المؤلفون: Vakkilainen S; Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. svetlana.vakkilainen@helsinki.fi.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland. svetlana.vakkilainen@helsinki.fi., Ahonen K; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Mäkitie O; Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

مؤلفون مشاركون: USIDNET study group, ESID study group, ESID

المصدر: Journal of clinical immunology [J Clin Immunol] 2024 Apr 27; Vol. 44 (5), pp. 115. Date of Electronic Publication: 2024 Apr 27.

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

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Osteochondrodysplasias*/*congenital , Hair*/*abnormalities, Osteochondrodysplasias*/mortality , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/diagnosis , Primary Immunodeficiency Diseases*/diagnosis , Primary Immunodeficiency Diseases*/mortality , Hirschsprung Disease*/mortality , Hirschsprung Disease*/genetics , Hirschsprung Disease*/diagnosis , RNA, Long Noncoding*, Humans ; Risk Factors ; Male ; Female ; Infant ; Child, Preschool ; Hypotrichosis/genetics ; Hypotrichosis/diagnosis ; Hypotrichosis/mortality ; Child

SCR Disease Name: Cartilage-hair hypoplasia

المؤلفون: Kavanagh K; Children's Health Ireland at Crumlin, Dublin, Ireland., Coleman J; Children's Health Ireland at Crumlin, Dublin, Ireland., O'Connell SM; Children's Health Ireland at Crumlin, Dublin, Ireland., Fhoghlú CN; Children's Health Ireland at Crumlin, Dublin, Ireland., Moore DP; Children's Health Ireland at Crumlin, Dublin, Ireland., Brenner C; Children's Health Ireland at Crumlin, Dublin, Ireland., Lynch SA; Children's Health Ireland at Crumlin, Dublin, Ireland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63603. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Case Reports; Journal Article

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: Hematopoietic Stem Cell Transplantation*/adverse effects , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/pathology , Lymphohistiocytosis, Hemophagocytic*/genetics , Lymphohistiocytosis, Hemophagocytic*/pathology , Lymphohistiocytosis, Hemophagocytic*/etiology, Humans ; Male ; Child, Preschool ; Growth Disorders/pathology ; Growth Disorders/etiology ; Growth Disorders/genetics

المؤلفون: Wang Y; Department of Respiratory and Critical Care Medicine, Emergency General Hospital, Beijing, 100028, China., Li X; Department of Respiratory and Critical Care Medicine, Emergency General Hospital, Beijing, 100028, China., Zhang J; Department of Respiratory and Critical Care Medicine, Emergency General Hospital, Beijing, 100028, China., Zhou Y; Department of Respiratory and Critical Care Medicine, Emergency General Hospital, Beijing, 100028, China.

المصدر: The Laryngoscope [Laryngoscope] 2024 Jul; Vol. 134 (7), pp. 3093-3095. Date of Electronic Publication: 2024 Jan 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

مواضيع طبية MeSH: Bronchoscopy*/methods , Tracheal Diseases*/surgery , Tracheal Diseases*/diagnosis , Osteochondrodysplasias*/surgery , Osteochondrodysplasias*/complications , Osteochondrodysplasias*/diagnosis, Humans ; Male ; Tracheal Stenosis/surgery ; Female ; Stents ; Middle Aged ; Curettage/methods ; Trachea/surgery

SCR Disease Name: Tracheobronchopathia osteoplastica

المؤلفون: Gomes ME; Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil. mariaeduarda.gomes@fiocruz.br., Kehdy F; Laboratório de Hanseníase da Fiocruz - Instituto Oswaldo Cruz (IOC) - FIOCRUZ, Rio de Janeiro, Brazil., de Neves-Manta FS; Laboratório de Hanseníase da Fiocruz - Instituto Oswaldo Cruz (IOC) - FIOCRUZ, Rio de Janeiro, Brazil., Horovitz DDG; Unidade de Genética Clínica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil., Sanseverino MT; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Leal GF; Serviço de Genética Médica, Instituto de Medicina Integral Prof. Fernando Figueira, Recife, Brazil., Felix TM; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Cavalcanti DP; Grupo de Displasias Esqueléticas, Genética Médica, Departamento de Medicina Translacional, FCM - UNICAMP, Campinas, Brazil., Llerena JC Jr; Unidade de Genética Clínica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil.; INAGEMP - Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.; Faculdade de Medicina Fundação Arthur Sá Earp Jr, Petrópolis, Brazil., Gonzalez S; Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil.

المصدر: Scientific reports [Sci Rep] 2024 Jun 11; Vol. 14 (1), pp. 13436. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Founder Effect* , Hirschsprung Disease*/genetics , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/congenital , Polymorphism, Single Nucleotide* , Hair*/abnormalities, Humans ; Brazil ; Male ; Female ; RNA, Long Noncoding/genetics ; Haplotypes ; Primary Immunodeficiency Diseases/genetics ; Hypotrichosis/genetics ; Chromosomes, Human, Pair 9/genetics ; Child

SCR Disease Name: Cartilage-hair hypoplasia

المؤلفون: Quan C; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Zhou S; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Zhang Y; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Kulyar MF; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Gong S; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Nawaz S; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China., Ahmed AE; Department of Biology, College of Science, King Khalid University, Abha 61413, Saudi Arabia., Mo Q; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China. Electronic address: moquan@webmail.hzau.edu.cn., Li J; College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, P.R. China. Electronic address: lijk210@mail.hzau.edu.cn.

المصدر: The Science of the total environment [Sci Total Environ] 2024 Jun 10; Vol. 928, pp. 172305. Date of Electronic Publication: 2024 Apr 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0330500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1026 (Electronic) Linking ISSN: 00489697 NLM ISO Abbreviation: Sci Total Environ Subsets: MEDLINE

مواضيع طبية MeSH: Thiram*/toxicity , Chickens* , TOR Serine-Threonine Kinases*/metabolism , Autophagy*/drug effects , Signal Transduction*/drug effects , Osteochondrodysplasias*/chemically induced , Osteochondrodysplasias*/veterinary , Poultry Diseases*/chemically induced, Animals ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tibia/drug effects ; Herbicides/toxicity

المؤلفون: Gilani N; Department of Biology, Gaziantep University, Gaziantep, Turkey.; Farabi Molecular Laboratory, Irbil, Iraq., Bitarafan F; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Ozaslan M; Department of Biology, Gaziantep University, Gaziantep, Turkey., Åsheim S; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2476.

نوع المنشور: Journal Article; Case Reports; Review

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

مواضيع طبية MeSH: Homozygote* , Lipodystrophy*/genetics , Lipodystrophy*/pathology , Membrane Glycoproteins*/genetics , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/pathology , Receptors, Immunologic*/genetics , Siblings* , Subacute Sclerosing Panencephalitis*/genetics , Subacute Sclerosing Panencephalitis*/pathology, Female ; Humans ; Consanguinity ; Pedigree

SCR Disease Name: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

المؤلفون: Ong SG; Rheumatology Unit, Department of Medicine, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Ding HJ; Rheumatology Unit, Department of Medicine, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Chan MY; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Loh WK; Department of Haematology, Ampang Hospital, Ampang Jaya, Malaysia., Mahmood MJ; Department of Radiology, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

المصدر: International journal of rheumatic diseases [Int J Rheum Dis] 2024 Jun; Vol. 27 (6), pp. e15220.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model: Print Cited Medium: Internet ISSN: 1756-185X (Electronic) Linking ISSN: 17561841 NLM ISO Abbreviation: Int J Rheum Dis Subsets: MEDLINE

مواضيع طبية MeSH: Osteochondrodysplasias*/complications , Osteochondrodysplasias*/diagnostic imaging , Osteochondrodysplasias*/diagnosis, Humans ; Congenital Bone Marrow Failure Syndromes/drug therapy ; Congenital Bone Marrow Failure Syndromes/complications ; Male ; Female ; Treatment Outcome ; Pancytopenia/etiology ; Pancytopenia/drug therapy ; Cytopenia ; Anemia, Refractory

SCR Disease Name: Ghosal Hematodiaphyseal Dysplasia

المؤلفون: Al Omari A; Department of Special Surgery, Jordan University of Science and Technology, Irbid, Jordan.; Department of Otolaryngology - Head and Neck Surgery, Drexel University College of Medicine, Philadelphia, PA, USA., Al-Qarqaz W; Department of Special Surgery, Jordan University of Science and Technology, Irbid, Jordan., Khresat M; Department of Special Surgery, Jordan University of Science and Technology, Irbid, Jordan., Sataloff RT; Department of Otolaryngology - Head and Neck Surgery, Drexel University College of Medicine, Philadelphia, PA, USA.

المصدر: Ear, nose, & throat journal [Ear Nose Throat J] 2024 Jun; Vol. 103 (1_suppl), pp. 98S-101S. Date of Electronic Publication: 2022 Mar 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: SAGE Publications Country of Publication: United States NLM ID: 7701817 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-7522 (Electronic) Linking ISSN: 01455613 NLM ISO Abbreviation: Ear Nose Throat J Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*/complications , Tracheal Diseases*/diagnostic imaging , Tracheal Diseases*/pathology , Osteochondrodysplasias*/complications , Osteochondrodysplasias*/pathology , Osteochondrodysplasias*/diagnostic imaging, Humans ; Male ; Middle Aged ; SARS-CoV-2 ; Tomography, X-Ray Computed ; Disease Progression

SCR Disease Name: Tracheobronchopathia osteoplastica

المؤلفون: Farshadyeganeh P; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan., Yamada T; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan., Nishimura G; Department of Radiology, Musashino Yowakai Hospital, Tokyo, Japan., Fujita H; Department of Orthopaedics, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan., Oishi Y; Department of Obstetrics, Asahikawa Medical University, Asahikawa, Japan., Nunode M; Department of Obstetrics, Osaka Medical and Pharmaceutical University, Takatsuki, Japan., Ishikawa S; Department of Neonatal Internal Medicine, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan., Murotsuki J; Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Sendai, Japan., Yamashita Y; Aging Biology in Health and Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan.; Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, Japan., Ikegawa S; Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan., Ogi T; Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan., Arikawa-Hirasawa E; Aging Biology in Health and Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan.; Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, Japan., Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan. ohnok@med.nagoya-u.ac.jp.

المصدر: Journal of human genetics [J Hum Genet] 2024 Jun; Vol. 69 (6), pp. 235-244. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Haplotypes* , Heparan Sulfate Proteoglycans*/genetics , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/pathology, Female ; Humans ; Male ; Alleles ; Bone Diseases, Developmental/genetics ; Bone Diseases, Developmental/pathology ; Founder Effect ; Mutation ; Fetal Diseases

المؤلفون: Alessandri JL; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France. Electronic address: jean-luc.alessandri@chu-reunion.fr., Celse T; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Spodenkiewicz M; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Calaya A; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Dumont C; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Jacquemont ML; Service de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Québec, Canada., Bertaut-Nativel B; Registre des Malformations Congénitales de La Réunion, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Boumahni B; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Rémy M; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Ferroul F; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Guilly S; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Huby T; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Irabé M; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Laurens T; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Munier P; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Morel G; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Payet F; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Randrianaivo H; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France; Registre des Malformations Congénitales de La Réunion, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Doray B; Service de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Dospeux J; Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Universitaire de La Réunion, La Réunion, France.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104940. Date of Electronic Publication: 2024 May 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Osteochondrodysplasias*/genetics , Osteochondrodysplasias*/pathology , Galactosyltransferases*/genetics , Galactosyltransferases*/metabolism, Humans ; Female ; Male ; Infant, Newborn ; Pregnancy

SCR Disease Name: Larsen Syndrome