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Wyszukujesz frazę ""Hulsebos TJ"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł:
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Autorzy:
Paganini I; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
Chang VY; Division of Hematology-Oncology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA, USA.
Capone GL; 1] Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy [2] FIORGEN Fondazione Farmacogenomica Polo Scientifico, Sesto Fiorentino, Florence, Italy.
Vitte J; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Benelli M; Diagnostic Genetics Unit, Azienda Ospedaliero-Universitaria 'Careggi', Florence, Italy.
Barbetti L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
Sestini R; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
Trevisson E; Department of Woman and Child Health, Clinical Genetics Unit, University of Padua, Padua, Italy.
Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Giovannini M; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Nelson SF; Department of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry, University of California, Los Angeles, CA, USA.
Papi L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 963-8. Date of Electronic Publication: 2014 Oct 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Genetic Predisposition to Disease/*genetics
Neurilemmoma/*genetics
Neurofibromatoses/*genetics
Skin Neoplasms/*genetics
Transcription Factors/*genetics
Adult ; Aged ; Amino Acid Sequence ; Exome/genetics ; Family Health ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Molecular Sequence Data ; Neurilemmoma/metabolism ; Neurofibromatoses/metabolism ; Pedigree ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; Skin Neoplasms/metabolism ; Transcription Factors/metabolism ; Young Adult
SCR Disease Name:
Schwannomatosis
Czasopismo naukowe
Tytuł:
Focal chromosomal copy number aberrations identify CMTM8 and GPR177 as new candidate driver genes in osteosarcoma.
Autorzy:
Both J; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Krijgsman O; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Bras J; Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands.
Schaap GR; Department of Orthopedic Surgery, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Ylstra B; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
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Źródło:
PloS one [PLoS One] 2014 Dec 31; Vol. 9 (12), pp. e115835. Date of Electronic Publication: 2014 Dec 31 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Bone Neoplasms/*genetics
Chemokines/*genetics
DNA Copy Number Variations/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
MARVEL Domain-Containing Proteins/*genetics
Osteosarcoma/*genetics
Receptors, G-Protein-Coupled/*genetics
Adolescent ; Adult ; Cell Transformation, Neoplastic/genetics ; Child ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Female ; Gene Dosage/genetics ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Oncogenes/genetics ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins c-met/antagonists & inhibitors ; Tumor Suppressor Proteins/genetics ; Wnt Signaling Pathway/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Mutational profiling of kinases in glioblastoma.
Autorzy:
Bleeker FE; Department of Oncology, University of Torino, SP 142, Km 3,95, Candiolo, Torino, 10060, Italy; Candiolo Cancer Institute - FPO, IRCCS, Candiolo, Torino, Italy. .
Lamba S
Zanon C
Molenaar RJ
Hulsebos TJ
Troost D
van Tilborg AA
Vandertop WP
Leenstra S
van Noorden CJ
Bardelli A
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Źródło:
BMC cancer [BMC Cancer] 2014 Sep 26; Vol. 14, pp. 718. Date of Electronic Publication: 2014 Sep 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Mutational Analysis*
Glioblastoma/*enzymology
Glioblastoma/*genetics
Phosphotransferases/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cell Line, Tumor ; Female ; GTP Phosphohydrolases/genetics ; Humans ; Isocitrate Dehydrogenase/genetics ; MAP Kinase Signaling System ; Male ; Membrane Proteins/genetics ; Middle Aged ; Mutation ; PTEN Phosphohydrolase/genetics ; Tumor Suppressor Protein p53/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Identification of novel candidate oncogenes in chromosome region 17p11.2-p12 in human osteosarcoma.
Autorzy:
Both J; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Wu T
Bras J
Schaap GR
Baas F
Hulsebos TJ
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Źródło:
PloS one [PLoS One] 2012; Vol. 7 (1), pp. e30907. Date of Electronic Publication: 2012 Jan 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cloning, Molecular*/methods
Bone Neoplasms/*genetics
Chromosomes, Human, Pair 17/*genetics
Oncogenes/*genetics
Osteosarcoma/*genetics
Adolescent ; Adult ; Aged ; Bone Neoplasms/pathology ; Child ; Cohort Studies ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Osteosarcoma/pathology ; Tumor Cells, Cultured ; Young Adult
Czasopismo naukowe
Tytuł:
Myxoid epithelioid sarcoma: a diagnostic challenge. A report on six cases.
Autorzy:
Flucke U; Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands. />Hulsebos TJ
van Krieken JH
Mentzel T
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Źródło:
Histopathology [Histopathology] 2010 Nov; Vol. 57 (5), pp. 753-9.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Myoepithelioma/*pathology
Sarcoma/*pathology
Adolescent ; Adult ; Aged ; Chromosomal Proteins, Non-Histone/genetics ; DNA-Binding Proteins/genetics ; Female ; Humans ; Male ; Middle Aged ; Myoepithelioma/diagnosis ; Myoepithelioma/genetics ; SMARCB1 Protein ; Sarcoma/diagnosis ; Sarcoma/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł:
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.
Autorzy:
Ammerlaan AC; Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands.
Ararou A
Houben MP
Baas F
Tijssen CC
Teepen JL
Wesseling P
Hulsebos TJ
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Źródło:
British journal of cancer [Br J Cancer] 2008 Jan 29; Vol. 98 (2), pp. 474-9. Date of Electronic Publication: 2007 Dec 18.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Family*
Genetic Predisposition to Disease*
Germ-Line Mutation*
Inheritance Patterns*
Penetrance*
Chromosomal Proteins, Non-Histone/*genetics
DNA-Binding Proteins/*genetics
Rhabdoid Tumor/*genetics
Transcription Factors/*genetics
Adolescent ; Adult ; Base Sequence ; Child, Preschool ; Chromosomes, Human, Pair 22 ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Microsatellite Repeats/genetics ; Pedigree ; Rhabdoid Tumor/mortality ; SMARCB1 Protein ; Sex Characteristics ; Survival Analysis ; Syndrome ; Time Factors
Czasopismo naukowe
Tytuł:
Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas.
Autorzy:
Luijten M; Department of Human Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
Redeker S
van Noesel MM
Troost D
Westerveld A
Hulsebos TJ
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Dec; Vol. 8 (12), pp. 939-45.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Methylation*
Gene Silencing*
Promoter Regions, Genetic*
Repressor Proteins*
Microsatellite Repeats/*genetics
Nerve Tissue Proteins/*genetics
Neurofibroma/*genetics
Base Sequence ; Cyclic AMP Response Element Modulator ; DNA/analysis ; DNA-Binding Proteins/metabolism ; Humans ; Loss of Heterozygosity ; Molecular Sequence Data ; Neurofibromin 1 ; Sp1 Transcription Factor/metabolism
Czasopismo naukowe
Tytuł:
Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.
Autorzy:
Luijten M; Department of Human Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
Wang Y
Smith BT
Westerveld A
Smink LJ
Dunham I
Roe BA
Hulsebos TJ
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Mar; Vol. 8 (3), pp. 209-14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Chromosomes, Human, Pair 2*
Pseudogenes*
Proteins/*genetics
Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 22 ; DNA/analysis ; Evolution, Molecular ; Humans ; Molecular Sequence Data ; Neurofibromin 1 ; Nucleic Acid Hybridization ; Phylogeny ; Polymerase Chain Reaction ; Sequence Homology, Nucleic Acid
Czasopismo naukowe
Tytuł:
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2.
Autorzy:
Hulsebos TJ; Department of Human Genetics, University of Amsterdam, The Netherlands.
Oskam NT
Bijleveld EH
Westerveld A
Hermsen MA
van den Ouweland AM
Hamel BC
Tijssen CC
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Źródło:
British journal of cancer [Br J Cancer] 1999 Dec; Vol. 81 (7), pp. 1150-4.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 22*
Genes, Tumor Suppressor*
Central Nervous System Neoplasms/*genetics
Ependymoma/*genetics
Chromosome Segregation ; Cytogenetic Analysis ; Genetic Predisposition to Disease ; Humans ; Nucleic Acid Hybridization ; Pedigree
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

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