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Tytuł:
Wisconsin syndrome with brain volume laterality: a case report and review of the literature.
Autorzy:
Okano S; Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Children, 2-1-1-43 Shunkodai Asahikawa, Hokkaido, 071-8142, Japan. .
Makita Y; Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan.
Kimura K; Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Children, 2-1-1-43 Shunkodai Asahikawa, Hokkaido, 071-8142, Japan.
Fukuda I; Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Children, 2-1-1-43 Shunkodai Asahikawa, Hokkaido, 071-8142, Japan.
Miyamoto A; Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Children, 2-1-1-43 Shunkodai Asahikawa, Hokkaido, 071-8142, Japan.
Tanaka H; Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Children, 2-1-1-43 Shunkodai Asahikawa, Hokkaido, 071-8142, Japan.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2022 Apr 16; Vol. 16 (1), pp. 153. Date of Electronic Publication: 2022 Apr 16.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Chromosome Aberrations*
Chromosome Deletion*
Brain/diagnostic imaging ; Facies ; Female ; Humans ; Phenotype ; Syndrome ; Wisconsin
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome.
Autorzy:
Takemoto T; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Baba M; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Yokoyama K; Discovery Accelerator, Astellas Pharma Inc., Tsukuba-shi, Ibaraki, 305-8585, Japan.
Kitagawa K; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Nagayasu K; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.; Department of Molecular Pharmacology, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto, 606-8501, Japan.
Ago Y; Department of Cellular and Molecular Pharmacology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Minami-ku, Hiroshima, 734-8553, Japan.
Seiriki K; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.; Interdisciplinary Program for Biomedical Sciences, Institute for Transdisciplinary Graduate Degree Programs, Osaka University, Suita, Osaka, 565-0871, Japan.
Hayata-Takano A; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.; United Graduate School of Child Development, Molecular Research Center for Children's Mental Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Osaka, 565-0871, Japan.
Kasai A; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Mori D; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.; Brain and Mind Research Center, Nagoya University, Nagoya, Aichi, 466-8550, Japan.
Ozaki N; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Takuma K; United Graduate School of Child Development, Molecular Research Center for Children's Mental Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Osaka, 565-0871, Japan.; Department of Pharmacology, Graduate School of Dentistry, Osaka University, Suita, Osaka, 565-0871, Japan.
Hashimoto R; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan.
Hashimoto H; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan. .; United Graduate School of Child Development, Molecular Research Center for Children's Mental Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University and University of Fukui, Suita, Osaka, 565-0871, Japan. .; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan. .; Division of Bioscience, Institute for Datability Science, Osaka University, Suita, Osaka, 565-0871, Japan. .; Transdimensional Life Imaging Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Osaka, 565-0871, Japan. .; Department of Molecular Pharmaceutical Science, Graduate School of Medicine, Osaka University, Suita, Osaka, 565-0871, Japan. .
Nakazawa T; Laboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan. .; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan. .; Laboratory of Molecular Biology, Department of Bioscience, Graduate School of Life Sciences, Tokyo University of Agriculture, 1-1-1 Sakuragaoka, Setagaya-ku, Tokyo, 156-8502, Japan. .
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Źródło:
Molecular brain [Mol Brain] 2022 Mar 28; Vol. 15 (1), pp. 26. Date of Electronic Publication: 2022 Mar 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autism Spectrum Disorder*/drug therapy
Autism Spectrum Disorder*/genetics
Chromosome Deletion*
Intellectual Disability*
Oxytocin*/pharmacology
Social Behavior*
Animals ; Brain ; Chromosomes, Human, Pair 3 ; Developmental Disabilities ; Disease Models, Animal ; Mice
SCR Disease Name:
Chromosome 3q29 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Determining chromosomal arms 1p/19q co-deletion status in low graded glioma by cross correlation-periodogram pattern analysis.
Autorzy:
Bhattacharya D; Networking and Communication, International Institute of Information Technology, Bangalore, 560100, India.
Sinha N; Networking and Communication, International Institute of Information Technology, Bangalore, 560100, India. .
Saini J; Neuroimaging and interventional radiology, National Institute of Mental Health and Neuro Science, Bengaluru, 560029, India.
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Źródło:
Scientific reports [Sci Rep] 2021 Dec 13; Vol. 11 (1), pp. 23866. Date of Electronic Publication: 2021 Dec 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Brain Neoplasms/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 19/*genetics
Glioma/*genetics
Magnetic Resonance Imaging/*methods
Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/pathology ; Glioma/diagnostic imaging ; Glioma/pathology ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.
Autorzy:
Khalili A; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. abbas_khalili_.
Yadegari AH; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. .
Delavari S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. .
Yazdani R; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. reza_.
Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden. .
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Źródło:
Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2021 Dec 08; Vol. 20 (6), pp. 778-783. Date of Electronic Publication: 2021 Dec 08.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Agammaglobulinemia/*diagnosis
Chromosomes, Human, Pair 14/*genetics
Disseminated Intravascular Coagulation/*etiology
Immunoglobulin Heavy Chains/*genetics
Agammaglobulinemia/complications ; Agammaglobulinemia/genetics ; Agammaglobulinemia/immunology ; Child, Preschool ; Disseminated Intravascular Coagulation/diagnosis ; Female ; Genetic Markers ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Autorzy:
Ben Ayed I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
Bouzid A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
Kammoun F; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory, Sfax University, Sfax, Tunisia.
Souissi A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Jallouli O; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory, Sfax University, Sfax, Tunisia.
Mallouli S; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory, Sfax University, Sfax, Tunisia.
Guidara S; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Loukil S; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Aloulou H; Pediatric Department, Hedi Chaker University Hospital, University of Sfax, Sfax, Tunisia.
Jbeli F; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Aouichaoui S; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.
Abid D; Cardiology Department, Hedi Chaker University Hospital, University of Sfax, Sfax, Tunisia.
Abdelhedi F; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Triki C; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory, Sfax University, Sfax, Tunisia.
Kamoun H; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Laboratory of Human Molecular Genetics, LR33ES99, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Masmoudi S; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1811. Date of Electronic Publication: 2021 Sep 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Basic Helix-Loop-Helix Transcription Factors/*genetics
Cell Cycle Proteins/*genetics
Chromosomes, Human, Pair 8/*genetics
Heart Defects, Congenital/*genetics
Neurodevelopmental Disorders/*genetics
Child ; Heart Defects, Congenital/pathology ; Humans ; Male ; Neurodevelopmental Disorders/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Autorzy:
Mohamed AM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Kamel AK; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Eid MM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Eid OM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Mekkawy M; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Hussein SH; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Zaki MS; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Esmail S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Afifi HH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
El-Kamah GY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Otaify GA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
El-Awady HA; Department of Pediatrics, Faculty of Medicine, Fayoum University, Fayoum, Egypt.
Elaidy A; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Essa MY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
El-Ruby M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Ashaat EA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Hammad SA; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.
Mazen I; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Abdel-Salam GMH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Aglan M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Temtamy S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1829. Date of Electronic Publication: 2021 Oct 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Craniosynostoses*/genetics
Chromosomes ; Egypt ; Humans ; Karyotyping
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Autorzy:
Tosca L; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Drévillon L; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Mouka A; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Lecerf L; Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.; Institut National de la Santé et de la Recherche Médicale, U955, Créteil, France.; Faculté de Médecine, Université Paris-Est, Créteil, France.
Briand A; Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.
Ortonne V; Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.
Benoit V; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Brisset S; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
Laudouar Q; Service de Réanimation Néonatale, AP-HP. Université Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.
Heide S; UF Génétique Clinique, AP-HP. Sorbonne Université, Hôpital universitaire Pitié-Salpêtrière, Paris, France.
Goossens M; Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.
Giurgea I; Département de Génétique Médicale, INSERM Childhood Genetic Diseases, AP-HP. Sorbonne Université, Hôpital Trousseau, Paris, France.
Tachdjian G; Service d'Histologie, Embryologie et Cytogénétique, AP-HP. Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France.
Métay C; Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1645. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 7/*genetics
Craniofacial Abnormalities/*genetics
DNA-Binding Proteins/*genetics
Developmental Disabilities/*genetics
Membrane Proteins/*genetics
Nerve Tissue Proteins/*genetics
Child, Preschool ; Chromosome Disorders/pathology ; Craniofacial Abnormalities/pathology ; Developmental Disabilities/pathology ; Haploinsufficiency ; Humans ; Male ; Noninvasive Prenatal Testing ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Autorzy:
Vysotskiy M; Department of Psychiatry and Behavioral Sciences, University of California San Francisco, 513 Parnassus Ave., Health Sciences East 9th floor HSE901E, San Francisco, CA, 94143, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, 94143, USA.; Pharmaceutical Sciences and Pharmacogenomics Graduate Program, University of California San Francisco, San Francisco, CA, 94143, USA.
Zhong X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Vanderbilt Genetics Institute, Nashville, TN, 37232, USA.
Miller-Fleming TW; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Vanderbilt Genetics Institute, Nashville, TN, 37232, USA.
Zhou D; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Vanderbilt Genetics Institute, Nashville, TN, 37232, USA.
Cox NJ; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Vanderbilt Genetics Institute, Nashville, TN, 37232, USA.
Weiss LA; Department of Psychiatry and Behavioral Sciences, University of California San Francisco, 513 Parnassus Ave., Health Sciences East 9th floor HSE901E, San Francisco, CA, 94143, USA. .; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA. .; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, 94143, USA. .
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Corporate Authors:
Autism Working Group of the Psychiatric Genomics Consortium^
Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^
Schizophrenia Working Group of the Psychiatric Genomics Consortium^
Źródło:
Genome medicine [Genome Med] 2021 Oct 29; Vol. 13 (1), pp. 172. Date of Electronic Publication: 2021 Oct 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Chromosome Deletion*
Chromosome Disorders*
DNA Copy Number Variations*
Transcriptome*
Autistic Disorder/*genetics
Chromosomes, Human, Pair 16/*genetics
DiGeorge Syndrome/*genetics
Autism Spectrum Disorder/genetics ; Genotype ; Humans ; Intellectual Disability/genetics ; Phenotype ; Psychotic Disorders/genetics ; Scavenger Receptors, Class F/genetics ; Schizophrenia/genetics ; Tumor Suppressor Proteins/genetics
SCR Disease Name:
16p11.2 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.
Autorzy:
Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.; Bioinformatics and Genomics Program, Huck Institute of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.
Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.; Neuroscience Program, Huck Institute of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.
Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.
Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.; Bioinformatics and Genomics Program, Huck Institute of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.
Das M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.
Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA.
Krishnan A; Department of Computational Mathematics, Science and Engineering, Michigan State University, East Lansing, MI, 48824, USA.; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, 48824, USA.
Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, PA, 16802, University Park, USA. .; Bioinformatics and Genomics Program, Huck Institute of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA. .; Neuroscience Program, Huck Institute of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA. .; Department of Anthropology, Pennsylvania State University, University Park, PA, 16802, USA. .
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Źródło:
Genome medicine [Genome Med] 2021 Oct 18; Vol. 13 (1), pp. 163. Date of Electronic Publication: 2021 Oct 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Biological Variation, Population*
Chromosome Deletion*
Gene Expression*
Ankyrins/genetics ; Autistic Disorder/genetics ; Brain ; Family ; Forkhead Transcription Factors/genetics ; Humans ; Phenotype ; Phosphoric Monoester Hydrolases/genetics ; Repressor Proteins/genetics ; Transcription Factors/genetics ; Exome Sequencing ; Whole Genome Sequencing ; Zinc Finger E-box Binding Homeobox 2/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.
Autorzy:
Durmaz CD; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
Altıner Ş; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.; Department of Medical Genetics, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.
Taşdelen E; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
Karabulut HG; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
Ruhi HI; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2021 Oct; Vol. 40 (5), pp. 486-492. Date of Electronic Publication: 2020 Jan 30.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Human Growth Hormone/*deficiency
Humans ; Phenotype ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.
Autorzy:
Benbouchta Y; Department of Medical Genetics, National Institute of Health, Rabat, Morocco. .; Laboratory of Human Pathology, Faculty of Sciences, Mohammed V University, Rabat, Morocco. .
De Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Amasdl S; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Sbiti A; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Smeets D; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomic Center of Human Pathologies, Medical School and Pharmacy, University Mohammed V, Rabat, Morocco.
Sadki K; Laboratory of Human Pathology, Faculty of Sciences, Mohammed V University, Rabat, Morocco.
Sefiani A; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomic Center of Human Pathologies, Medical School and Pharmacy, University Mohammed V, Rabat, Morocco.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2021 Sep 16; Vol. 47 (1), pp. 188. Date of Electronic Publication: 2021 Sep 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 15/*genetics
Growth Disorders/*genetics
Heart Defects, Congenital/*genetics
Intellectual Disability/*genetics
Child, Preschool ; Consanguinity ; Failure to Thrive/genetics ; Female ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
WHO grade I meningiomas that show regrowth after gamma knife radiosurgery often show 1p36 loss.
Autorzy:
Damen PJJ; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands.
Bulthuis VJ; Department of Neurosurgery, Maastricht University Medical Center, Maastricht, The Netherlands.
Hanssens PEJ; Gamma Knife Center Tilburg, ETZ-Elisabeth Hospital, Tilburg, The Netherlands.
Lie ST; Gamma Knife Center Tilburg, ETZ-Elisabeth Hospital, Tilburg, The Netherlands.
Fleischeuer R; Department of Pathology, ETZ-Elisabeth Hospital, Tilburg, The Netherlands.
Melotte V; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands.
Wouters KA; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands.
Ruland A; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands.
Beckervordersandforth J; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands.
Speel EJM; Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, Postbox 5800, 6202 AZ, Maastricht, The Netherlands. .
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Źródło:
Scientific reports [Sci Rep] 2021 Aug 12; Vol. 11 (1), pp. 16432. Date of Electronic Publication: 2021 Aug 12.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Meningeal Neoplasms/*pathology
Meningeal Neoplasms/*radiotherapy
Meningioma/*pathology
Meningioma/*radiotherapy
Neoplasm Recurrence, Local/*pathology
Radiosurgery/*methods
Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Survival Rate ; Treatment Outcome ; World Health Organization
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Autorzy:
Liu J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Liu Q; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Yang S; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Ma N; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Pang J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Peng Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Xi H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Jia Z; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Luo Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Jiang M; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Teng Y; Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
Yu W; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Li Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China.
Wang H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Aug; Vol. 9 (8), pp. e1750. Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Chromosome Deletion*
Arrhythmias, Cardiac/*genetics
Chromosomes, Human, X/*genetics
Genetic Diseases, X-Linked/*genetics
Gigantism/*genetics
Glypicans/*genetics
Heart Defects, Congenital/*genetics
Intellectual Disability/*genetics
Aborted Fetus/abnormalities ; Aborted Fetus/diagnostic imaging ; Adult ; Arrhythmias, Cardiac/diagnostic imaging ; Arrhythmias, Cardiac/pathology ; Female ; Genetic Diseases, X-Linked/diagnostic imaging ; Genetic Diseases, X-Linked/pathology ; Genetic Testing ; Gigantism/diagnostic imaging ; Gigantism/pathology ; Heart Defects, Congenital/diagnostic imaging ; Heart Defects, Congenital/pathology ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/pathology ; Ultrasonography, Prenatal
SCR Disease Name:
Simpson-Golabi-Behmel syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.
Autorzy:
Parker DA; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA. .
Cubells JF; Department of Human Genetics; Emory Autism Center; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Decatur, GA, 30033, USA.
Imes SL; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Ruban GA; Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Henshey BT; Emory University, Whitehead Biomedical Research Building 615 Michael Street Suite 301, Atlanta, GA, 30322, USA.
Massa NM; Atlanta Veterans Administration Health Care System, 1670 Clairmont Road, Decatur, GA, 30033, USA.
Walker EF; Department of Psychology, Emory University, Psychology and Interdisciplinary Sciences Building Suite 487, 36 Eagle Row, Atlanta, GA, 30322, USA.
Duncan EJ; Atlanta Veterans Administration Health Care System, 1670 Clairmont Road, Decatur, GA, 30033, USA.; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Brain Health Center, 12 Executive Park Dr, Atlanta, GA, 30329, USA.
Ousley OY; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Decatur, GA, USA.
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Źródło:
BMC psychiatry [BMC Psychiatry] 2023 Jun 13; Vol. 23 (1), pp. 425. Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
DiGeorge Syndrome*/diagnosis
Psychotic Disorders*
Autistic Disorder*/diagnosis
Child Development Disorders, Pervasive*
Adolescent ; Adult ; Humans ; Child ; Young Adult ; Middle Aged ; Longitudinal Studies ; Chromosome Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
Autorzy:
Ismail A; Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, 40170, Shah Alam, Selangor, Malaysia.
Ahid F; Centre for Medical Laboratory Technology Studies, Faculty of Health Sciences, Universiti Teknologi MARA, 42300, Puncak Alam, Selangor, Malaysia. .; Stem Cell and Regenerative Medicine Research Initiative Group, Universiti Teknologi MARA, 40450, Shah Alam, Selangor, Malaysia. .
Thong MK; Department of Pediatrics, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Zakaria Z; Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, 40170, Shah Alam, Selangor, Malaysia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Jun 10; Vol. 17 (1), pp. 250. Date of Electronic Publication: 2023 Jun 10.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Humans ; Comparative Genomic Hybridization ; Chromosomes, Human, Pair 18/genetics ; Chromosome Deletion
SCR Disease Name:
Chromosome 18 deletion syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
Autorzy:
Tang F; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Zeng Y; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Wang L; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Yin D; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Chen L; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Xie D; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Wang J; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2155. Date of Electronic Publication: 2023 Feb 27.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Wolf-Hirschhorn Syndrome*/diagnostic imaging
Wolf-Hirschhorn Syndrome*/genetics
Female ; Humans ; Pregnancy ; Retrospective Studies ; DNA Copy Number Variations ; Chromosome Deletion ; Phenotype ; Fetal Growth Retardation/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability.
Autorzy:
Openshaw RL; School of Psychology and Neuroscience, College of Medical, Veterinary and Life Sciences, University of Glasgow, Sir James Black Building, Glasgow, G12 8QQ, UK.
Thomson DM; Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, G4 0RE, UK.
Bristow GC; Department of Biomedical and Life Sciences, Lancaster University, Lancaster, LA1 4YW, UK.; School of Pharmacy and Medical Sciences, University of Bradford, Bradford, BD7 1DP, UK.
Mitchell EJ; Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, G4 0RE, UK.
Pratt JA; Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, G4 0RE, UK.
Morris BJ; School of Psychology and Neuroscience, College of Medical, Veterinary and Life Sciences, University of Glasgow, Sir James Black Building, Glasgow, G12 8QQ, UK. .
Dawson N; Department of Biomedical and Life Sciences, Lancaster University, Lancaster, LA1 4YW, UK. .
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Źródło:
Communications biology [Commun Biol] 2023 May 24; Vol. 6 (1), pp. 557. Date of Electronic Publication: 2023 May 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Auditory Cortex*
Autism Spectrum Disorder*/genetics
Humans ; Animals ; Male ; Mice ; Chromosome Structures ; Chromosome Deletion ; RNA, Messenger
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.
Autorzy:
Xu HH; Prenatal Diagnosis Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. .; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. .
Zhang Y; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
He ZH; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Di XH; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Pan FY; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Shi WW; Prenatal Diagnosis Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. .; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 May 22; Vol. 16 (1), pp. 111. Date of Electronic Publication: 2023 May 22.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Chromosome Aberrations*
Pregnancy ; Female ; Humans ; Pedigree ; Phenotype ; Chromosome Deletion ; Chromosomes ; Mitochondrial Precursor Protein Import Complex Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A CRISPR-engineered isogenic model of the 22q11.2 A-B syndromic deletion.
Autorzy:
Paranjape N; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Lin YT; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.; University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Flores-Ramirez Q; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Sarin V; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Johnson AB; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; San Francisco State University, San Francisco, CA, USA.
Chu J; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Paredes M; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA. .; Chan Zuckerberg Biohub-San Francisco, San Francisco, CA, USA. .
Wiita AP; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA. .; Chan Zuckerberg Biohub-San Francisco, San Francisco, CA, USA. .; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 May 11; Vol. 13 (1), pp. 7689. Date of Electronic Publication: 2023 May 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
DiGeorge Syndrome*/genetics
Animals ; Mice ; Humans ; Chromosome Structures ; Genetic Heterogeneity ; Neurons ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Autorzy:
Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Schwartzmann E; Medical Student Scientific Society, English Division, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Chmara Z; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Głukowska A; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Krysa T; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Majchrzycki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Olejnicki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Ostrowska P; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznań, Poland.
Babik J; Gynecology and Obstetrics with Pregnancy Pathology Unit, Franciszek Raszeja Municipal Hospital, 60-834 Poznań, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 05; Vol. 24 (9). Date of Electronic Publication: 2023 May 05.
Typ publikacji:
Journal Article; Review
MeSH Terms:
DiGeorge Syndrome*/genetics
Heart Defects, Congenital*/genetics
Humans ; Chromosome Deletion ; Molecular Biology ; Chromosomes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 2469

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