Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Sofia Mizuho Miura Sugayama"'
Autor:
Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim
Publikováno v:
Clinics, Vol 73, Iss 0 (2018)
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level h
Externí odkaz:
https://doaj.org/article/4af4818321bd470e8e1042424cd170a0
Autor:
Sofia Mizuho Miura Sugayama, Cláudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, Thelma Suely Okay, Chong Ae Kim
Publikováno v:
Clinics, Vol 62, Iss 2, Pp 159-166 (2007)
OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METH
Externí odkaz:
https://doaj.org/article/8299168497b547c5b304b6f72b3e2017
Autor:
Sofia Mizuho Miura Sugayama, Regina Lúcia Moisés, Jaqueline Wagënfur, Nana Miura Ikari, Kikue Terada Abe, Cláudio Leone, Clóvis Artur Almeida da Silva, Maria de Lourdes Lopes Ferrari Chauffaille, Ae Kim Chong
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 81, Iss 5, Pp 468-473 (2003)
OBJECTIVE: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. METHODS: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with elec
Externí odkaz:
https://doaj.org/article/d76d65f49652407482966ae2651558ea
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
Autor:
Lilian Maria José Albano, Silvana Angelina Dório Nishioka, Regina Lucia Moysés, Jaqueline Wagenführ, Débora Bertola, Sofia Mizuho Miura Sugayama, A. Kim Chong
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 78, Iss 5, Pp 448-451 (2002)
OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleoti
Externí odkaz:
https://doaj.org/article/a2adb476531643f79b3f4187956990b5
Autor:
Gustavo Dib Dangoni, Anne Caroline Barbosa Teixeira, Talita Ferreira Aguiar, Sofia Mizuho Miura Sugayama, Vicente Odone Filho, Débora Romeo Bertola, Ana Cristina Victorino Krepischi
Publikováno v:
Pediatric Blood & Cancer. 70
Autor:
Antonio Carlos Pastorino, Alexandre T. Dias, Alexandre de Albuquerque Antunes, Leslie Domenici Kulikowski, Evelin Aline Zanardo, Mayra de Barros Dorna, Sofia Mizuho Miura Sugayama, Marlene Pereira Garanito, Vicente Odone-Filho, Gabriela de Toledo Passos Candelaria
Publikováno v:
Journal of Pediatric Genetics.
Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essent
Autor:
Sofia Mizuho Miura Sugayama, Chong Ae Kim, Larissa de Cássia Testai, José Ricardo Magliocco Ceroni, Débora Romeo Bertola, Guilherme L. Yamamoto, Diogo Cordeiro de Queiroz Soares, Luiz Antonio Nunes de Oliveira, Rachel Sayuri Honjo Kawahira
Publikováno v:
Clinics, Volume: 73, Article number: e324, Published: 02 JUL 2018
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Clinics; v. 73 (2018); e324
Clinics; Vol. 73 (2018); e324
Clinics
Clinics, Vol 73, Iss 0 (2018)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Clinics; v. 73 (2018); e324
Clinics; Vol. 73 (2018); e324
Clinics
Clinics, Vol 73, Iss 0 (2018)
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0fd184e58ae8cde3c551d2f888d5c8
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322018000100238&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322018000100238&lng=en&tlng=en
Autor:
Chong Ae Kim, Thelma Suely Okay, Claudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, Sofia Mizuho Miura Sugayama
Publikováno v:
Clinics; v. 62 n. 2 (2007); 159-166
Clinics; Vol. 62 Núm. 2 (2007); 159-166
Clinics; Vol. 62 No. 2 (2007); 159-166
Clinics
Universidade de São Paulo (USP)
instacron:USP
Clinics, Volume: 62, Issue: 2, Pages: 159-166, Published: 2007
Clinics; Vol. 62 Núm. 2 (2007); 159-166
Clinics; Vol. 62 No. 2 (2007); 159-166
Clinics
Universidade de São Paulo (USP)
instacron:USP
Clinics, Volume: 62, Issue: 2, Pages: 159-166, Published: 2007
OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METH
Autor:
Sofia Mizuho Miura Sugayama, Vera Hermina Kalika Koch, Érica Arai Furusawa, Cláudio Leone, Chong Ae Kim
Publikováno v:
Revista do Hospital das Clínicas, Vol 59, Iss 5, Pp 266-272 (2004)
PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tra
Publikováno v:
American Journal of Medical Genetics. 113:144-150
Two chromosome 3 short arm duplications identified through G-banding were further investigated using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) of microsatellite markers, aiming at mapping breakpoints and disclosing