Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Honjo RS"" wg kryterium: Autor


Tytuł :
De novo pathogenic DHX30 variants in two cases.
Autorzy :
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Kim CA; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
Castro MAA; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
Honjo RS; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Pokaż więcej
Źródło :
Clinical genetics [Clin Genet] 2021 Jun 28. Date of Electronic Publication: 2021 Jun 28.
Typ publikacji :
Letter
Opinia redakcyjna
Tytuł :
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
Autorzy :
Pires LVL; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Bordim RA; Unidade de Cardiopatias Congênitas, Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Maciel MBR; Unidade de Cardiopatias Congênitas, Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Tanaka ACS; Unidade de Cardiopatias Congênitas, Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Yamamoto GL; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.; GeneOne, DASA, São Paulo, Brazil.
Honjo RS; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Kim CA; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Bertola DR; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun 03. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji :
Case Reports
Raport
Tytuł :
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Autorzy :
Honjo RS; Faculdade de Medicina, Unidade de Genética, Instituto da Criança, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.
Castro MAA; Faculdade de Medicina, Unidade de Genética, Instituto da Criança, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.
Ferraciolli SF; Faculdade de Medicina, Divisão de Neurorradiologia, Instituto de Radiologia, Hospital das Clinicas HCFMUSPUniversidade de São Paulo, São Paulo, Brazil.
Soares Junior LAV; Faculdade de Medicina, Divisão de Odontologia, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.
Pastorino AC; Faculdade de Medicina, Unidade de Imunologia, Instituto da Criança, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.
Bertola DR; Faculdade de Medicina, Unidade de Genética, Instituto da Criança, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.; Centro de Pesquisa sobre o Genoma Humano e Células Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kim CA; Faculdade de Medicina, Unidade de Genética, Instituto da Criança, Hospital das Clinicas HCFMUSP, Universidade de São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 May; Vol. 185 (5), pp. 1561-1568. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Autorzy :
Canton APM; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Montenegro LR; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Costa S; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Steunou V; University Sorbonne, INSERM, UMR_S 938, Saint-Antoine Research Center, Paris, France.
Sobrier ML; University Sorbonne, INSERM, UMR_S 938, Saint-Antoine Research Center, Paris, France.
Santana L; Genetic Endocrinology Unit, LIM25, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Honjo RS; Clinical Genetics Unit, Children's Institute, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Kim CA; Clinical Genetics Unit, Children's Institute, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
de Zegher F; Department of Development and Regeneration, University of Leuven, Leuven, Belgium.
Idkowiak J; Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
Gilligan LC; Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Arlt W; Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Funari MFA; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Jorge AAL; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.; Genetic Endocrinology Unit, LIM25, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Mendonca BB; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Netchine I; University Sorbonne, INSERM, UMR_S 938, Saint-Antoine Research Center, Paris, France.; AP-HP, Armand Trousseau Hospital, Endocrine Functional Exploration Service, Paris, France.
Brito VN; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Latronico AC; Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics, LIM42, Department of Endocrinology and Metabolism, Clinicas Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło :
Human reproduction (Oxford, England) [Hum Reprod] 2021 Jan 25; Vol. 36 (2), pp. 506-518.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Puberty, Precocious*/genetics
Adult ; Brazil ; Female ; Genetic Testing ; Humans ; Male ; Puberty ; RNA-Binding Proteins ; Retrospective Studies ; Ubiquitin-Protein Ligases
Czasopismo naukowe
Tytuł :
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Autorzy :
Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yamaguchi D; BITS Co., Ltd., Tokyo, Japan.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tsuchida N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan.
Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fukuda H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Lei M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sakamoto M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Koike T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Takahashi Y; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Tanda K; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
Hyodo Y; Department of Child Neurology, Okayama University Hospital, Okayama, Japan.
Honjo RS; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Bertola DR; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Kim CA; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Goto M; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
Okazaki T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
Yamada H; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
Maegaki Y; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
Ngu LH; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Siew CG; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Teik KW; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Akasaka M; Department of Pediatrics, Iwate Medical University School of Medicine, Morioka, Japan.
Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Goto T; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
Haniffa M; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Hiraishi N; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan.
Hiraki Y; Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
Ikemoto S; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
Daida A; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
Hamano SI; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
Miura M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.; Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan.
Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Kawano O; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.
Kondo A; Clinical Genetics Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Kagawa, Japan.
Matsumoto H; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Okanishi T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Oyoshi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Suzuki T; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan.
Ogawa Y; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan.
Handa H; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan.
Miyazono Y; Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2021 Jan; Vol. 42 (1), pp. 50-65. Date of Electronic Publication: 2020 Nov 11.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Autorzy :
Bertola DR; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Castro MAA; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Yamamoto GL; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Honjo RS; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Ceroni JR; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Buscarilli MM; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Freitas AB; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Malaquias AC; Unidade de Endocrinologia-Genetica, LIM 25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil.
Pereira AC; Laboratório de Genética e Cardiologia Molecular, Instituto do Coração, do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Jorge AAL; Unidade de Endocrinologia-Genetica, LIM 25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil.
Passos-Bueno MR; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Kim CA; Unidade de Genética, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Pokaż więcej
Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 896-911. Date of Electronic Publication: 2020 Oct 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.
Autorzy :
Solano M; Fundacion Cardioinfantil de Bogota, Colombia.
Fainboim A; Polivalent Day Hospital, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Politei J; Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Colombia.
Martins AM; Reference Center of Metabolic Inborn Errors, Universidade Federal de São Paulo, São Paulo, Brazil.
Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Koch FM; Pediatric Neurology, Puerto Montt Hospital, Chile.
Amartino H; Servicio de Neurología Infantil y Clinica de Mucopolisacaridosis y transtornos relacionados, Hospital Universitario Austral, Buenos Aires, Argentina.
Satizábal JM; Department of Physiological Sciences, School of Basic Sciences, Faculty of Health, Universidad del Valle, Cali, Colombia.
Horovitz DDG; Medical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira/Fiocruz, Rio de Janeiro, Brazil.
Medeiros PFV; Unidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Brazil.
Honjo RS; Genetics Unit, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil.
Pokaż więcej
Źródło :
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Feb 27; Vol. 23, pp. 100572. Date of Electronic Publication: 2020 Feb 27 (Print Publication: 2020).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Autorzy :
Honjo RS; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil. rachel.honjo@hc.fm.usp.br.
Vaca ECN; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
Leal GN; Setor de Ecocardiografia do SADT do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Abellan DM; Departamento de Pediatria - Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Ikari NM; Unidade de Cardiologia Pediátrica do Incor - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Jatene MB; Unidade Cirúrgica Infantil do Instituto do Coração - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Martins AM; Departamento de Pediatria - Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil.
Kim CA; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
Pokaż więcej
Źródło :
BMC medical genetics [BMC Med Genet] 2020 Feb 19; Vol. 21 (1), pp. 37. Date of Electronic Publication: 2020 Feb 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heart/*physiopathology
Heart Failure/*genetics
Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Ascites ; Brazil/epidemiology ; Disease Progression ; Heart/diagnostic imaging ; Heart Failure/diagnosis ; Heart Failure/diagnostic imaging ; Heart Failure/physiopathology ; Humans ; Infant ; Male ; Mucopolysaccharidosis VI/diagnostic imaging ; Mucopolysaccharidosis VI/physiopathology ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Autorzy :
Moosa S; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Yamamoto GL; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo, 05508-090, Brazil.
Garbes L; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Keupp K; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, University Hospital of Cologne, 50931 Cologne, Germany.
Beleza-Meireles A; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; Department of Clinical Genetics, St Michael's Hospital, University Hospitals Bristol, BS1 3NU, Bristol, UK.
Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, 13083-887, Brazil.
Valadares ER; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany.
de Sousa SB; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
Maia S; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
Saraiva J; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
Honjo RS; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil.
Kim CA; Instituto de Biociências da Universidade de São Paulo, São Paulo, 05508-090, Brazil.
Cabral de Menezes H; Unidade de Endocrinologia, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil.
Lausch E; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany.
Lorini PV; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany; Institute of Human Genetics, University Hospital Halle, Martin Luther University Halle-Wittenberg, 06112 Halle, Germany.
Lamounier A Jr; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil.
Carniero TCB; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil.
Giunta C; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
Rohrbach M; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
Janner M; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, CH-3010 Bern, Switzerland.
Semler O; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Department of Pediatrics, University Hospital Cologne, 50931 Cologne, Germany.
Beleggia F; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Clinic I of Internal Medicine, University Hospital Cologne, 50931 Cologne, Germany.
Li Y; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
Reintjes N; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, 13083-887, Brazil.
Zabel B; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany; Medical Faculty of the University of Magdeburg, 39120 Magdeburg, Germany.
Warman ML; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Bertola DR; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo, 05508-090, Brazil.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Cluster of Excellence, Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells (MBExC), University of Göttingen, 37073 Göttingen, Germany. Electronic address: .
Netzer C; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Oct 03; Vol. 105 (4), pp. 836-843. Date of Electronic Publication: 2019 Sep 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Molecular Chaperones/*genetics
Osteogenesis Imperfecta/*genetics
Animals ; Female ; Genes, Recessive ; HEK293 Cells ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Low Density Lipoprotein Receptor-Related Protein-6/metabolism ; Male ; Mice ; Pedigree ; Phenotype ; Wnt Signaling Pathway
Czasopismo naukowe
Tytuł :
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Autorzy :
Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ceroni JR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Kim VEH; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Furquim I; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Iwaki T; Department of Pediatrics, University Hospital, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Suzuki T; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeda S; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Itakura A; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Pokaż więcej
Źródło :
Journal of human genetics [J Hum Genet] 2019 Oct; Vol. 64 (10), pp. 967-978. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Journal Article
MeSH Terms :
Cell Cycle Proteins/*genetics
Co-Repressor Proteins/*genetics
DNA-Binding Proteins/*genetics
De Lange Syndrome/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Mediator Complex/*genetics
Chromosomal Proteins, Non-Histone/genetics ; DNA Copy Number Variations ; De Lange Syndrome/pathology ; E1A-Associated p300 Protein/genetics ; Family ; Female ; Genetic Association Studies ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Male ; Methyltransferases/genetics ; Mutation ; Myeloid-Lymphoid Leukemia Protein/genetics ; Polymorphism, Single Nucleotide ; Repressor Proteins/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Autorzy :
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Pastorino AC; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Ceroni J; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Lima PP; Patologia Ocular, Divisão de Anatomia Patologica, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
de Barros Dorna M; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Bertola D; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Pokaż więcej
Źródło :
Journal of human genetics [J Hum Genet] 2019 Sep; Vol. 64 (9), pp. 955-960. Date of Electronic Publication: 2019 Jun 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Homozygote*
Loss of Function Mutation*
Developmental Disabilities/*genetics
Intestinal Diseases/*genetics
Primary Immunodeficiency Diseases/*genetics
Receptor-Interacting Protein Serine-Threonine Kinases/*genetics
Signal Transduction/*genetics
Child ; Humans ; Male
Czasopismo naukowe
Tytuł :
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Autorzy :
Saida K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Kim CA; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Ceroni JRM; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Bertola DR; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Honjo RS; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
Pokaż więcej
Źródło :
Journal of human genetics [J Hum Genet] 2019 Sep; Vol. 64 (9), pp. 885-890. Date of Electronic Publication: 2019 Jul 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amino Acid Sequence*
Sequence Deletion*
Arterial Occlusive Diseases/*genetics
Bone and Bones/*abnormalities
Brachydactyly/*genetics
Cell Cycle Proteins/*genetics
Heart Defects, Congenital/*genetics
Hypertension/*genetics
Hypertension, Renovascular/*genetics
Intracranial Hemorrhages/*genetics
Stroke/*genetics
Syndactyly/*genetics
Transcription Factors/*genetics
Arterial Occlusive Diseases/pathology ; Arterial Occlusive Diseases/physiopathology ; Bone and Bones/pathology ; Bone and Bones/physiopathology ; Brachydactyly/pathology ; Brachydactyly/physiopathology ; Child ; Female ; Heart Defects, Congenital/pathology ; Heart Defects, Congenital/physiopathology ; Homozygote ; Humans ; Hypertension/pathology ; Hypertension/physiopathology ; Hypertension, Renovascular/pathology ; Hypertension, Renovascular/physiopathology ; Intracranial Hemorrhages/pathology ; Intracranial Hemorrhages/physiopathology ; Stroke/pathology ; Stroke/physiopathology ; Syndactyly/pathology ; Syndactyly/physiopathology
SCR Disease Name :
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Czasopismo naukowe
Tytuł :
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
Autorzy :
Ceroni JRM; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil. .
Spolador GM; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.
Bermeo DS; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.
Honjo RS; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.
de Oliveira LAN; Unidade de Radiologia, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.
Bertola DR; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.; Centro de Pesquisas sobre o Genoma Humano e Celulas-Tronco (CEGH-CEL), Instituto de Biociencias (IB), São Paulo, Brazil.
Kim CA; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.
Pokaż więcej
Źródło :
Skeletal radiology [Skeletal Radiol] 2019 Aug; Vol. 48 (8), pp. 1201-1207. Date of Electronic Publication: 2019 Feb 02.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Mucolipidoses/*diagnostic imaging
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mucolipidoses/metabolism ; Mucolipidoses/pathology ; Radiography ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Autorzy :
Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Bertola DR; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil. Electronic address: .
Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Saito A; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Segawa Y; Department of Orthopedic Surgery, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Yokota T; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Ishibashi S; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Nishida Y; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Yamamoto GL; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Franco JFDS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Honjo RS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Kim CA; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
Musso CM; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Timmons M; Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Taft RJ; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
Lajoie B; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
Knight MA; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Fischbeck KH; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Singleton AB; Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD 20892, USA.
Ferreira CR; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA, and Division of Genetics and Metabolism, Children's National Health System, Washington, DC 20010, USA.
Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, People's Republic of China.
Yan L; Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, People's Republic of China.
Garbern JY; Center of Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA.
Simsek-Kiper PO; Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey.
Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama 330-8777, Japan.
Robey PG; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA.
Boyde A; Biophysics, Oral Growth and Development, Dental Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Spranger J; Central German Competence Center for Rare Diseases (MKSE), Magdeburg 39120, Germany; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Schiffmann R; Baylor Scott & White Research Institute, Dallas, TX 75204, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nishimura G; Intractable Disease Center, Saitama University Hospital, Moro 350-0495, Japan.
Passos-Bueno MRDS; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
Simons C; Translational Bioinformatics Group, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC 3052, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
Ishikawa K; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 925-935. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Brain/*abnormalities
Leukoencephalopathies/*etiology
Osteochondrodysplasias/*etiology
Osteosclerosis/*etiology
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/*genetics
Adolescent ; Adult ; Alleles ; Animals ; Brain/metabolism ; Brain/pathology ; Child, Preschool ; Female ; Humans ; Leukoencephalopathies/pathology ; Male ; Mice ; Mice, Knockout ; Osteochondrodysplasias/pathology ; Osteosclerosis/pathology ; Phenotype ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/physiology ; Young Adult
SCR Disease Name :
Dysosteosclerosis; Hereditary Diffuse Leukoencephalopathy with Spheroids; Pyle disease
Czasopismo naukowe
Tytuł :
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Autorzy :
Malaquias AC; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil, .; Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brazil, .
Noronha RM; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.; Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brazil.
Souza TTO; Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brazil.
Homma TK; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, FMUSP, Sao Paulo, Brazil.
Funari MFA; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, FMUSP, Sao Paulo, Brazil.
Yamamoto GL; Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil.
Silva FV; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.
Moraes MB; Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil.
Honjo RS; Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil.
Kim CA; Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil.
Nesi-França S; Unidade de Endocrinologia Pediatrica, Departamento de Pediatria, Universidade Federal do Parana, Curitiba, Brazil.
Carvalho JAR; Unidade de Endocrinologia Pediatrica, Departamento de Pediatria, Universidade Federal do Parana, Curitiba, Brazil.
Quedas EPS; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.
Bertola DR; Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil.
Jorge AAL; Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, FMUSP, Sao Paulo, Brazil.
Pokaż więcej
Źródło :
Hormone research in paediatrics [Horm Res Paediatr] 2019; Vol. 91 (4), pp. 252-261. Date of Electronic Publication: 2019 May 27.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Mutation*
Noonan Syndrome*/drug therapy
Noonan Syndrome*/genetics
Noonan Syndrome*/physiopathology
Body Height/*drug effects
Human Growth Hormone/*administration & dosage
Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics
Adult ; Body Height/genetics ; Female ; Humans ; Longitudinal Studies ; Male ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.
Autorzy :
Gasparini Y
Montenegro MM
Novo-Filho GM
Ceroni JRM
Honjo RS
Zanardo ÉA
Dias AT
Nascimento AM
Costa TVMM
Madia FA
Chehimi SN
Damasceno JG
Kim CA
Kulikowski LD
Pokaż więcej
Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2019; Vol. 157 (3), pp. 153-157. Date of Electronic Publication: 2019 Apr 02.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 12/*genetics
Fibroblasts/*cytology
Trisomy/*diagnosis
Cell Line ; Child, Preschool ; Chromosome Banding ; Chromosome Disorders ; Female ; Fibroblasts/chemistry ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Mosaicism
Czasopismo naukowe
Tytuł :
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.
Autorzy :
Ceroni JRM; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil. .
Dutra RL; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Honjo RS; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.
Llerena JC Jr; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, RJ, Brazil.
Acosta AX; Universidade Federal da Bahia, Salvador, BA, Brazil.
Medeiros PFV; Universidade Federal de Campina Grande, Campina Grande, PB, Brazil.
Galera MF; Universidade Federal do Mato Grosso, Cuiabá, MT, Brazil.
Zanardo ÉA; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Piazzon FB; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Dias AT; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Novo-Filho GM; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Montenegro MM; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Madia FAR; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Bertola DR; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil., São Paulo, SP, Brazil.
de Melo JB; Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina, Universidade de Coimbra, Faculdade de Medicina, Universidade de Coimbra, CNC, IBILI - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
Kulikowski LD; Laboratorio de Citogenômica, Departamento de Patologia, Faculdade de Medicina da USP, FMUSP, São Paulo, SP, Brazil.
Kim CA; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da USP, HCFMUSP, São Paulo, SP, Brazil.
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2018 Sep 06; Vol. 8 (1), pp. 13382. Date of Electronic Publication: 2018 Sep 06.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Congenital Abnormalities/*genetics
Intellectual Disability/*genetics
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Female ; Gene Dosage ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome.
Autorzy :
Furusawa EA; Pediatric Nephrology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Esposito CSL; Pediatric Nephrology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Honjo RS; Genetics Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Suzuki L; Radiology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Leal GN; Radiology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Kim CA; Genetics Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Schvartsman BGS; Pediatric Nephrology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.
Pokaż więcej
Źródło :
Revista da Associacao Medica Brasileira (1992) [Rev Assoc Med Bras (1992)] 2018 Aug; Vol. 64 (8), pp. 723-728.
Typ publikacji :
Journal Article
MeSH Terms :
Hypertension/*etiology
Renal Artery Obstruction/*complications
Williams Syndrome/*complications
Adolescent ; Adult ; Brazil/epidemiology ; Child ; Child, Preschool ; Echocardiography, Doppler ; Female ; Humans ; Hypertension/diagnostic imaging ; Hypertension/epidemiology ; Incidence ; Infant ; Magnetic Resonance Angiography ; Male ; Prospective Studies ; Renal Artery Obstruction/diagnostic imaging ; Renal Artery Obstruction/epidemiology ; Ultrasonography, Doppler ; Williams Syndrome/diagnostic imaging ; Williams Syndrome/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Cognitive and behavioral profile of Williams Syndrome toddlers.
Autorzy :
Braga AC; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Carreiro LRR; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Tafla TL; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Ranalli NMG; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Silva MFCE; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Honjo RS; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo - USP - São Paulo (SP), Brasil.
Kim CA; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo - USP - São Paulo (SP), Brasil.
Teixeira MCTV; Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.
Pokaż więcej
Źródło :
CoDAS [Codas] 2018 Jul 19; Vol. 30 (4), pp. e20170188. Date of Electronic Publication: 2018 Jul 19.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptation, Psychological*
Language Development*
Social Behavior*
Williams Syndrome/*psychology
Child ; Child, Preschool ; Cognition Disorders/psychology ; Developmental Disabilities/psychology ; Female ; Humans ; Infant ; Intelligence Tests ; Language Tests ; Male ; Neuropsychological Tests ; Williams Syndrome/genetics
Czasopismo naukowe
Tytuł :
Cri du Chat syndrome: Characteristics of 73 Brazilian patients.
Autorzy :
Honjo RS; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Mello CB; Departamento de Psicobiologia, EPM/UNIFESP, Brazil.
Pimenta LSE
Nuñes-Vaca EC; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Benedetto LM; Departamento de Psicobiologia, EPM/UNIFESP, Brazil.
Khoury RBF; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Befi-Lopes DM; Departamento de Fisioterapia Fonoaudiologia e Terapia Ocupacional, FMUSP, Brazil.
Kim CA; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Pokaż więcej
Źródło :
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2018 Jun; Vol. 62 (6), pp. 467-473. Date of Electronic Publication: 2018 Feb 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Health Status*
Cognition Disorders/*complications
Cri-du-Chat Syndrome/*complications
Cri-du-Chat Syndrome/*physiopathology
Mental Disorders/*complications
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Cognition Disorders/physiopathology ; Comorbidity ; Female ; Humans ; Infant ; Male ; Mental Disorders/physiopathology ; Parents ; Phenotype ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies