The human Y chromosome: function, evolution and disease.
Forensic science international | 2001-05-15 | PMID 11311832
Quintana-Murci L, Krausz C, McElreavey K
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 1530 of 10600
Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia, schizoaffective disorder and bipolar disorder.
Psychiatry research | 2001-04-15 | PMID 11311923
Ujike H, Yamamoto A, Tanaka Y and 5 more
Genes: KCNN3
Poor performance in smooth pursuit and antisaccadic eye-movement tasks in healthy siblings of patients with schizophrenia.
Psychiatry research | 2001-04-15 | PMID 11311924
Karoumi B, Saoud M, d'Amato T and 7 more
The contrasting influence of depressive and hyperthymic temperaments on psychometrically derived manic subtypes.
Psychiatry research | 2001-04-15 | PMID 11311928
Perugi G, Maremmani I, Toni C and 3 more
Long-term persistence of cellular immunity to Oka vaccine virus induced by pernasal co-administration with Escherichia coli enterotoxin in mice.
Vaccine | 2001-04-30 | PMID 11312008
Kamiya N, Asano Y, Yoshino J and 6 more
Nitric oxide modulates the angiogenic phenotype of middle-T transformed endothelial cells.
The international journal of biochemistry & cell biology | 2001-04-01 | PMID 11312101
Morbidelli L, Donnini S, Mitola S and 1 more
The Booroola (FecB) phenotype is associated with a mutation in the bone morphogenetic receptor type 1 B (BMPR1B) gene.
The Journal of endocrinology | 2001-05-01 | PMID 11312159
Souza C J, MacDougall C, MacDougall C and 3 more
Genes: ALK
H-2 allele specificity of the NK cell C-type lectin-like MHC class I receptor Ly49A visualized by soluble Ly49A tetramer.
International immunology | 2001-05-01 | PMID 11312249
Matsumoto N, Tajima K, Mitsuki M and 1 more
Canonical germinal center B cells may not dominate the memory response to antigenic challenge.
International immunology | 2001-05-01 | PMID 11312252
Lu Y F, Singh M, Cerny J
A site in the complement receptor 2 (CR2/CD21) silencer is necessary for lineage specific transcriptional regulation.
International immunology | 2001-05-01 | PMID 11312253
Makar K W, Ulgiati D, Hagman J and 1 more
The 3' Igkappa enhancer contains RNA polymerase II promoters: implications for endogenous and transgenic kappa gene expression.
International immunology | 2001-05-01 | PMID 11312254
Shen H M, Peters A, Kao D and 1 more
Inducible nitric-oxide synthase is regulated by the proteasome degradation pathway.
The Journal of biological chemistry | 2001-06-29 | PMID 11312270
Musial A, Eissa N T
Drosophila stoned proteins regulate the rate and fidelity of synaptic vesicle internalization.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-05-01 | PMID 11312288
Stimson D T, Estes P S, Rao S and 3 more
Equine infectious anemia virus genomic evolution in progressor and nonprogressor ponies.
Journal of virology | 2001-05-01 | PMID 11312327
Leroux C, Craigo J K, Issel C J and 1 more
During readaptation in vivo, a tissue culture-adapted strain of feline immunodeficiency virus reverts to broad neutralization resistance at different times in individual hosts but through changes at the same position of the surface glycoprotein.
Journal of virology | 2001-05-01 | PMID 11312328
Bendinelli M, Pistello M, Del Mauro D and 6 more
Enhancement of hepatitis C virus RNA replication by cell culture-adaptive mutations.
Journal of virology | 2001-05-01 | PMID 11312331
Krieger N, Lohmann V, Bartenschlager R
Cell-to-cell contact results in a selective translocation of maternal human immunodeficiency virus type 1 quasispecies across a trophoblastic barrier by both transcytosis and infection.
Journal of virology | 2001-05-01 | PMID 11312350
Lagaye S, Derrien M, Menu E and 7 more
Characterization of human immunodeficiency virus type 1 in saliva and blood plasma by V3-specific heteroduplex tracking assay and genotype analyses.
Journal of virology | 2001-05-01 | PMID 11312368
Freel S A, Williams J M, Nelson J A and 4 more
Patient-specific cytotoxic T-lymphocyte cross-recognition of naturally occurring variants of a human immunodeficiency virus type 1 (HIV-1) p24gag epitope by HIV-1-infected children.
Journal of virology | 2001-05-01 | PMID 11312369
Buseyne F, Chaix M L, Rouzioux C and 2 more
Sonic hedgehog and FGF8: inadequate signals for the differentiation of a dopamine phenotype in mouse and human neurons in culture.
Experimental neurology | 2001-05-01 | PMID 11312556
Stull N D, Iacovitti L
Genes: FGF8, FGF1
Therapeutic efficacy of G207 in a novel peripheral nerve sheath tumor model.
Experimental neurology | 2001-05-01 | PMID 11312559
Mashour G A, Moulding H D, Chahlavi A and 6 more
Structure-function analysis of Yersinia pestis YopM's interaction with alpha-thrombin to rule on its significance in systemic plague and to model YopM's mechanism of binding host proteins.
Microbial pathogenesis | 2001-04-01 | PMID 11312613
Hines J, Skrzypek E, Kajava A V and 1 more
Isolation and characterization of bacteriophage-resistant mutants of Vibrio cholerae O139.
Microbial pathogenesis | 2001-04-01 | PMID 11312617
Attridge S R, Fazeli A, Manning P A and 1 more
Capsid size determination in the P2-P4 bacteriophage system: suppression of sir mutations in P2's capsid gene N by supersid mutations in P4's external scaffold gene sid.
Virology | 2001-04-25 | PMID 11312661
Kim K J, Sunshine M G, Lindqvist B H and 1 more
Role of the LTR region between the enhancer and promoter in mink cell focus-forming murine leukemia virus pathogenesis.
Virology | 2001-04-25 | PMID 11312668
Yoshimura F K, Wang T
Molecular evolution of the gamma-Herpesvirinae.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2001-04-29 | PMID 11313003
McGeoch D J
The immunology of Epstein-Barr virus infection.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2001-04-29 | PMID 11313006
Moss D J, Burrows S R, Silins S L and 2 more
Epidemiology and pathogenesis of Kaposi's sarcoma-associated herpesvirus.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2001-04-29 | PMID 11313009
Boshoff C, Weiss R A
Epidemic keratoconjunctivitis caused by a new genotype of adenovirus type 8 (Ad8)-a chronological review of Ad8 in Southern Taiwan.
Japanese journal of ophthalmology | 2000-01-01 | PMID 11313048
Chang C, Sheu M, Chern C and 3 more
Genotoxicity of dill (Anethum graveolens L.), peppermint (Menthaxpiperita L.) and pine (Pinus sylvestris L.) essential oils in human lymphocytes and Drosophila melanogaster.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association | 2001-05-01 | PMID 11313115
Lazutka J R, Mierauskiene J, Slapsyte G and 1 more
Effect of pyrolysis temperature on the mutagenicity of tobacco smoke condensate.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association | 2001-05-01 | PMID 11313117
White J L, Conner B T, Perfetti T A and 5 more
FTIR spectroscopic analysis of Saccharomyces cerevisiae cell walls: study of an anomalous strain exhibiting a pink-colored cell phenotype.
FEMS microbiology letters | 2001-04-13 | PMID 11313132
Galichet A, Sockalingum G D, Belarbi A and 1 more
Characterization of the mutS-proximal region of the Salmonella typhimurium SPI-1 identifies a group of pathogenicity island-associated genes.
FEMS microbiology letters | 2001-04-13 | PMID 11313135
Pancetti A, Galán J E
The failure of different strains of Yersinia pestis to produce lipopolysaccharide O-antigen under different growth conditions is due to mutations in the O-antigen gene cluster.
FEMS microbiology letters | 2001-04-13 | PMID 11313139
Prior J L, Parkhill J, Hitchen P G and 8 more
Molecular analysis of genetic differences among inbred mouse strains controlling tissue expression pattern of alcohol dehydrogenase 4.
Gene | 2001-04-18 | PMID 11313141
Dolney D E, Szalai G, Duester G and 1 more
Genes: ADH4
Identification of a PD-(D/E)XK-like domain with a novel configuration of the endonuclease active site in the methyl-directed restriction enzyme Mrr and its homologs.
Gene | 2001-04-18 | PMID 11313145
Bujnicki J M, Rychlewski L
[Genetics of prostate cancer].
Bulletin du cancer | 2001-03-01 | PMID 11313206
Thomas F, Jaïs P, Cohen-Akenine A
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Blood | 2001-05-01 | PMID 11313241
Roetto A, Totaro A, Piperno A and 7 more
Genes: TFR2, HFE
Competition between normal [674C] and mutant [674R] subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes.
Blood | 2001-05-01 | PMID 11313253
Arias-Salgado E G, Butta N, González-Manchón C and 3 more
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.
Blood | 2001-05-01 | PMID 11313256
Koseki S, Souri M, Koga S and 6 more
Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.
Blood | 2001-05-01 | PMID 11313259
Sakai T, Matsuoka M, Aoki M and 2 more
Iron transport in a lymphoid cell line with the hemochromatosis C282Y mutation.
Blood | 2001-05-01 | PMID 11313265
Chitambar C R, Wereley J P
Genes: HFE
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Blood | 2001-05-01 | PMID 11313270
Corneo B, Moshous D, Güngör T and 5 more
Genes: RAG1, RAG2
T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.
Blood | 2001-05-01 | PMID 11313286
Ariga T, Oda N, Yamaguchi K and 9 more
Genes: ADA
Duodenal expression of a putative stimulator of Fe transport and transferrin receptor in anemia and hemochromatosis.
Gastroenterology | 2001-05-01 | PMID 11313310
Barisani D, Parafioriti A, Armiraglio E and 2 more
Genes: HFE
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Gastroenterology | 2001-05-01 | PMID 11313315
Jacquemin E, De Vree J M, Cresteil D and 10 more
Homozygosity for alanine in the mitochondrial targeting sequence of superoxide dismutase and risk for severe alcoholic liver disease.
Gastroenterology | 2001-05-01 | PMID 11313317
Degoul F, Sutton A, Mansouri A and 6 more
Mapping MHC-encoded susceptibility and resistance in primary sclerosing cholangitis: the role of MICA polymorphism.
Gastroenterology | 2001-05-01 | PMID 11313318
Norris S, Kondeatis E, Collins R and 7 more
Genes: MICA
A single domain of the replication termination protein of Bacillus subtilis is involved in arresting both DnaB helicase and RNA polymerase.
The Journal of biological chemistry | 2001-06-29 | PMID 11313334
Gautam A, Mulugu S, Alexander K and 1 more
Different mechanisms of the binding of soluble electron donors to the photosynthetic reaction center of Rubrivivax gelatinosus and Blastochloris viridis.
The Journal of biological chemistry | 2001-06-29 | PMID 11313347
Osyczka A, Nagashima K V, Sogabe S and 3 more
Characterization of Inherited Differences in Transcription of the Human Integrin alpha 2 Gene.
The Journal of biological chemistry | 2001-06-29 | PMID 11313353
Jacquelin B, Rozenshteyn D, Kanaji S and 3 more
A Gal4-sigma 54 hybrid protein that functions as a potent activator of RNA polymerase II transcription in yeast.
The Journal of biological chemistry | 2001-06-29 | PMID 11313364
Chen B S, Sun Z W, Hampsey M
Genes: ADA
Mice triallelic for the Ig heavy chain locus: implications for VHDJH recombination.
Journal of immunology (Baltimore, Md. : 1950) | 2001-05-01 | PMID 11313404
Barreto V, Meo T, Cumano A
Genes: RAG2
A heritable defect in IL-12 signaling in B10.Q/J mice. I. In vitro analysis.
Journal of immunology (Baltimore, Md. : 1950) | 2001-05-01 | PMID 11313413
Ortmann R, Smeltz R, Yap G and 2 more
A heritable defect in IL-12 signaling in B10.Q/J mice. II. Effect on acute resistance to Toxoplasma gondii and rescue by IL-18 treatment.
Journal of immunology (Baltimore, Md. : 1950) | 2001-05-01 | PMID 11313414
Yap G S, Ortmann R, Shevach E and 1 more
Salmonella pathogenicity island 2-encoded type III secretion system mediates exclusion of NADPH oxidase assembly from the phagosomal membrane.
Journal of immunology (Baltimore, Md. : 1950) | 2001-05-01 | PMID 11313417
Gallois A, Klein J R, Allen L A and 2 more
Mechanism for mutational inactivation of the tumor suppressor Smad2.
Molecular and cellular biology | 2001-05-01 | PMID 11313456
Prunier C, Ferrand N, Frottier B and 2 more
Nuclear export of 60s ribosomal subunits depends on Xpo1p and requires a nuclear export sequence-containing factor, Nmd3p, that associates with the large subunit protein Rpl10p.
Molecular and cellular biology | 2001-05-01 | PMID 11313466
Gadal O, Strauss D, Kessl J and 3 more
Localization of the Rsp5p ubiquitin-protein ligase at multiple sites within the endocytic pathway.
Molecular and cellular biology | 2001-05-01 | PMID 11313482
Wang G, McCaffery J M, Wendland B and 3 more
Coupling of mitotic chromosome tethering and replication competence in epstein-barr virus-based plasmids.
Molecular and cellular biology | 2001-05-01 | PMID 11313483
Kanda T, Otter M, Wahl G M
Expanding the genetic code of Escherichia coli.
Science (New York, N.Y.) | 2001-04-20 | PMID 11313494
Wang L, Brock A, Herberich B and 1 more
Enlarging the amino acid set of Escherichia coli by infiltration of the valine coding pathway.
Science (New York, N.Y.) | 2001-04-20 | PMID 11313495
Döring V, Mootz H D, Nangle L A and 4 more
astray, a zebrafish roundabout homolog required for retinal axon guidance.
Science (New York, N.Y.) | 2001-04-20 | PMID 11313496
Fricke C, Lee J S, Geiger-Rudolph S and 2 more
A GDP/GTP exchange factor involved in linking a spatial landmark to cell polarity.
Science (New York, N.Y.) | 2001-05-18 | PMID 11313501
Kang P J, Sanson A, Lee B and 1 more
Usefulness of microsatellite typing in population genetic studies of Trypanosoma cruzi.
Memorias do Instituto Oswaldo Cruz | 2001-04-01 | PMID 11313654
Macedo A M, Pimenta J R, Aguiar R S and 5 more
Coevolutionary networks: a novel approach to understanding the relationships of humans with the infectious agents.
Memorias do Instituto Oswaldo Cruz | 2001-04-01 | PMID 11313655
Tosta C E
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.
Revista do Hospital das Clinicas | 2000-01-01 | PMID 11313661
Albano L M, Sugayama S S, Bertola D R and 10 more
Baculoviruses and apoptosis: the good, the bad, and the ugly.
Cell death and differentiation | 2001-02-01 | PMID 11313715
Clem R J
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313740
Hitchins M P, Monk D, Bell G M and 4 more
Genes: GRB10
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313741
Bakker H D, de Sonnaville M L, Vreken P and 4 more
Genes: NAGA
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313742
Kalaydjieva L, Calafell F, Jobling M A and 8 more
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313743
Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C and 3 more
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313744
Sossi V, Giuli A, Vitali T and 5 more
Genes: SMN2, SMN1
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313745
Baysal B E, Willett-Brozick J E, Taschner P E and 3 more
Genes: SDHD, CRYAB, DLAT, HSPB2
PCAP is the major known prostate cancer predisposing locus in families from south and west Europe.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313747
Cancel-Tassin G, Latil A, Valéri A and 4 more
Genes: NPL
Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.
European journal of human genetics : EJHG | 2001-02-01 | PMID 11313748
Hollies C R, Monckton D G, Jeffreys A J
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313753
Zühlke C, Hellenbroich Y, Dalski A and 6 more
Genes: TBP
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313754
Bönsch D, Scheer P, Neumann C and 6 more
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313755
Rosenberg C, Wouters C H, Szuhai K and 6 more
Genes: MECP2
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313756
Nielsen J B, Henriksen K F, Hansen C and 3 more
Genes: MECP2
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313758
Livneh A, Aksentijevich I, Langevitz P and 8 more
Genes: MEFV
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313759
Hunt D M, Rickman L, Whittock N V and 13 more
Genes: DSG1
The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313760
Holt I, Clements L, Manilal S and 2 more
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313761
Giannakudis J, Röpke A, Kujat A and 7 more
Genes: JAG1
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313762
Horsley S W, Daniels R J, Anguita E and 13 more
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
European journal of human genetics : EJHG | 2001-03-01 | PMID 11313763
Löffler J, Nekahm D, Hirst-Stadlmann A and 4 more
Genes: GJB2
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313766
Mühl A, Möslinger D, Item C B and 1 more
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313767
Heath K E, Humphries S E, Middleton-Price H and 1 more
Genes: APOB, LDLR, NHS
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313768
Houten S M, Koster J, Romeijn G J and 10 more
Genes: MVK
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313769
Cuisset L, Drenth J P, Simon A and 5 more
Genes: MVK
Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313770
Nasidze I, Risch G M, Robichaux M and 3 more
Genes: ACE
The family based association test method: strategies for studying general genotype--phenotype associations.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313775
Horvath S, Xu X, Laird N M
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.
European journal of human genetics : EJHG | 2001-04-01 | PMID 11313776
Grasso M, Diegoli M, Brega A and 3 more
Safety and feasibility of injection with an E1B-55 kDa gene-deleted, replication-selective adenovirus (ONYX-015) into primary carcinomas of the pancreas: a phase I trial.
Gene therapy | 2001-02-01 | PMID 11313805
Mulvihill S, Warren R, Venook A and 4 more
Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells.
Oncogene | 2001-03-08 | PMID 11313858
Imamura O, Fujita K, Shimamoto A and 4 more
Genes: BLM
A novel mutation within the extracellular domain of TrkA causes constitutive receptor activation.
Oncogene | 2001-03-08 | PMID 11313867
Arevalo J C, Conde B, Hempstead B I and 3 more
Genes: NGF
Gene expression and amplification in breast carcinoma cells with intrinsic and acquired doxorubicin resistance.
Oncogene | 2001-03-15 | PMID 11313874
Turton N J, Judah D J, Riley J and 5 more
Genes: ABCB1, ABCB4, MMP1, OXTR
Coexpression of hepatocyte growth factor-Met: an early step in ovarian carcinogenesis?
Oncogene | 2001-03-15 | PMID 11313876
Wong A S, Pelech S L, Woo M M and 5 more
Genes: HGF
A variant of nuclear localization signal of bipartite-type is required for the nuclear translocation of hypoxia inducible factors (1alpha, 2alpha and 3alpha).
Oncogene | 2001-03-22 | PMID 11313887
Luo J C, Shibuya M
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours.
Oncogene | 2001-03-22 | PMID 11313894
Agathanggelou A, Honorio S, Macartney D P and 12 more
Genes: RASSF1