Atypical presentations of RECQL4-related syndromes.

Autor: Grossman LD; Division of Hematology-Oncology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Baldino S; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zelley K; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Balis F; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bagatell R; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., MacFarland SP; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Dec; Vol. 71 (12), pp. e31315. Date of Electronic Publication: 2024 Sep 24.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Autor: 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.

Publikováno v: 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.

Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.

Autor: 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.

Publikováno v: 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.

Gender Differences in Soft Tissue and Bone Sarcoma: A Narrative Review.

Autor: Cosci, Ilaria¹ (AUTHOR) ilaria.cosci@iov.veneto.it, Del Fiore, Paolo² (AUTHOR) paolo.delfiore@iov.veneto.it, Mocellin, Simone^2,3 (AUTHOR), Ferlin, Alberto^4,5 (AUTHOR) alberto.ferlin@unipd.it

Publikováno v: Cancers. Jan2024, Vol. 16 Issue 1, p201. 17p.

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Autor: 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.

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