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Wyszukujesz frazę ""De Lange syndrome"" wg kryterium: Temat


Tytuł:
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Autorzy:
Tehrani Fateh S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Mohammad Zadeh N; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Salehpour S; Department of Pediatrics, Clinical Research Development Unit, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Omidi A; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Sadeghi H; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mirfakhraie R; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Moghimi P; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; School of Medicine, Islamic Azad University Tehran Medical sciences, Tehran, Iran.
Keyvanfar S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammadi Sarvaleh S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Miryounesi M; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .
Ghasemi MR; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 12; Vol. 17 (1), pp. 20. Date of Electronic Publication: 2024 Jan 12.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
De Lange Syndrome*/diagnosis
Humans ; Exome ; Mutation ; Phenotype ; DNA ; Biopsy
Czasopismo naukowe
Tytuł:
Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.
Autorzy:
Ng R; Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA. .; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .
O'Connor J; Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Summa D; Cornelia de Lange Syndrome Foundation, Avon, CT, USA.
Kline AD; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 10; Vol. 19 (1), pp. 111. Date of Electronic Publication: 2024 Mar 10.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
Child ; Adult ; Humans ; Young Adult ; Chromosomal Proteins, Non-Histone/genetics ; Phenotype ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Autorzy:
Seymour H; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Feben C; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Nevondwe P; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Kerr R; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Mudau M; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Honey E; Department of Biochemistry, Genetics, Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.
Lombard Z; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Krause A; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Carstens N; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Genomics Platform, South African Medical Research Council, Cape Town, South Africa.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2342.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
De Lange Syndrome*/pathology
Humans ; South Africa ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł:
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.
Autorzy:
Peng Y; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.
Zhu Y; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.
Wu L; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.
Deng F; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2318. Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
Male ; Humans ; Phenotype ; China
Czasopismo naukowe
Tytuł:
Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.
Autorzy:
Boulet F; Institut de Génomique Fonctionnelle, University of Montpellier, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, 34094 Montpellier, France.; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Odelin G; Aix Marseille University, INSERM, MMG, 13005 Marseille, France.
Harrington A; Institut de Génomique Fonctionnelle, University of Montpellier, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, 34094 Montpellier, France.
Moore-Morris T; Institut de Génomique Fonctionnelle, University of Montpellier, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, 34094 Montpellier, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 25; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 25.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
Heart Defects, Congenital*/genetics
Animals ; Humans ; Mice ; Aortic Valve ; Haploinsufficiency ; Mutation
Czasopismo naukowe
Tytuł:
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
Autorzy:
Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Largo Gemelli 8, 00168, Rome, Italy. .; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy. .
Santis R; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Leoni C; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Rigante M; Otorhinolaryngology Unit - Fondazione Policlinico, Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Piastra M; Pediatric Intensive Care Unit, Fondazione Policlinico Universitario Agostino Gemelli -IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.
Sforza E; Università Cattolica del Sacro Cuore, Rome, Italy.
Selicorni A; Pediatric Unit, ASST Lariana, Como, Italy.
Zampino G; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2023 Jul 16; Vol. 49 (1), pp. 85. Date of Electronic Publication: 2023 Jul 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
De Lange Syndrome*/complications
De Lange Syndrome*/diagnosis
De Lange Syndrome*/therapy
Intellectual Disability*
Nasal Polyps*/complications
Nasal Polyps*/diagnosis
Nasal Polyps*/therapy
Humans ; Follow-Up Studies ; Endoscopy
Czasopismo naukowe
Tytuł:
STAG2: Computational Analysis of Missense Variants Involved in Disease.
Autorzy:
Ros-Pardo D; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain.
Gómez-Puertas P; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain.
Marcos-Alcalde Í; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 20; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 20.
Typ publikacji:
Journal Article
MeSH Terms:
Cohesins*/genetics
Developmental Disabilities*/genetics
Humans ; CCCTC-Binding Factor/genetics ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; De Lange Syndrome/genetics ; DNA ; Mutation ; Mutation, Missense
Czasopismo naukowe
Tytuł:
Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.
Autorzy:
Umbach A; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Maule G; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Kheir E; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Cutarelli A; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Foglia M; Laboratory of Molecular Biology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
Guarrera L; Laboratory of Molecular Biology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
Fava LL; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Conti L; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy.
Garattini E; Laboratory of Molecular Biology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
Terao M; Laboratory of Molecular Biology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
Cereseto A; Department CIBIO, University of Trento, Via Sommarive 9, 38123, Povo, Italy. .
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Źródło:
Stem cell research & therapy [Stem Cell Res Ther] 2022 Sep 02; Vol. 13 (1), pp. 440. Date of Electronic Publication: 2022 Sep 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*/genetics
De Lange Syndrome*/therapy
Induced Pluripotent Stem Cells*/metabolism
CRISPR-Cas Systems/genetics ; Cell Cycle Proteins/genetics ; Clone Cells/metabolism ; Humans ; Mutation/genetics ; Phenotype ; Technology
Czasopismo naukowe
Tytuł:
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
Autorzy:
Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy. .
Allegri B; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
Cereda A; Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Michelini G; Child and Youth Lab, Department of Psychology, Sigmund Freud University, Milan, Italy.
Dall'Ara F; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
Mariani M; Department of Pediatrics, ASST Lariana, Como, Italy.
Rigamonti C; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
Selicorni A; Department of Pediatrics, ASST Lariana, Como, Italy.
Vizziello P; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
Costantino MA; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2022 Nov; Vol. 52 (11), pp. 4763-4773. Date of Electronic Publication: 2021 Nov 09.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
De Lange Syndrome*/diagnosis
Cell Cycle Proteins/genetics ; Genotype ; Humans ; Phenotype
Czasopismo naukowe
Tytuł:
Pathological Role of HDAC8: Cancer and Beyond.
Autorzy:
Kim JY; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Cho H; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Yoo J; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Kim GW; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Jeon YH; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Lee SW; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
Kwon SH; College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon 21983, Korea.
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Źródło:
Cells [Cells] 2022 Oct 09; Vol. 11 (19). Date of Electronic Publication: 2022 Oct 09.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*
Neoplasms*
Histone Deacetylases/metabolism ; Humans ; Protein Isoforms ; Repressor Proteins
Czasopismo naukowe
Tytuł:
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.
Autorzy:
Ellis K; School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK. .; School of Psychology, University of Surrey, Guildford, Surrey, GU26 7XH, UK. .
Moss J; School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.; School of Psychology, University of Surrey, Guildford, Surrey, GU26 7XH, UK.
Stefanidou C; School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.; Faculty of Health, Education, Medicine and Social Care, Anglia Ruskin University, Rivermead Campus, Bishop Hall Lane, Chelmsford, CM1 1SQ, UK.
Oliver C; School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
Apperly I; School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Nov 22; Vol. 16 (1), pp. 488. Date of Electronic Publication: 2021 Nov 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autistic Disorder*
De Lange Syndrome*/genetics
De Lange Syndrome*/psychology
Fragile X Syndrome*
Rubinstein-Taybi Syndrome*/genetics
Child ; Cognition ; Humans
Czasopismo naukowe
Tytuł:
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19 / IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Autorzy:
Pileggi S; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
La Vecchia M; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Colombo EA; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milano, Italy.
Colapietro P; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.
Rovina D; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Morotti A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Tabano S; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Porta G; Centro di Medicina Genomica, Department of Medicine and Surgery, Università degli Studi dell'Insubria, 21100 Varese, Italy.
Alcalay M; Department of Experimental Oncology, IEO European Institute of Oncology IRCCS, 20139 Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy.
Gervasini C; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Miozzo M; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milano, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
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Źródło:
Biomolecules [Biomolecules] 2021 Nov 02; Vol. 11 (11). Date of Electronic Publication: 2021 Nov 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*
Cell Cycle Proteins ; Cell Line ; Chromatin ; Chromosomal Proteins, Non-Histone ; Insulin-Like Growth Factor II ; Mutation ; Cohesins
Czasopismo naukowe
Tytuł:
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
Autorzy:
Pablo MJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain.
Pamplona P; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain.
Haddad M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain.
Benavente I; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain.
Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.
Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.
Trujillano L; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.
Bueno-Lozano G; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', Growth, Exercise, Nutrition and Development (GENUD) Research Group, Zaragoza, Spain.
Kerr LM; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Health, Salt Lake City, UT, USA.
Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands.
Kaiser FJ; Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany.
Ramos F; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.
Kline AD; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
Pie J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. .
Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 30; Vol. 16 (1), pp. 458. Date of Electronic Publication: 2021 Oct 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*/genetics
Autonomic Nervous System ; Cell Cycle Proteins/genetics ; Humans ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Tytuł:
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
Autorzy:
Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Ascaso Á; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Lucia-Campos C; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Antoñanzas R; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Ayerza-Casas A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.; Unit of Paediatric Cardiology, Service of Paediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain.
Gómez-Puertas P; Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain.
Ramos FJ; Unit of Clinical Genetics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, Department of Paediatrics, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, Zaragoza, Spain.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1826. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*/genetics
Cell Cycle Proteins/genetics ; Humans ; Phenotype ; Repressor Proteins/genetics
Raport
Tytuł:
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
Autorzy:
Mio C; Department of Medicine (DAME), University of Udine, Udine, Italy.
Passon N; Institute of Medical Genetics, Academic Hospital of Udine, Udine, Italy.
Fogolari F; Department of Mathematics, Computer Sciences and Physics (DMIF), University of Udine, Udine, Italy.
Cesario C; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Novelli A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Pittini C; Maternal and Child Health Department, Academic Hospital of Udine, Udine, Italy.
Damante G; Department of Medicine (DAME), University of Udine, Udine, Italy.; Institute of Medical Genetics, Academic Hospital of Udine, Udine, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Sep; Vol. 9 (9), pp. e1612. Date of Electronic Publication: 2021 Aug 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
De Lange Syndrome/*genetics
Histone Deacetylases/*genetics
Repressor Proteins/*genetics
Child, Preschool ; De Lange Syndrome/pathology ; Female ; Histone Deacetylases/chemistry ; Humans ; Protein Conformation ; Repressor Proteins/chemistry
Czasopismo naukowe
Tytuł:
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Autorzy:
Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Lucia-Campos C; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Trujillano L; Unit of Clinical Genetics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, Department of Paediatrics, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Marcos-Alcalde I; Molecular Modelling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28049, Madrid, Spain.; Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, 28223, Pozuelo de Alarcón, Madrid, Spain.
Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Ascaso Á; Unit of Clinical Genetics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, Department of Paediatrics, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Ayerza-Casas A; Unit of Paediatric Cardiology, Service of Paediatrics, Hospital Universitario Miguel Servet, 50009, Zaragoza, Spain.
Antoñanzas-Pérez R; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Gervasini C; Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
Piccione M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Mariani M; Centro Fondazione Mariani per il Bambino Fragile, Department of Pediatrics, ASST-Lariana Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.
Weber A; Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany.
Kanber D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Munteanu M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Khuller K; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Bueno-Lozano G; Unit of Clinical Genetics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, Department of Paediatrics, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain.
Gómez-Puertas P; Molecular Modelling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28049, Madrid, Spain.
Selicorni A; Centro Fondazione Mariani per il Bambino Fragile, Department of Pediatrics, ASST-Lariana Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.
Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsmedizin Essen, Universitätsklinikum Essen, Essen, Germany.
Ramos FJ; Unit of Clinical Genetics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, Department of Paediatrics, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain. .
Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009, Zaragoza, Spain. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jul 29; Vol. 11 (1), pp. 15459. Date of Electronic Publication: 2021 Jul 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins/*genetics
De Lange Syndrome/*blood
De Lange Syndrome/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; De Lange Syndrome/epidemiology ; Female ; Gene Deletion ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mosaicism ; Mutation, Missense ; Phenotype ; Retrospective Studies ; Spain/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł:
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.
Autorzy:
Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Clark B; Department of Medicine, University of Minnesota, Minneapolis, MN, USA.
Landy-Schmitt C; Myriad Women's Health, Salt Lake City, UT, USA.
Offermann EA; Kennedy Krieger Institute, Baltimore, MD, USA.
Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
Wilkinson ST; Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Grados MA; Department of Psychiatry, The Johns Hopkins Hospital, Bloomberg Children's Center, Johns Hopkins University School of Medicine, 12th Floor, 1800 Orleans Street, Baltimore, MD, 21287, USA. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 May; Vol. 51 (5), pp. 1748-1758.
Typ publikacji:
Journal Article
MeSH Terms:
Stereotyped Behavior*/physiology
De Lange Syndrome/*diagnosis
De Lange Syndrome/*psychology
Self-Injurious Behavior/*diagnosis
Self-Injurious Behavior/*psychology
Adolescent ; Child ; Child, Preschool ; Cohort Studies ; De Lange Syndrome/complications ; Female ; Humans ; Male ; Self-Injurious Behavior/complications
Czasopismo naukowe
Tytuł:
Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome.
Autorzy:
Pearson E; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.
Nielsen E; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Kita S; Department of Psychology, University of Warwick, Coventry, UK.
Groves L; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Nelson L; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.; Royal Derby Hospital, Derby, UK.
Moss J; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.; School of Psychology, University of Surrey, Surrey, UK.
Oliver C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Jun; Vol. 65 (6), pp. 601-607. Date of Electronic Publication: 2021 Mar 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*/genetics
Down Syndrome*
Intellectual Disability*
Gestures ; Humans ; Speech
Czasopismo naukowe
Tytuł:
PDS5A and PDS5B in Cohesin Function and Human Disease.
Autorzy:
Zhang N; Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030, USA.
Coutinho LE; Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030, USA.
Pati D; Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 May 30; Vol. 22 (11). Date of Electronic Publication: 2021 May 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
DNA Repair*
Cell Cycle Proteins/*genetics
DNA-Binding Proteins/*genetics
De Lange Syndrome/*genetics
Neoplasms/*genetics
Nuclear Proteins/*genetics
Saccharomyces cerevisiae Proteins/*genetics
Transcription Factors/*genetics
Animals ; Cell Cycle Proteins/chemistry ; Cell Cycle Proteins/metabolism ; Conserved Sequence ; DNA Damage ; DNA Replication ; DNA-Binding Proteins/chemistry ; DNA-Binding Proteins/metabolism ; De Lange Syndrome/metabolism ; De Lange Syndrome/pathology ; Gene Expression ; Humans ; Mice ; Mice, Knockout ; Models, Molecular ; Neoplasms/metabolism ; Neoplasms/pathology ; Nuclear Proteins/chemistry ; Nuclear Proteins/metabolism ; Protein Structure, Secondary ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/chemistry ; Saccharomyces cerevisiae Proteins/metabolism ; Sister Chromatid Exchange ; Transcription Factors/chemistry ; Transcription Factors/metabolism
Czasopismo naukowe
Tytuł:
A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.
Autorzy:
Fang H; Neurology Department, Hunan Children's Hospital, Changsha, China.
Zhang X; Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Xiao B; Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Zhang L; Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. .
Long H; Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jan; Vol. 42 (1), pp. 329-331. Date of Electronic Publication: 2020 Jul 10.
Typ publikacji:
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins*/genetics
Chromosomal Proteins, Non-Histone*/genetics
De Lange Syndrome*/complications
De Lange Syndrome*/genetics
Epilepsy*
Pharmaceutical Preparations*
China ; Humans ; Infant ; Mutation/genetics ; Phenotype
Raport

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