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Wyświetlanie 1-100 z 423
Tytuł:
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.
Autorzy:
Annunziata S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.; Child Neurology and Psychiatry Unit, Brain and Behavioral Sciences Department, University of Pavia, 27100, Pavia, Italy.
Bulgheroni S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
D'Arrigo S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy. .
Taddei M; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Alfei E; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.; Pediatric Neurology Unit, 'Vittore Buzzi' Children's Hospital ASST Fatebenefratelli-Sacco, 20100, Milan, Italy.
Sciacca FL; Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Rizzo A; Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Pantaleoni C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
Riva D; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Feb; Vol. 53 (2), pp. 615-623. Date of Electronic Publication: 2021 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/genetics
Child Development Disorders, Pervasive*
Humans ; Child ; Comparative Genomic Hybridization/methods ; DNA Copy Number Variations/genetics ; Cognition
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.
Autorzy:
Ohashi K; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Fukuhara S; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Miyachi T; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Asai T; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Imaeda M; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Goto M; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Kurokawa Y; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Anzai T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Faculty of Nutritional Science, Sagami Women's University, Kanagawa, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yamagata T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Dec; Vol. 51 (12), pp. 4655-4662. Date of Electronic Publication: 2021 Feb 15.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genetic Predisposition to Disease ; Genetic Testing ; Genomics ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.
Autorzy:
Napoli E; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Russo S; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Casula L; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Alesi V; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Amendola FA; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Angioni A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Valeri G; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Menghini D; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Vicari S; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2018 Feb; Vol. 48 (2), pp. 442-449.
Typ publikacji:
Journal Article
MeSH Terms:
Phenotype*
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*genetics
Comparative Genomic Hybridization/*methods
Child ; Child, Preschool ; Cohort Studies ; DNA Copy Number Variations/genetics ; Female ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
DNA copy number alterations, gene expression changes and disease-free survival in patients with colorectal cancer: a 10 year follow-up.
Autorzy:
Bigagli E; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. .
De Filippo C; Institute of Biometeorology (IBIMET), National Research Council (CNR), Florence, Italy.
Castagnini C; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
Toti S; ISTAT, Rome, Italy.
Acquadro F; Molecular Cytogenetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre-CNIO, Madrid, Spain.
Giudici F; Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Fazi M; Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Dolara P; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
Messerini L; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Tonelli F; Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Luceri C; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2016 Dec; Vol. 39 (6), pp. 545-558. Date of Electronic Publication: 2016 Oct 05.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms/*genetics
DNA Copy Number Variations/*genetics
Transcriptome/*genetics
Aged ; Aged, 80 and over ; Colorectal Neoplasms/mortality ; Comparative Genomic Hybridization ; Disease-Free Survival ; Female ; Follow-Up Studies ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Middle Aged ; Multidrug Resistance-Associated Protein 2 ; Oligonucleotide Array Sequence Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
High-level copy number gains of established and potential drug target genes in gastric cancer as a lead for treatment development and selection.
Autorzy:
Labots M; Department of Medical Oncology, VU University Medical Center, Amsterdam, The Netherlands.
Buffart TE
Haan JC
van Grieken NC
Tijssen M
van de Velde CJ
Grabsch HI
Ylstra B
Carvalho B
Fijneman RJ
Verheul HM
Meijer GA
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2014 Feb; Vol. 37 (1), pp. 41-52. Date of Electronic Publication: 2013 Dec 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Genetic Predisposition to Disease/*genetics
Molecular Targeted Therapy/*methods
Stomach Neoplasms/*drug therapy
Stomach Neoplasms/*genetics
Antineoplastic Agents/therapeutic use ; Cluster Analysis ; Comparative Genomic Hybridization ; DNA, Neoplasm/genetics ; Gene Expression Regulation, Neoplastic/drug effects ; Humans ; Reproducibility of Results ; Stomach Neoplasms/pathology ; Transcriptome/drug effects ; Transcriptome/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Detection limits of DNA copy number alterations in heterogeneous cell populations.
Autorzy:
Krijgsman O; Department of Pathology, VU University Medical Center, MB, Amsterdam, The Netherlands.
Israeli D
van Essen HF
Eijk PP
Berens ML
Mellink CH
Nieuwint AW
Weiss MM
Steenbergen RD
Meijer GA
Ylstra B
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2013 Feb; Vol. 36 (1), pp. 27-36. Date of Electronic Publication: 2012 Nov 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Comparative Genomic Hybridization/*methods
DNA Copy Number Variations/*genetics
Oligonucleotide Array Sequence Analysis/*methods
Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Cell Line, Tumor ; DNA/analysis ; DNA/genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
EGFR status and KRAS/BRAF mutations in intestinal-type sinonasal adenocarcinomas.
Autorzy:
García-Inclán C; Department of Otolaryngology, IUOPA, Hospital Universitario Central de Asturias, Oviedo, Spain.
López F
Pérez-Escuredo J
Cuesta-Albalad MP
Vivanco B
Centeno I
Balbín M
Suárez C
Llorente JL
Hermsen MA
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2012 Dec; Vol. 35 (6), pp. 443-50. Date of Electronic Publication: 2012 Oct 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Adenocarcinoma/*genetics
ErbB Receptors/*genetics
Nose Neoplasms/*genetics
Paranasal Sinuses/*pathology
Proto-Oncogene Proteins/*genetics
Proto-Oncogene Proteins B-raf/*genetics
ras Proteins/*genetics
Adenocarcinoma/pathology ; Adult ; Aged ; Aged, 80 and over ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Female ; Gene Dosage ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Nose Neoplasms/pathology ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; Proto-Oncogene Proteins p21(ras) ; Tissue Array Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Discovery of TP53 splice variants in two novel papillary urothelial cancer cell lines.
Autorzy:
Koch A; Urologische Klinik, Heinrich-Heine-Universität, Düsseldorf, Germany.
Hatina J
Rieder H
Seifert HH
Huckenbeck W
Jankowiak F
Florl AR
Stoehr R
Schulz WA
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2012 Aug; Vol. 35 (4), pp. 243-57. Date of Electronic Publication: 2012 Jun 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing*
Carcinoma, Papillary/*genetics
Tumor Suppressor Protein p53/*genetics
Urinary Bladder Neoplasms/*genetics
Urothelium/*metabolism
Base Sequence ; Blotting, Western ; Carcinoma, Papillary/metabolism ; Carcinoma, Papillary/pathology ; Cell Line, Tumor ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; DNA Mutational Analysis ; Humans ; Immunohistochemistry ; Molecular Sequence Data ; Mutation ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic/genetics ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Receptor, Fibroblast Growth Factor, Type 3/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Homology, Nucleic Acid ; Spectral Karyotyping ; Tumor Suppressor Protein p53/metabolism ; Urinary Bladder Neoplasms/metabolism ; Urinary Bladder Neoplasms/pathology ; Urothelium/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hypomethylation of LINE-1, and not centromeric SAT-α, is associated with centromeric instability in head and neck squamous cell carcinoma.
Autorzy:
Martínez JG; Department of Otolaryngology, Instituto Universitario de Oncología del Principado de Asturias, Hospital Universitario Central de Asturias, Oviedo, Spain.
Pérez-Escuredo J
Castro-Santos P
Marcos CA
Pendás JL
Fraga MF
Hermsen MA
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2012 Aug; Vol. 35 (4), pp. 259-67. Date of Electronic Publication: 2012 Jun 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
Head and Neck Neoplasms/*genetics
Long Interspersed Nucleotide Elements/*genetics
Repetitive Sequences, Nucleic Acid/*genetics
Aged ; Aged, 80 and over ; Cell Line, Tumor ; Centromere/genetics ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Head and Neck Neoplasms/pathology ; Humans ; Karyotyping ; Male ; Middle Aged ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genomic aberrations relate early and advanced stage ovarian cancer.
Autorzy:
Zaal A; Department of Gynaecological Oncology, University Medical Center Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands. />Peyrot WJ
Berns PM
van der Burg ME
Veerbeek JH
Trimbos JB
Cadron I
van Diest PJ
van Wieringen WN
Krijgsman O
Meijer GA
Piek JM
Timmers PJ
Vergote I
Verheijen RH
Ylstra B
Zweemer RP
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Corporate Authors:
EORTC GCG Translational Research Group
Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2012 Jun; Vol. 35 (3), pp. 181-8. Date of Electronic Publication: 2012 May 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Genome, Human/*genetics
Ovarian Neoplasms/*genetics
Ovarian Neoplasms/*pathology
Adult ; Aged ; Aged, 80 and over ; Cluster Analysis ; Comparative Genomic Hybridization ; Disease-Free Survival ; Female ; Gene Dosage/genetics ; Humans ; Kaplan-Meier Estimate ; Middle Aged ; Neoplasm Staging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genomic aberrations in normal appearing mucosa fields distal from oral potentially malignant lesions.
Autorzy:
Giaretti W; Department of Diagnostic Oncology, Biophysics and Cytometry, National Institute for Cancer Research, Genoa, GE, Italy. />Maffei M
Pentenero M
Scaruffi P
Donadini A
Di Nallo E
Malacarne D
Marino R
Familiari U
Coco S
Tonini GP
Castagnola P
Gandolfo S
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2012 Feb; Vol. 35 (1), pp. 43-52. Date of Electronic Publication: 2011 Dec 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Genome, Human/*genetics
Mouth Mucosa/*pathology
Mouth Neoplasms/*genetics
Mouth Neoplasms/*pathology
Precancerous Conditions/*genetics
Precancerous Conditions/*pathology
Adult ; Aged ; Aneuploidy ; Chromosomes, Human/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; DNA, Neoplasm/genetics ; Female ; Flow Cytometry ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type.
Autorzy:
Costa AF; Department of Pathology, University of Campinas/UNICAMP, Brazil. />Altemani A
Vékony H
Bloemena E
Fresno F
Suárez C
Llorente JL
Hermsen M
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2011 Aug; Vol. 34 (4), pp. 369-79. Date of Electronic Publication: 2011 May 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carcinoma, Adenoid Cystic/*genetics
Cell Transformation, Neoplastic/*genetics
Actins/metabolism ; Adenocarcinoma/genetics ; Adenocarcinoma/pathology ; Adult ; Aged ; Carcinoma, Adenoid Cystic/pathology ; Cell Differentiation ; Cell Transformation, Neoplastic/pathology ; Chromosomes, Human, Pair 6/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; Humans ; Immunohistochemistry ; Ki-67 Antigen/metabolism ; Male ; Middle Aged ; Neoplasm Grading ; Oligonucleotide Array Sequence Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Deletion of chromosome 4q predicts outcome in stage II colon cancer patients.
Autorzy:
Brosens RP; Department of Surgery, VU University Medical Centre, Amsterdam, the Netherlands.
Belt EJ
Haan JC
Buffart TE
Carvalho B
Grabsch H
Quirke P
Cuesta MA
Engel AF
Ylstra B
Meijer GA
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2011 Jun; Vol. 34 (3), pp. 215-23. Date of Electronic Publication: 2011 Jun 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 4/*genetics
Colonic Neoplasms/*genetics
Colonic Neoplasms/*pathology
Aged ; Aged, 80 and over ; Colonic Neoplasms/therapy ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Female ; Humans ; Kaplan-Meier Estimate ; Male ; Microsatellite Instability ; Middle Aged ; Neoplasm Staging ; Recurrence ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification.
Autorzy:
Klink B; Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany. />Schlingelhof B
Klink M
Stout-Weider K
Patt S
Schrock E
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Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2011 Jun; Vol. 34 (3), pp. 261-75. Date of Electronic Publication: 2011 May 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Glioblastoma/*genetics
Glioblastoma/*pathology
Oligodendroglia/*metabolism
Oligodendroglia/*pathology
Adult ; Aged ; Astrocytes/metabolism ; Astrocytes/pathology ; Chromosomes, Human/genetics ; Comparative Genomic Hybridization ; Female ; Glioblastoma/classification ; Glioblastoma/radiotherapy ; Humans ; In Situ Hybridization, Fluorescence ; Interphase ; Male ; Middle Aged ; Multivariate Analysis ; Survival Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Establishment and genetic characterization of an immortal tumor cell line derived from intestinal-type sinonasal adenocarcinoma.
Autorzy:
Pérez-Escuredo J; Department of Otolaryngology, IUOPA, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain. />García Martínez J
García-Inclán C
Vivanco B
Costales M
Álvarez Marcos C
Llorente JL
Hermsen MA
Pokaż więcej
Źródło:
Cellular oncology (Dordrecht) [Cell Oncol (Dordr)] 2011 Feb; Vol. 34 (1), pp. 23-31. Date of Electronic Publication: 2011 Jan 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenocarcinoma/*genetics
Adenocarcinoma/*pathology
Cell Line, Transformed/*pathology
Intestinal Neoplasms/*genetics
Intestinal Neoplasms/*pathology
Paranasal Sinus Neoplasms/*genetics
Paranasal Sinus Neoplasms/*pathology
Aged ; Base Sequence ; Cell Line, Tumor ; Cell Proliferation ; Cell Shape ; Comparative Genomic Hybridization ; ErbB Receptors/metabolism ; Gene Dosage ; Genes, Neoplasm/genetics ; Homozygote ; Humans ; Male ; Molecular Sequence Data
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.
Autorzy:
Ozgen HM; Department of Child and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, HP B01.201, GA, Utrecht, The Netherlands. />Staal WG
Barber JC
de Jonge MV
Eleveld MJ
Beemer FA
Hochstenbach R
Poot M
Pokaż więcej
Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2009 Feb; Vol. 39 (2), pp. 322-9. Date of Electronic Publication: 2008 Aug 12.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Aberrations*
Chromosomes, Human, Pair 8*
Gene Duplication*
Autistic Disorder/*genetics
Autistic Disorder/*psychology
Self Mutilation/*genetics
Adolescent ; Autistic Disorder/diagnosis ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Developmental Disabilities/psychology ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Intellectual Disability/psychology ; Male ; Self Mutilation/physiopathology ; Self Mutilation/psychology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-100 z 423

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