换一批
第一作者：
Lorenzo,Loberti
第一单位：
Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
作者：
Lorenzo,Loberti [1]
;
Loredaria,Adamo [2]
;
Enrica,Antolini [2]
;
Giulia,Casamassima [2]
;
Anne,Destrèe [3]
;
Nicola,Brunetti-Pierri [4]
;
David,Genevieve [5]
;
Philippe,Christophe [6]
;
Christine,Coubes [7]
;
Hilde,Van Esch [8]
;
Theresia,Herget [9]
;
Fanny,Kortüm [9]
;
Jasmin,Lisfeld [9]
;
Anna Charlotte,Möllring [9]
;
Martin,Zenker [10]
;
Jonathan,Levy [11]
;
Laurence,Perrin [11]
;
Anne-Claude,Tabet [11]
;
Anna,Maruani [12]
;
Arthur,Sorlin [13]
;
Daniel,Stieber [13]
;
Lucas,Herissant [13]
;
Karin,Dahan [13]
;
Lorenzo,Sinibaldi [14]
;
Rossella,Capolino [14]
;
Maria Lisa,Dentici [14]
;
Bruno,Dallapiccola [14]
;
Antonio,Novelli [14]
;
Livia,Garavelli [15]
;
Stefano Giuseppe,Caraffi [15]
;
Gianluca,Piatelli [16]
;
Irene,Valenzuela [17]
;
Maria Cristina,Digilio [14]
;
Roseline,Caumes [18]
;
Cordula,Knopp [19]
;
Karolina,Chwiałkowska [20]
;
Aleksandra,Jezela-Stanek [21]
;
Miroslaw,Kwasniewski [20]
;
Urszula,Korotko [20]
;
Ewelina,Gorzałczyńska [22]
;
Roberto,Canitano [23]
;
Salvatore,Grosso [24]
;
Elisa,Rahikkala [25]
;
Larissa,Mattern [19]
;
Miriam,Elbracht [19]
;
Orsetta,Zuffardi [26]
;
Valentina,Caputo [1]
;
Benedetta,Toschi [27]
;
Gea,Beunders [28]
;
Lisette,Leeuwen [28]
;
Mariet W,Elting [29]
;
Liselot,van der Laan [29]
;
Marjoleine F,Broekema [29]
;
Alexander J,Groffen [29]
;
Jiddeke M,van de Kamp [29]
;
Mieke M,van Haelst [29]
;
Marielle,Alders [29]
;
Salvatore Pietro,Mauro [30]
;
Francesca,De Razza [30]
;
Dora,Varvara [30]
;
Johanna,Kick [31]
;
Harald,Gaspar [31]
;
Dominique,Braun [31]
;
Eva,Lausberg [19]
;
Andrea,Maier [32]
;
Valentin,Ruault [33]
;
Rita,Genesio [34]
;
Marco,Tartaglia [35]
;
Rossella,Tita [36]
;
Mirella,Bruttini [1]
;
Ilaria,Longo [36]
;
Margherita,Baldassarri [1]
;
Maria Antonietta,Mencarelli [36]
;
Alessandra,Renieri [1]
;
Anna Maria,Pinto [37]
作者单位：
Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
[1]
Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
[2]
Institut de Pathologie et de Génétique, Gosselies, Belgium.
[3]
Department of Translational Medicine, University of Naples "Federico II", Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
[4]
Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France.
[5]
Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Dijon, France.
[6]
Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
[7]
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
[8]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[9]
Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
[10]
Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
[11]
Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France.
[12]
National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.
[13]
Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[14]
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
[15]
U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy.
[16]
Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.
[17]
Service de Génétique Clinique, CHU Lille, Lille, France.
[18]
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
[19]
IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.
[20]
IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
[21]
IMAGENE.ME SA, Bialystok, Poland.
[22]
Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy.
[23]
Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy.
[24]
Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland.
[25]
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[26]
Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy.
[27]
University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
[28]
Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
[29]
UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.
[30]
Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
[31]
Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.
[32]
Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.
[33]
Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.
[34]
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[35]
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
[36]
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.
[37]
医学主题词
人类(Humans);男(雄)性(Male);女(雌)性(Female);欧洲(Europe);转录因子(Transcription Factors);儿童(Child);多态性, 单核苷酸(Polymorphism, Single Nucleotide);儿童, 学龄前(Child, Preschool);发育障碍(Developmental Disabilities);队列研究(Cohort Studies);表型(Phenotype);遗传关联研究(Genetic Association Studies);青少年(Adolescent);细胞支架蛋白质类(Cytoskeletal Proteins);婴儿(Infant);突变(Mutation);综合征(Syndrome);基因型(Genotype)
DOI
10.1016/j.gim.2025.101375
PMID
39953909
发布时间
2025-06-24
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Genetics in medicine
Genetics in medicine
101375页
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