Chong Ae Kim

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências da Saúde
Área de atuação: Medicina

Publicações

Total: 988

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Carla Gentile MATAS		Ciências da Saúde	Fonoaudiologia
Carlos Augusto Galvão BARBOZA		Ciências Biológicas	Morfologia
Celia Priszkulnik KOIFFMANN		Ciências Biológicas	Genética
Claudia Berlim De MELLO		Ciências Humanas	Psicologia
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Débora Gusmão MELO		Ciências da Saúde	Medicina
Débora Maria Befi LOPES	Membro	Ciências da Saúde	Fonoaudiologia
Decio BRUNONI		Ciências Biológicas	Genética
Erasmo Barbante CASELLA		Ciências da Saúde	Medicina
Fernanda Tebexreni ORSATI		Ciências Humanas	Psicologia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luiz Renato Rodrigues CARREIRO		Ciências Humanas	Psicologia
Márcia Helena Da Silva MELO		Ciências Humanas	Psicologia
Milena Coelho Fernandes CALDATO		Ciências da Saúde	Medicina
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Paulo Sérgio BOGGIO	Membro	Ciências Biológicas	Fisiologia
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 17

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1983	1984	1985	1986	1987	1988	1989	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
1311 · Genetics	0	1	0	1	2	0	0	0	6	1	1	4	2	9	2	4	17	6	4	4	2	6	13	11	8	7	5	6	12	8	11	10	7	11	10	3	5	2	4	8	1	1	7	1
2716 · Genetics (clinical)	1	0	0	0	0	0	1	2	2	0	0	1	1	7	5	3	11	10	9	11	9	15	12	2	3	3	6	11	0	8	3	5	5	7	8	3	7	4	5	8	10	10	4	2
2701 · Medicine (miscellaneous)	2	1	1	0	1	1	0	2	2	5	5	6	0	1	4	5	4	6	7	7	7	2	0	4	10	5	5	7	1	5	6	3	2	5	6	4	6	0	2	5	0	0	0	0
2735 · Pediatrics; Perinatology and Child Health	1	0	1	2	0	0	0	2	0	2	3	6	3	2	1	3	2	2	2	5	1	2	2	0	3	1	1	2	0	1	1	1	2	1	2	1	0	0	1	2	3	1	0	1
3201 · Psychology (miscellaneous)	0	1	0	0	0	0	0	0	1	3	3	5	4	2	5	1	1	0	0	2	1	1	1	0	0	1	1	2	1	1	2	1	0	0	0	2	2	0	0	4	0	0	0	0
2728 · Neurology (clinical)	1	0	0	0	1	1	0	0	0	0	1	2	3	1	1	0	1	2	0	3	2	1	3	3	0	1	1	0	0	3	1	1	1	3	2	0	3	1	1	1	2	0	0	0
2808 · Neurology	0	0	0	0	0	0	0	1	1	0	0	1	2	1	2	1	2	5	5	1	0	2	0	1	1	0	4	1	2	3	0	0	0	0	2	4	0	0	2	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	0	0	0	1	0	0	0	0	2	0	0	1	1	1	0	1	3	0	0	1	0	1	1	1	1	0	1	0	5	1	0	3	2	1	0	1	0	0	0	0	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	1	0	0	0	0	1	0	2	0	2	2	1	1	0	0	0	3	0	1	0	0	1	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	1	0	1	1	0	0	0	1	1	0	0	0	0	0	1	0	1	0	0	1
2710 · Embryology	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	1	2	1	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	2	0	0	0	0	0	0	0	0	0	1	0	0	3	1	0	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	4	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	2	1	0	0	0	1	1	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	1	1	0	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	2	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0
3304 · Education	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	1	0	0	0	0	0	2	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
1308 · Clinical Biochemistry	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
1203 · Language and Linguistics	1	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
3616 · Speech and Hearing	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
1702 · Artificial Intelligence	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0
2723 · Immunology and Allergy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2204 · Biomedical Engineering	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2708 · Dermatology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0
2715 · Gastroenterology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2731 · Ophthalmology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2732 · Orthopedics and Sports Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3310 · Linguistics and Language	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1302 · Aging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1303 · Biochemistry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1310 · Endocrinology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1313 · Molecular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
1314 · Physiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1402 · Accounting	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2301 · Environmental Science (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2401 · Immunology and Microbiology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2405 · Parasitology	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2702 · Anatomy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2704 · Biochemistry (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2720 · Hematology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2722 · Histology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2727 · Nephrology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2730 · Oncology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2733 · Otorhinolaryngology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2739 · Public Health; Environmental and Occupational Health	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2746 · Surgery	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2803 · Biological Psychiatry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2806 · Developmental Neuroscience	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2809 · Sensory Systems	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2919 · Pediatrics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
3001 · Pharmacology; Toxicology and Pharmaceutics (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
3203 · Clinical Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3204 · Developmental and Educational Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0
3206 · Neuropsychology and Physiological Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3300 · General Social Sciences	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0
3607 · Medical Laboratory Technology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2016	Trabalho em evento	Expanding the genotyping spectrum of Mucolipidosis II and III alpha/beta in Brazil I SCHWARTZ; F Sperb LUDWIG; R VOLTOLININI; A ACOSTA; E RIBEIRO et al 14th International Symposium on MPS and related diseases ISBN 23264098	LS Genetics
2016	Trabalho em evento	Enzyme Replacement Therapy (ERT) in 27 Brazilian Patients with Mucopolysaccharidosis (MPS) types I;II and VI J F S FRANCO; D C Q SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al 14th International Synposium on MPS and Related Diseases ISBN 23264098	HS Genetics (clinical)
2016	Trabalho em evento	Hematopoietic Stem Cell Tranplantation for MPS I: Experience of Three Brazilian Centers C De SOUZA; A De BOER; F VAIRO; D HOROVITZ; Chong Ae KIM et al 14th International Symposium on MPS and Realted Diseases ISBN 23264098	HS Infectious Diseases
2016	Trabalho em evento	Surgical procedures and anesthetic complications in 27 Brazilian patients wth Mucoplolysaccharidosis (MPS) types I; II and VI. Chong Ae KIM; D C SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al American Society of Human Genetics 66th Annua Meeting	HS Surgery
2016	Trabalho em evento	Clinical features of 28 patients with presumptive diagnosis of PIK3CA related overgrowth spectrum (PROS) in a tertiary hospital in Brazil C H CHUNG; R S HONJO; D R BERTOLA; Chong Ae KIM American Society of Human Genetics 66th Annual Meeting	HS Genetics (clinical)
2016	Trabalho em evento	CHIME syndrome with PIGL mutations: Description of a Brazilian case. R S HONJO; J R M CERONI; M R Passos BUENO; G L YAMAMOTO; Chong Ae KIM American Society of Human Genetics 66th Annual Meeting	HS Genetics (clinical)
2016	Artigo em periódico	Clinical description of 41 Brazilian patientswith oculo-auriculo-vertebral dysplasia José Roberto Mendes PEGLER; Diogo Cordeiro De Queiroz SOARES; Caio Robledo Costa QUAIO; Natalia FERNANDES; Luiz Antonio Nunes De OLIVEIRA et al Revista da Associação Médica Brasileira DOI 10.1590/1806-9282.62.03.202 ISSN 0104-4230	HS Medicine (miscellaneous)
2016	Artigo em periódico	Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings José Francisco S FRANCO; Diogo C Q SOARES; Leuridan C TORRES; Gabriela N LEAL; M T CUNHA et al Genetics and Molecular Research DOI 10.4238/gmr.15017850 ISSN 1676-5680	LS Genetics
2016	Artigo em periódico	Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype Colovati Mileny E S; Bragagnolo SILVIA; Guilherme Roberta S; Dantas Anelisa G; Soares Maria F et al CYTOGENETIC AND GENOME RESEARCH DOI 10.1159/000444228 ISSN 1424-8581	LS Genetics
2016	Artigo em periódico	CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis Matta Marina CADENA; Soares Diogo CORDEIRO; Kerstenetzky Marcelo SOARES; Freitas Augustus Cesar PINTO; Chong Ae KIM et al Human Immunology DOI 10.1016/j.humimm.2015.11.018 ISSN 0198-8859	HS Genetics (clinical)
2016	Artigo em periódico	Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia Wade Emma M; Daniel Philip B; Jenkins Zandra A; Mcinerney Leo AIDEEN; Leo PAUL et al American Journal of Human Genetics DOI 10.1016/j.ajhg.2016.05.024 ISSN 0002-9297	HS Genetics (clinical)
2016	Artigo em periódico	Post-mortem cytogenomic investigations in patients with congenital malformations Dias Alexandre TORCHIO; Zanardo Évelin ALINE; Dutra Roberta LELIS; Piazzon Flavia BALBO; Novo Filho Gil MONTEIRO et al Experimental and Molecular Pathology (Print) DOI 10.1016/j.yexmp.2016.07.003 ISSN 0014-4800	HS Neurology (clinical)
2016	Artigo em periódico	Nutritional aspects of Noonan syndrome and Noonan-related disorders Da Silva Fernanda MARCHETTO; Jorge Alexander AUGUSTO; Malaquias ALEXANDRA; Da Costa Pereira ALEXANDRE; Yamamoto Guilherme LOPES et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.37639 ISSN 1552-4825	HS Medicine (miscellaneous)
2016	Artigo em periódico	Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region Araujo Thaís FENZ; Ribeiro Erlane MARQUES; Arruda Anderson PONTES; Moreno Carolina ARAUJO; De Medeiros Paula Frassinetti VASCONCELOS et al European Journal of Medical Research DOI 10.1186/s40001-016-0228-7 ISSN 2047-783X	LS Genetics
2016	Artigo em periódico	Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency Bonamichi Beatriz D S F; Santiago Stella L M; Bertola Débora R; Chong Ae KIM; Alonso NIVALDO et al Archives of Endocrinology and Metabolism DOI 10.1590/2359-3997000000213 ISSN 2359-4292	HS Medicine (miscellaneous)
2016	Artigo em periódico	Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort K HA; P ANAND; J A LEE; J R JONES; Chong Ae KIM et al Genes ISSN 2073-4425	LS Genetics
2016	Artigo em periódico	Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability Novo Filho Gil M; Montenegro Marília M; Zanardo Évelin A; Dutra Roberta L; Dias Alexandre T et al Cytogenetic and Genome Research (Online) DOI 10.1159/000448905 ISSN 1424-859X	HS Pediatrics; Perinatology and Child Health
2016	Artigo em periódico	Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome Asammour Z M; De Bessa J; M HISANO; H BRUSCHINI; Chong Ae KIM et al Journal of Pediatric Urology DOI 10.1016/j.jpurol.2016.10.003 ISSN 1477-5131	HS Neurology (clinical)
2015	Trabalho em evento	Transcriptome analysis by RNAseq in Bloom's syndrome reveals genes associated to regulation of immune pathways Montenegro Marilia M; Novo Filho Gil MONTEIRO; Alexandre Torchio DIAS; Zanardo Évelin ALINE; Dutra Roberta L et al The European Human Genetics Conference	LS Molecular Biology
2015	Trabalho em evento	Evaluation of gene expression and cytogenomic study in patients with 22q11.2 deletion Anelisa G DANTAS; D MAZZUTTI; A BORTOLAI; Mileny COLOVATI; Roberta S GUILHERME et al 10th European Cytogenetics Conference 2015	LS Genetics
2015	Trabalho em evento	Cytogenomic investigation in patients with Oculocuriculovertebral Spectrum (OAVS) and candidate loci relevant to phenotype Milleny E S COLOVAN; Silvia BRAGAGNOLO; Roberta S GUILHERME; Anelisa G DANTAS; Maria De Fatima SOARES et al 10th European Cytogenetics Conference 2015	LS Genetics
2015	Trabalho em evento	Phenotypic Spectrum in Richieri-Costa-pereira syndrome D R BERTOLA; Lucas ALVIZI; Gabriella HSIA; Renata Di FRANCESCO; Larissa ATHAYDE et al 12th ISDS Meeting Istanbul 2015	LS Genetics
2015	Trabalho em evento	Case Report: A 2 yo Brazilian girl with an usual form of rhizomelic chondrodysplasia punctata Wagner Antonio Da Rosa BARATELA; Guilherme L YAMAMOTO; Luiz OLIVEIRA; Rachel S HONJO; Chong Ae KIM et al 12th International Skeletal Dysplasia Society Meeting (ISDS) 2015	HS Pediatrics; Perinatology and Child Health
2015	Trabalho em evento	Compound heterozygote with mosaic variant: Brodening the phenotypic spectrum of ciliopathies associated with DYN2H1 G L YAMAMOTO; Larissa TESTAI; Christine H CHUNG; Wagner A R BARATELA; R HONJO et al 12th International Skeletal Dysplasia Society Meeting-2015	LS Genetics
2015	Trabalho em evento	Early enzyme replacement therapy in Mucopolysaccharidosis VI: Results pf a long term follow-up of Brazilian sibilings Chong Ae KIM; J FRANCO; Leuridan TORRES; R HONJO; Bertola Debora R et al 12th International Skeletal Dysplasia Society Meeting -2015	HS Medicine (miscellaneous)

2016 Trabalho em evento

LS Genetics

Expanding the genotyping spectrum of Mucolipidosis II and III alpha/beta in Brazil

14th International Symposium on MPS and related diseases

I SCHWARTZ; F Sperb LUDWIG; R VOLTOLININI; A ACOSTA; E RIBEIRO et al

ISBN 23264098

2016 Trabalho em evento

HS Genetics (clinical)

Enzyme Replacement Therapy (ERT) in 27 Brazilian Patients with Mucopolysaccharidosis (MPS) types I;II and VI

14th International Synposium on MPS and Related Diseases

J F S FRANCO; D C Q SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al

ISBN 23264098

2016 Trabalho em evento

HS Infectious Diseases

Hematopoietic Stem Cell Tranplantation for MPS I: Experience of Three Brazilian Centers

14th International Symposium on MPS and Realted Diseases

C De SOUZA; A De BOER; F VAIRO; D HOROVITZ; Chong Ae KIM et al

ISBN 23264098

2016 Trabalho em evento

HS Surgery

Surgical procedures and anesthetic complications in 27 Brazilian patients wth Mucoplolysaccharidosis (MPS) types I; II and VI.

American Society of Human Genetics 66th Annua Meeting

Chong Ae KIM; D C SOARES; L M J ALBANO; R S HONJO; D R BERTOLA et al

2016 Trabalho em evento

HS Genetics (clinical)

Clinical features of 28 patients with presumptive diagnosis of PIK3CA related overgrowth spectrum (PROS) in a tertiary hospital in Brazil

American Society of Human Genetics 66th Annual Meeting

C H CHUNG; R S HONJO; D R BERTOLA; Chong Ae KIM

2016 Trabalho em evento

HS Genetics (clinical)

CHIME syndrome with PIGL mutations: Description of a Brazilian case.

American Society of Human Genetics 66th Annual Meeting

R S HONJO; J R M CERONI; M R Passos BUENO; G L YAMAMOTO; Chong Ae KIM

2016 Artigo em periódico

HS Medicine (miscellaneous)

Clinical description of 41 Brazilian patientswith oculo-auriculo-vertebral dysplasia

Revista da Associação Médica Brasileira

José Roberto Mendes PEGLER; Diogo Cordeiro De Queiroz SOARES; Caio Robledo Costa QUAIO; Natalia FERNANDES; Luiz Antonio Nunes De OLIVEIRA et al

DOI ISSN 0104-4230

2016 Artigo em periódico

LS Genetics

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Genetics and Molecular Research

José Francisco S FRANCO; Diogo C Q SOARES; Leuridan C TORRES; Gabriela N LEAL; M T CUNHA et al

DOI ISSN 1676-5680

2016 Artigo em periódico

LS Genetics

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

CYTOGENETIC AND GENOME RESEARCH

Colovati Mileny E S; Bragagnolo SILVIA; Guilherme Roberta S; Dantas Anelisa G; Soares Maria F et al

DOI ISSN 1424-8581

2016 Artigo em periódico

HS Genetics (clinical)

CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis

Human Immunology

Matta Marina CADENA; Soares Diogo CORDEIRO; Kerstenetzky Marcelo SOARES; Freitas Augustus Cesar PINTO; Chong Ae KIM et al

DOI ISSN 0198-8859

2016 Artigo em periódico

HS Genetics (clinical)

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

American Journal of Human Genetics

Wade Emma M; Daniel Philip B; Jenkins Zandra A; Mcinerney Leo AIDEEN; Leo PAUL et al

DOI ISSN 0002-9297

2016 Artigo em periódico

HS Neurology (clinical)

Post-mortem cytogenomic investigations in patients with congenital malformations

Experimental and Molecular Pathology (Print)

Dias Alexandre TORCHIO; Zanardo Évelin ALINE; Dutra Roberta LELIS; Piazzon Flavia BALBO; Novo Filho Gil MONTEIRO et al

DOI ISSN 0014-4800

2016 Artigo em periódico

HS Medicine (miscellaneous)

Nutritional aspects of Noonan syndrome and Noonan-related disorders

American Journal of Medical Genetics. Part A

Da Silva Fernanda MARCHETTO; Jorge Alexander AUGUSTO; Malaquias ALEXANDRA; Da Costa Pereira ALEXANDRE; Yamamoto Guilherme LOPES et al

DOI ISSN 1552-4825

2016 Artigo em periódico

LS Genetics

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

European Journal of Medical Research

Araujo Thaís FENZ; Ribeiro Erlane MARQUES; Arruda Anderson PONTES; Moreno Carolina ARAUJO; De Medeiros Paula Frassinetti VASCONCELOS et al

DOI ISSN 2047-783X

2016 Artigo em periódico

HS Medicine (miscellaneous)

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Archives of Endocrinology and Metabolism

Bonamichi Beatriz D S F; Santiago Stella L M; Bertola Débora R; Chong Ae KIM; Alonso NIVALDO et al

DOI ISSN 2359-4292

2016 Artigo em periódico

LS Genetics

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Genes

K HA; P ANAND; J A LEE; J R JONES; Chong Ae KIM et al

ISSN 2073-4425

2016 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

Cytogenetic and Genome Research (Online)

Novo Filho Gil M; Montenegro Marília M; Zanardo Évelin A; Dutra Roberta L; Dias Alexandre T et al

DOI ISSN 1424-859X

2016 Artigo em periódico

HS Neurology (clinical)

Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome

Journal of Pediatric Urology

Asammour Z M; De Bessa J; M HISANO; H BRUSCHINI; Chong Ae KIM et al

DOI ISSN 1477-5131

2015 Trabalho em evento

LS Molecular Biology

Transcriptome analysis by RNAseq in Bloom's syndrome reveals genes associated to regulation of immune pathways

The European Human Genetics Conference

Montenegro Marilia M; Novo Filho Gil MONTEIRO; Alexandre Torchio DIAS; Zanardo Évelin ALINE; Dutra Roberta L et al

2015 Trabalho em evento

LS Genetics

Evaluation of gene expression and cytogenomic study in patients with 22q11.2 deletion

10th European Cytogenetics Conference 2015

Anelisa G DANTAS; D MAZZUTTI; A BORTOLAI; Mileny COLOVATI; Roberta S GUILHERME et al

2015 Trabalho em evento

LS Genetics

Cytogenomic investigation in patients with Oculocuriculovertebral Spectrum (OAVS) and candidate loci relevant to phenotype

10th European Cytogenetics Conference 2015

Milleny E S COLOVAN; Silvia BRAGAGNOLO; Roberta S GUILHERME; Anelisa G DANTAS; Maria De Fatima SOARES et al

2015 Trabalho em evento

LS Genetics

Phenotypic Spectrum in Richieri-Costa-pereira syndrome

12th ISDS Meeting Istanbul 2015

D R BERTOLA; Lucas ALVIZI; Gabriella HSIA; Renata Di FRANCESCO; Larissa ATHAYDE et al

2015 Trabalho em evento

HS Pediatrics; Perinatology and Child Health

Case Report: A 2 yo Brazilian girl with an usual form of rhizomelic chondrodysplasia punctata

12th International Skeletal Dysplasia Society Meeting (ISDS) 2015

Wagner Antonio Da Rosa BARATELA; Guilherme L YAMAMOTO; Luiz OLIVEIRA; Rachel S HONJO; Chong Ae KIM et al

2015 Trabalho em evento

LS Genetics

Compound heterozygote with mosaic variant: Brodening the phenotypic spectrum of ciliopathies associated with DYN2H1

12th International Skeletal Dysplasia Society Meeting-2015

G L YAMAMOTO; Larissa TESTAI; Christine H CHUNG; Wagner A R BARATELA; R HONJO et al

2015 Trabalho em evento

HS Medicine (miscellaneous)

Early enzyme replacement therapy in Mucopolysaccharidosis VI: Results pf a long term follow-up of Brazilian sibilings

12th International Skeletal Dysplasia Society Meeting -2015

Chong Ae KIM; J FRANCO; Leuridan TORRES; R HONJO; Bertola Debora R et al