

更新日期：1993-02-01 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 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