المؤلفون: Zeng J; Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China., Li J; BGI-Shenzhen, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Liu Y; BGI-Shenzhen, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Liang R; BGI-Shenzhen, Shenzhen, China., Wang L; BGI-Shenzhen, Shenzhen, China., Zhou Q; BGI-Shenzhen, Shenzhen, China., Sun J; BGI-Shenzhen, Shenzhen, China., Liu Z; BGI-Shenzhen, Shenzhen, China., Wang WJ; BGI-Shenzhen, Shenzhen, China., Zhu S; Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2347. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/genetics , Rothmund-Thomson Syndrome*/pathology, Humans ; Mutation ; Frameshift Mutation ; Phenotype ; China

المؤلفون: Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address: luisasusan.averdunk@med.uni-duesseldorf.de., Huetzen MA; Max Planck Research Group Mechanisms of DNA Repair, Max Planck Institute for Biology of Ageing, Cologne, Germany; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne and Duesseldorf, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Moreno-Andrés D; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany., Kalb R; Institute for Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast, United Kingdom., Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Schouwink M; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Lalani S; Department of Molecular Genetics, Baylor College of Medicine, Houston, TX., Faqeih EA; Division of Medical Genetics, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Boor P; Institute of Pathology and Electron Microscopy Facility, Medical Faculty, RWTH Aachen University, Aachen, Germany., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hildebrandt B; Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany., Graf E; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany., Lu L; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Jin W; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Schaper J; Center of Rare Diseases, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Omer JA; Department of General Pediatrics, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Demaret T; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Fleischer N; FDNA Inc., Boston, MA., Schindler D; Institute for Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany., Krawitz P; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany., Wang LL; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Antonin W; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany., Jachimowicz RD; Max Planck Research Group Mechanisms of DNA Repair, Max Planck Institute for Biology of Ageing, Cologne, Germany; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne and Duesseldorf, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., von Felbert V; Department of Dermatology and Allergology, Medical Faculty, RWTH Aachen University, Aachen, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address: felix.distelmaier@med.uni-duesseldorf.de.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jul; Vol. 25 (7), pp. 100836. Date of Electronic Publication: 2023 Mar 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/genetics , Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/pathology, Humans ; Cellular Senescence/genetics ; DNA Damage ; Hydroxyurea/metabolism ; Fibroblasts ; Mutation ; Adaptor Proteins, Signal Transducing/metabolism

المؤلفون: Lorenzo C; Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal., Travessa AM; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.; Faculty of Medicine, Institute of Histology and Developmental Biology, University of Lisbon, Lisbon, Portugal., Ferreira AC; Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal., Modamio-Høybjør S; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain., Heath KE; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain., Pereira C; Pediatric Endocrinology Unit, Department of Pediatrics, Hospital de Santa Maria - Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 280-283. Date of Electronic Publication: 2022 Sep 26.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/pathology , Rothmund-Thomson Syndrome*/therapy , Osteosarcoma* , Puberty, Precocious*/genetics , Bone Neoplasms*, Female ; Humans ; Constriction, Pathologic ; RecQ Helicases/genetics ; Mutation

المؤلفون: Marmolejo Castañeda DH; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., Cruellas Lapeña M; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Carrasco López E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Aparicio Español G; Dermatology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Valverde Morales C; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., López-Fernández A; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pérez Ballesteros E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pardo Muñoz M; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Balmaña Gelpi J; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. jbalmana@vhio.net.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net.

المصدر: Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 99-102. Date of Electronic Publication: 2022 Jul 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/genetics , Bloom Syndrome*/diagnosis , Bloom Syndrome*/genetics, Male ; Humans ; Middle Aged ; RecQ Helicases/genetics

المؤلفون: Colombo EA; Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy., Valiante M; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy., Uggeri M; Department of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.; Department of Pharmacy, Section of Medicinal Chemistry, School of Medical and Pharmaceutical Sciences, University of Genoa, 16132 Genoa, Italy., Orro A; Department of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy., Majore S; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy., Gentilini D; Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy., Finelli P; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20133 Milan, Italy., Gervasini C; Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy., D'Ursi P; Department of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy., Larizza L; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 16; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Nuclear Pore Complex Proteins*/chemistry , Nuclear Pore Complex Proteins*/genetics , Rothmund-Thomson Syndrome*/genetics , Germ-Line Mutation*, Humans ; Siblings ; Male ; Female ; Protein Conformation

المؤلفون: Zhan, Genze, Li, Xin, Heng, Yong, Zhang, Yan, Wang, Jiaojiao, Zhao, Peiyao, Mu, Meitao, Zhu, Xueying, Wang, Mingzhong

المصدر: 2024 IEEE Conference on Artificial Intelligence (CAI) CAI Artificial Intelligence (CAI), 2024 IEEE Conference on. :644-649 Jun, 2024

Relation: 2024 IEEE Conference on Artificial Intelligence (CAI)

المؤلفون: Martin-Giacalone BA; Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States., Rideau TT; Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States., Scheurer ME; Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States., Lupo PJ; Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States., Wang LL; Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States. Electronic address: llwang@bcm.edu.

المصدر: Cancer genetics [Cancer Genet] 2022 Apr; Vol. 262-263, pp. 107-110. Date of Electronic Publication: 2022 Feb 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Bone Neoplasms*/genetics , Osteosarcoma*/genetics , RecQ Helicases*/genetics , Rothmund-Thomson Syndrome*/epidemiology , Rothmund-Thomson Syndrome*/genetics , Rothmund-Thomson Syndrome*/pathology, Heterozygote ; Humans ; Mutation

عنوان ترانسليتريتد: Síndrome de Rothmund-Thomson: serie de casos de un hospital pediátrico de tercer nivel en México.

المؤلفون: Sánchez-Padilla AP; Servicio de Dermatología Pediátrica, Hospital Infantil de México Federico Gó mez., Valencia-Herrera AM; Servicio de Dermatología Pediátrica, Hospital Infantil de México Federico Gó mez., Toledo-Bahena ME; Servicio de Dermatología Pediátrica, Hospital Infantil de México Federico Gó mez., Mena-Cedillos CA; Servicio de Dermatología Pediátrica, Hospital Infantil de México Federico Gó mez., Toussaint-Caire S; Departamento de Dermatopatología, Hospital General Dr. Manuel Gea González. Mexico City, Mexico.

المصدر: Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 2022; Vol. 79 (1), pp. 56-61.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Permanyer Country of Publication: Mexico NLM ID: 0414106 Publication Model: Print Cited Medium: Internet ISSN: 1665-1146 (Electronic) Linking ISSN: 05396115 NLM ISO Abbreviation: Bol Med Hosp Infant Mex Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/genetics , Rothmund-Thomson Syndrome*/pathology, Adult ; Child ; Child, Preschool ; Female ; Hospitals, Pediatric ; Humans ; Male ; Mexico ; Mutation

المؤلفون: Kaneko H; Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan., Takemoto M; Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, International University of Health and Welfare, Chiba, Japan., Murakami H; Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan., Ihara K; Department of Pediatrics, Faculty of Medicine, Oita University, Oita, Japan., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Motegi SI; Department of Dermatology, Gunma University Graduate School of Medicine, Gunma, Japan., Taniguchi A; Department of Orthopaedic Surgery, Nara Medical University, Nara, Japan., Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Yamazaki N; Department of Dermatologic Oncology, National Cancer Center Hospital, Tokyo, Japan., Nishigori C; Division of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan., Takita J; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Koshizaka M; Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan., Maezawa Y; Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan., Yokote K; Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2022 Jan; Vol. 64 (1), pp. e15120.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/epidemiology , Rothmund-Thomson Syndrome*/genetics, Humans ; Japan/epidemiology ; Mutation ; Quality of Life ; Surveys and Questionnaires

المؤلفون: Hussain M; Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India., Mohammed A; Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India., Saifi S; Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India., Priya S; Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India., Sengupta S; Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India; National Institute of Biomedical Genomics, Kalyani, India. Electronic address: ssg2@nibmg.ac.in.

المصدر: The Journal of biological chemistry [J Biol Chem] 2023 Sep; Vol. 299 (9), pp. 105087. Date of Electronic Publication: 2023 Jul 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondria*/metabolism , Mitophagy*/genetics , RecQ Helicases*/genetics , RecQ Helicases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Ubiquitin-Protein Ligases*/metabolism, Humans ; DNA, Mitochondrial/genetics ; Mutation ; Rothmund-Thomson Syndrome/genetics ; Ubiquitination ; DNA Replication/genetics