A common extension of Lindelöf, H-closed and ccc

Autor: Angelo Bella

The inequality | X | ≤ 2 χ ( X ) has been proved to be true for Lindelof spaces (Arhangel'skiĭ, 1969), H-closed spaces (Dow-Porter, 1982) and ccc spaces (Hajnal-Juhasz 1967), by quite different arguments. We present a common extension of all thes

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http://hdl.handle.net/20.500.11769/514489

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Autor: Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Brix N; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Public Health, Research Unit for Epidemiology, Aarhus University, Aarhus, Denmark., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Farholt S; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Rigshospitalet, Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen, Denmark., Rubak S; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Center for Paediatric Pulmonology and Allergology, Department of Child and Adolescent Health, AUH, Aarhus, Denmark., Bjerre J; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark., Piticchio SG; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Hellfritzsch MB; Department of Radiology, AUH, Aarhus, Denmark., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.

Publikováno v: Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 78-82. Date of Electronic Publication: 2024 Sep 06.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Autor: Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: anna.lindstrand@ki.se., Ek M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Carlsten J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Helgadóttir HT; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Hellström-Pigg M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Kuchinskaya E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Levin LÅ; Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden., Lieden A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Malmgren H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden., Svensson E; Department of Pediatric Neurology, Karolinska University Hospital, Huddinge, Sweden., Paucar M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Sahlin E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Tesi B; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Winberg J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Winerdal M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Johansson Soller M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2296-2307. Date of Electronic Publication: 2022 Sep 06.

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Autor: Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Zhang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China., Hallgrimsdottir S; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden., Zuo Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Li X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Liu S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Wang S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Yang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China., Ye Y; Department of Joint Surgery, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China., Wang L; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China., Yan Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Lin J; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Yu C; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Chen Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China., Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Wang H; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Zhao Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Qiu G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Departments of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Micule I; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Vienibas gatve 45, Riga, LV-1004, Latvia., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden., Sulander D; Department of Clinical Genetics and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Kuchinskaya E; Department of Clinical Genetics and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nilsson O; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; School of Medical Sciences, Örebro University and Department of Pediatrics, Örebro University Hospital, Örebro, Sweden., Zhang TJ; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. jgzhang_pumch@yahoo.com.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China. jgzhang_pumch@yahoo.com., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se., Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China. dr.wunan@pumch.cn.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. dr.wunan@pumch.cn.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dr.wunan@pumch.cn.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2022 Feb 15; Vol. 7 (1), pp. 11. Date of Electronic Publication: 2022 Feb 15.

A solution of the abstract Dirichlet problem for Baire-one functions

Autor: Jiří Spurný, Ondřej F. K. Kalenda

Publikováno v: Journal of Functional Analysis. 232(2):259-294

Let X be a compact convex subset of a locally convex space. We show that any bounded Baire-one function defined on ext X can be extended to an affine Baire-one function on X if and only if X is a Choquet simplex and ext X satisfies a certain topologi

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