Juan Clinton Llerena Junior

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

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

Publicações

Total: 599

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
Alexandra Maria Monteiro GRISOLIA		Ciências da Saúde	Medicina
Chong Ae KIM		Ciências da Saúde	Medicina
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Débora Gusmão MELO		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Ediclea Mascarenhas FERNANDES		Ciências Humanas	Educação
Marcelo Aguiar Costa LIMA		Ciências Biológicas	Genética
Marcos Antonio Ferreira Do NASCIMENTO		Ciências da Saúde	Saúde Coletiva
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética
Silvia Regina Sampaio FREITAS		Ciências Biológicas	Genética
Valdelúcia Alves Da COSTA		Ciências Humanas	Educação

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 → 12

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1982	1983	1984	1985	1986	1987	1988	1989	1990	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	3	0	1	0	0	1	1	2	8	8	4	1	4	9	9	11	8	5	5	10	4	3	2	3	1	2	3	0	0	1	0	5	1	1	1	2	3	0	2	2	1	2	1	0
2701 · Medicine (miscellaneous)	0	0	0	0	0	0	1	0	1	0	4	1	5	5	2	8	8	5	10	12	5	10	4	3	2	4	8	1	0	0	1	2	1	1	1	0	2	0	2	1	1	2	0	0	0	0
2716 · Genetics (clinical)	0	0	0	2	0	0	0	0	0	0	1	0	7	5	9	4	3	6	2	6	2	9	6	8	1	8	2	2	1	5	0	1	0	1	0	0	0	0	1	0	0	0	1	2	1	1
3304 · Education	0	0	0	1	0	0	1	0	0	0	1	0	0	1	0	1	5	7	0	5	1	7	3	2	0	1	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2808 · Neurology	0	0	0	0	2	0	0	1	2	1	2	0	2	0	3	3	0	1	3	4	1	1	1	1	0	0	0	0	0	0	0	1	0	0	0	0	2	1	1	0	0	0	0	0	0	0
2735 · Pediatrics; Perinatology and Child Health	0	1	0	0	0	0	0	0	2	2	1	0	0	1	0	0	2	0	0	0	2	1	1	1	0	1	1	0	1	0	1	0	3	0	1	0	1	0	1	0	1	1	0	0	2	1
3201 · Psychology (miscellaneous)	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	2	6	1	1	2	0	3	2	1	0	0	1	0	0	0	1	1	0	0	1	0	0	1	0	0	1	0	0	0	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	1	2	2	0	0	1	0	2	0	0	0	1	1	0	2	0	0	1	3	0	1	0	0	2	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0
2728 · Neurology (clinical)	0	0	0	0	0	0	0	0	1	1	0	0	1	0	0	2	1	2	0	3	1	0	0	1	0	0	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	1	0	0	0	0	1	0	0	0	0	1	2	0	1	2	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	2	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	2	1	2	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2739 · Public Health; Environmental and Occupational Health	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	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2712 · Endocrinology; Diabetes and Metabolism	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1203 · Language and Linguistics	0	0	0	0	0	0	0	0	0	1	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
1307 · Cell Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2713 · Epidemiology	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	1	0	1
2719 · Health Policy	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	0	0	0	0	0	1	0
2736 · Pharmacology (medical)	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	1	0	0	0	1	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	1	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
1309 · Developmental Biology	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	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	0	0	0	0	0	0	0	0	0	0
1701 · Computer Science (miscellaneous)	0	0	0	0	0	0	0	1	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	0
2401 · Immunology and Microbiology (miscellaneous)	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	1	0	0	0	0	0	0	0	0	0	0	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1106 · Food Science	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	0	0
1201 · Arts and Humanities (miscellaneous)	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	0	0	0	0
1210 · Music	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	0	0	0	0
1302 · Aging	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	0	0
1306 · Cancer Research	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	0	0
1308 · Clinical Biochemistry	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	0	0	0
2204 · Biomedical Engineering	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	0	0
2710 · Embryology	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	0	0	0	1
2724 · Internal 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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2734 · Pathology and Forensic 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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2741 · Radiology; Nuclear Medicine and Imaging	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	0	0
2742 · Rehabilitation	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	0	0
2802 · Behavioral Neuroscience	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	0	0	0	0	0	0	0	0
2805 · Cognitive Neuroscience	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	0	0
3101 · Physics and Astronomy (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	0	0
3200 · General Psychology	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	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	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
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3306 · Health (social science)	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	0	0
3501 · Dentistry (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	0	0	0	0	0	0	0	0	0	1	0
3616 · Speech and Hearing	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	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2022	Artigo em periódico	SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation Silveira CYNTHIA; Da Costa Silveira KARINA; Lacarrubba Flores Maria D; Sakata Maurício T; Carbognani Silvia N et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000525020 ISSN 1661-8769	LS Genetics
2022	Artigo em periódico	Sickle-Cell Disease and Stroke: Quality of Life of Patients in a Chronic Transfusion Regimen from the Caregivers? Perspective Cerqueira Maria Aline Ferreira DE; Couto Luciana Maria Fortes Magalhães Castelo BRANCO; Parente Mírian Perpétua Palha DIAS; Juan Clinton Llerena JUNIOR PEDIATRIC HEMATOLOGY AND ONCOLOGY DOI 10.1080/08880018.2022.2148030 ISSN 0888-0018	HS Medicine (miscellaneous)
2021	Artigo em periódico	Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS Elizabeth ARTMANN; Juan Clinton Llerena JUNIOR; Laura Terezina PEREIRA; Luciane BINSFELD; Francisco Javier Uribe RIVERA Ciência & Saúde Coletiva DOI 10.1590/1413-81232021269.2.27272019 ISSN 1678-4561	HS Medicine (miscellaneous)
2021	Artigo em periódico	CARACTERÍSTICAS CLÍNICO-FUNCIONAIS DE INDIVÍDUOS COM OSTEOGÊNESE IMPERFEITA Mariana Araújo Goes Da MOTA; Nicolette Celani CAVALCANTI; Cássio Daniel Araújo Da SILVA; Juan Clinton Llerena JUNIOR MOVIMENTA ISSN 1984-4298	SH Psychology (miscellaneous)
2021	Artigo em periódico	New SHH</i></b> and Known SIX3</i></b> Variants in a Series of Latin American Patients with Holoprosencephaly De Castro Viviane FREITAS; Mattos DANIEL; De Carvalho Flavia MARTINEZ; Cavalcanti Denise PONTES; Duenas Roque Milagros M et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000515044 ISSN 1661-8769	LS Genetics
2021	Artigo em periódico	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease Alícia Dorneles DORNELLES; Ana Paula Pedroso JUNGES; Tiago Veiga PEREIRA; Bárbara Corrêa KRUG; Candice Beatriz Treter GONÇALVES et al Journal of Clinical Medicine DOI 10.3390/jcm10214828 ISSN 2077-0383	HS Pediatrics; Perinatology and Child Health
2021	Artigo em periódico	High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3</i> -Related Skeletal Dysplasias Riba Fernanda Rolemberg G; Gomes Maria E S; Rabelo Natana CHAVES; Zuma Maria Celia C; Juan Clinton Llerena JUNIOR et al Genetic Testing and Molecular Biomarkers DOI 10.1089/gtmb.2020.0330 ISSN 1945-0265	LS Genetics
2021	Artigo em periódico	International Consensus Statement on the diagnosis; multidisciplinary management and lifelong care of individuals with achondroplasia Savarirayan RAVI; Ireland PENNY; Irving MELITA; Thompson DOMINIC; Alves INÊS et al Nature Reviews Endocrinology DOI 10.1038/s41574-021-00595-x ISSN 1759-5029	HS Endocrinology; Diabetes and Metabolism
2020	Artigo em periódico	Respiratory function during enzyme replacement therapy in late-onset Pompe disease: lomgitudinal course; prognostic factors; and the impact of time from diagnosis to tredatment start David STOCKTON; Kishnani Priya S; Ploeg Ans T; Juan Clinton Llerena JUNIOR; Matthias BOENTERT et al 101007/s00415-020-09936-8 ISSN 1432-1459	HS Medicine (miscellaneous)
2020	Artigo em periódico	A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes Ferreira Igor RIBEIRO; Costa Régis AFONSO; Leonardo Henrique Ferreira GOMES; Dos Santos Cunha Wilton DARLEANS; Tyszler Latife SALOMÃO et al Scientific Reports DOI 10.1038/s41598-020-69750-0 ISSN 2045-2322	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2019	Capítulo de livro	Ampliação do acesso de pessoas com deficiência e doenças raras ao SUS: experiências em curso Daniela Koeller Rodrigues VIEIRA; Juan Clinton Llerena JUNIOR; Attianezi MARGARETH; Angelina Xavier ACOSTA; Kiyoko Abe SANDES Ampliação do acesso de pessoas com deficiência e doenças raras ao SUS: experiências em curso ISBN 9788575416303	SH Education
2019	Capítulo de livro	Genética médica; Sistema ùnico de Saúde e Integralidade na atenção à saúde Juan Clinton Llerena JUNIOR Pessoas com deficência e doenças raras. O cuidado na atenção primária ISBN 9788575416303	HS Medicine (miscellaneous)
2019	Capítulo de livro	TRANSLOCAÇÃO BALANCEADA HERDADA T(8-19)(Q12-Q13)MAT CONCOMITANTE À DELEÇÃO DE 15Q11.2 EM UM PACIENTE COM SÍNDROME DE ANGELMAN (SA) - A CITOGENÉTICA CLÁSSICA NÃO EVANESCE Elenice Ferreira BASTOS; Fonseca Carlos Roberto DA; Correia Patrícia SANTANA; Barros Cristiane Queila EBRAIM; Lima Ingrid Bendas FERES et al As Ciências Biológicas e a Construção de Novos Paradigmas de Conhecimento DOI 10.22533/at.ed.4021915089 ISBN 9788572475402	LS Genetics
2019	Livro	Crianças e Adolescentes com doenças raras. Narativas e trajetórias de cuidado Antilia Januária MARTINS; Juan Clinton Llerena JUNIOR — ISBN 9788584041978	HS Pediatrics; Perinatology and Child Health
2019	Artigo em periódico	A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients Ribeiro Ferreira IGOR; Darleans Dos Santos Cunha WILTON; Henrique Ferreira Gomes LEONARDO; Azevedo Cintra HIAGO; Lopes Cabral Guimarães Fonseca LETÍCIA et al MOLECULAR GENETICS & GENOMIC MEDICINE DOI 10.1002/mgg3.637 ISSN 2324-9269	HS Medicine (miscellaneous)
2019	Artigo em periódico	variants and phenotypes among 1;079 patients with Pompe disease: Data from the Pompe Registry Reuser Arnold J J; Ploeg Ans T; Chien Yin HSIU; Juan Clinton Llerena JUNIOR; Abbott Mary ALICE et al HUMAN MUTATION DOI 10.1002/humu.23878 ISSN 1059-7794	HS Genetics (clinical)
2019	Artigo em periódico	Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome Gomes Maria E; Calatrava Paternostro LUIZA; Moura Valéria R; Antunes DEBORAH; Caffarena Ernesto R et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000501892 ISSN 1661-8769	LS Genetics
2019	Artigo em periódico	Inherited Cryptic Translocation t(12-17)(q24.3-p13.3) Causing Recurrence of Miller-Dieker Syndrome Carlos Roberto Da FONSECA; Ingrid Bendas Feres LIMA; Maria De Jesus Esteves CAMILO; Kleber Da Silva FIGUEIREDO; Anna Luiza Vaz SERRÃO et al International Journal of Genetics and Genomics DOI 10.11648/j.ijgg.20190703.12 ISSN 2376-7340	LS Neurology
2019	Artigo em periódico	miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes De Carvalho Joseane BISO; De Morais Guilherme LOSS; Vieira Thays Cristine Dos SANTOS; Rabelo Natana CHAVES; Juan Clinton Llerena JUNIOR et al Frontiers in Genetics DOI 10.3389/fgene.2019.01144 ISSN 1664-8021	LS Genetics
2018	Artigo em periódico	Novel and Recurrent Mutations in the FGFR3 </i></b> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia Gomes Maria E S; Kanazawa Thatiane Y; Riba Fernanda R; Pereira Natálya G; Zuma Maria C C et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000486697 ISSN 1661-8769	LS Genetics
2018	Artigo em periódico	Further example of classical autism patient associated to PTCH1 Gorlin syndrome Juan Clinton Llerena JUNIOR; Esposito Ana CAROLINA; Cassio Luiz De Carvalho SERAO; Jose C Cabral De ALMEIDA JMS Communication Disorders ISSN 1873-7994	LS Neurology
2018	Artigo em periódico	An uncommon t(9-11)(p24-q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia Lovatel Viviane LAMIM; De Souza Daiane CORRÊA; Alvarenga Tatiana FONSECA; Capela De Matos Roberto R; Diniz CLAUDIA et al Molecular Cytogenetics DOI 10.1186/s13039-018-0389-x ISSN 1755-8166	LS Genetics
2018	Artigo em periódico	A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability Ceroni J R M; Dutra R L; Honjo R S; Juan Clinton Llerena JUNIOR; Angelina Xavier ACOSTA et al Scientific Reports DOI 10.1038/s41598-018-31754-2 ISSN 2045-2322	SH Psychology (miscellaneous)
2017	Artigo em periódico	Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy De Almeida Thomazinho PAULA; Scalco Fernanda BERTÃO; De Oliveira Maria Lúcia COSTA; Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JUNIOR Open journal of clinical diagnostics. DOI 10.4236/ojcd.2017.71002 ISSN 2162-5816	HS Pediatrics; Perinatology and Child Health
2017	Artigo em periódico	Fetal skeletal lethal dysplasia: case report Alexandre Mello SAVOLDI; Maria Auxiliadora Monteiro VILLAR; Heloisa Novaes MACHADO; Juan Clinton Llerena JUNIOR REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRÍCIA (IMPRESSO) ISSN 0100-7203	LS Neurology

2022 Artigo em periódico

LS Genetics

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

MOLECULAR SYNDROMOLOGY

Silveira CYNTHIA; Da Costa Silveira KARINA; Lacarrubba Flores Maria D; Sakata Maurício T; Carbognani Silvia N et al

DOI ISSN 1661-8769

2022 Artigo em periódico

HS Medicine (miscellaneous)

Sickle-Cell Disease and Stroke: Quality of Life of Patients in a Chronic Transfusion Regimen from the Caregivers? Perspective

PEDIATRIC HEMATOLOGY AND ONCOLOGY

Cerqueira Maria Aline Ferreira DE; Couto Luciana Maria Fortes Magalhães Castelo BRANCO; Parente Mírian Perpétua Palha DIAS; Juan Clinton Llerena JUNIOR

DOI ISSN 0888-0018

2021 Artigo em periódico

HS Medicine (miscellaneous)

Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS

Ciência & Saúde Coletiva

Elizabeth ARTMANN; Juan Clinton Llerena JUNIOR; Laura Terezina PEREIRA; Luciane BINSFELD; Francisco Javier Uribe RIVERA

DOI ISSN 1678-4561

2021 Artigo em periódico

SH Psychology (miscellaneous)

CARACTERÍSTICAS CLÍNICO-FUNCIONAIS DE INDIVÍDUOS COM OSTEOGÊNESE IMPERFEITA

MOVIMENTA

Mariana Araújo Goes Da MOTA; Nicolette Celani CAVALCANTI; Cássio Daniel Araújo Da SILVA; Juan Clinton Llerena JUNIOR

ISSN 1984-4298

2021 Artigo em periódico

LS Genetics

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

MOLECULAR SYNDROMOLOGY

De Castro Viviane FREITAS; Mattos DANIEL; De Carvalho Flavia MARTINEZ; Cavalcanti Denise PONTES; Duenas Roque Milagros M et al

DOI ISSN 1661-8769

2021 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

Journal of Clinical Medicine

Alícia Dorneles DORNELLES; Ana Paula Pedroso JUNGES; Tiago Veiga PEREIRA; Bárbara Corrêa KRUG; Candice Beatriz Treter GONÇALVES et al

DOI ISSN 2077-0383

2021 Artigo em periódico

LS Genetics

High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3 -Related Skeletal Dysplasias

Genetic Testing and Molecular Biomarkers

Riba Fernanda Rolemberg G; Gomes Maria E S; Rabelo Natana CHAVES; Zuma Maria Celia C; Juan Clinton Llerena JUNIOR et al

DOI ISSN 1945-0265

2021 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

International Consensus Statement on the diagnosis; multidisciplinary management and lifelong care of individuals with achondroplasia

Nature Reviews Endocrinology

Savarirayan RAVI; Ireland PENNY; Irving MELITA; Thompson DOMINIC; Alves INÊS et al

DOI ISSN 1759-5029

2020 Artigo em periódico

HS Medicine (miscellaneous)

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: lomgitudinal course; prognostic factors; and the impact of time from diagnosis to tredatment start

101007/s00415-020-09936-8

David STOCKTON; Kishnani Priya S; Ploeg Ans T; Juan Clinton Llerena JUNIOR; Matthias BOENTERT et al

ISSN 1432-1459

2020 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

Scientific Reports

Ferreira Igor RIBEIRO; Costa Régis AFONSO; Leonardo Henrique Ferreira GOMES; Dos Santos Cunha Wilton DARLEANS; Tyszler Latife SALOMÃO et al

DOI ISSN 2045-2322

2019 Capítulo de livro

SH Education

Ampliação do acesso de pessoas com deficiência e doenças raras ao SUS: experiências em curso

Daniela Koeller Rodrigues VIEIRA; Juan Clinton Llerena JUNIOR; Attianezi MARGARETH; Angelina Xavier ACOSTA; Kiyoko Abe SANDES

ISBN 9788575416303

2019 Capítulo de livro

HS Medicine (miscellaneous)

Genética médica; Sistema ùnico de Saúde e Integralidade na atenção à saúde

Pessoas com deficência e doenças raras. O cuidado na atenção primária

Juan Clinton Llerena JUNIOR

ISBN 9788575416303

2019 Capítulo de livro

LS Genetics

TRANSLOCAÇÃO BALANCEADA HERDADA T(8-19)(Q12-Q13)MAT CONCOMITANTE À DELEÇÃO DE 15Q11.2 EM UM PACIENTE COM SÍNDROME DE ANGELMAN (SA) - A CITOGENÉTICA CLÁSSICA NÃO EVANESCE

As Ciências Biológicas e a Construção de Novos Paradigmas de Conhecimento

Elenice Ferreira BASTOS; Fonseca Carlos Roberto DA; Correia Patrícia SANTANA; Barros Cristiane Queila EBRAIM; Lima Ingrid Bendas FERES et al

DOI ISBN 9788572475402

2019 Livro

HS Pediatrics; Perinatology and Child Health

Crianças e Adolescentes com doenças raras. Narativas e trajetórias de cuidado

—

Antilia Januária MARTINS; Juan Clinton Llerena JUNIOR

ISBN 9788584041978

2019 Artigo em periódico

HS Medicine (miscellaneous)

A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

MOLECULAR GENETICS & GENOMIC MEDICINE

Ribeiro Ferreira IGOR; Darleans Dos Santos Cunha WILTON; Henrique Ferreira Gomes LEONARDO; Azevedo Cintra HIAGO; Lopes Cabral Guimarães Fonseca LETÍCIA et al

DOI ISSN 2324-9269

2019 Artigo em periódico

HS Genetics (clinical)

variants and phenotypes among 1;079 patients with Pompe disease: Data from the Pompe Registry

HUMAN MUTATION

Reuser Arnold J J; Ploeg Ans T; Chien Yin HSIU; Juan Clinton Llerena JUNIOR; Abbott Mary ALICE et al

DOI ISSN 1059-7794

2019 Artigo em periódico

LS Genetics

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

MOLECULAR SYNDROMOLOGY

Gomes Maria E; Calatrava Paternostro LUIZA; Moura Valéria R; Antunes DEBORAH; Caffarena Ernesto R et al

DOI ISSN 1661-8769

2019 Artigo em periódico

LS Neurology

Inherited Cryptic Translocation t(12-17)(q24.3-p13.3) Causing Recurrence of Miller-Dieker Syndrome

International Journal of Genetics and Genomics

Carlos Roberto Da FONSECA; Ingrid Bendas Feres LIMA; Maria De Jesus Esteves CAMILO; Kleber Da Silva FIGUEIREDO; Anna Luiza Vaz SERRÃO et al

DOI ISSN 2376-7340

2019 Artigo em periódico

LS Genetics

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

Frontiers in Genetics

De Carvalho Joseane BISO; De Morais Guilherme LOSS; Vieira Thays Cristine Dos SANTOS; Rabelo Natana CHAVES; Juan Clinton Llerena JUNIOR et al

DOI ISSN 1664-8021

2018 Artigo em periódico

LS Genetics

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

MOLECULAR SYNDROMOLOGY

Gomes Maria E S; Kanazawa Thatiane Y; Riba Fernanda R; Pereira Natálya G; Zuma Maria C C et al

DOI ISSN 1661-8769

2018 Artigo em periódico

LS Neurology

Further example of classical autism patient associated to PTCH1 Gorlin syndrome

JMS Communication Disorders

Juan Clinton Llerena JUNIOR; Esposito Ana CAROLINA; Cassio Luiz De Carvalho SERAO; Jose C Cabral De ALMEIDA

ISSN 1873-7994

2018 Artigo em periódico

LS Genetics

An uncommon t(9-11)(p24-q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

Molecular Cytogenetics

Lovatel Viviane LAMIM; De Souza Daiane CORRÊA; Alvarenga Tatiana FONSECA; Capela De Matos Roberto R; Diniz CLAUDIA et al

DOI ISSN 1755-8166

2018 Artigo em periódico

SH Psychology (miscellaneous)

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

Scientific Reports

Ceroni J R M; Dutra R L; Honjo R S; Juan Clinton Llerena JUNIOR; Angelina Xavier ACOSTA et al

DOI ISSN 2045-2322

2017 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Open journal of clinical diagnostics.

De Almeida Thomazinho PAULA; Scalco Fernanda BERTÃO; De Oliveira Maria Lúcia COSTA; Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JUNIOR

DOI ISSN 2162-5816

2017 Artigo em periódico

LS Neurology

Fetal skeletal lethal dysplasia: case report

REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRÍCIA (IMPRESSO)

Alexandre Mello SAVOLDI; Maria Auxiliadora Monteiro VILLAR; Heloisa Novaes MACHADO; Juan Clinton Llerena JUNIOR

ISSN 0100-7203