Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Juan, Clinton Llerena"'
Autor:
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion
Externí odkaz:
https://doaj.org/article/e84d1fd76bd94baeb08f9cf4c66b74fb
Autor:
Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, Gabriela Ferraz Leal, Têmis Maria Felix, Denise Pontes Cavalcanti, Juan Clinton Llerena, Sayonara Gonzalez
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.71A>G), the most common RMRP variant worldwide. More than 130 pathogenic variants in this gene have a
Externí odkaz:
https://doaj.org/article/34039a6314534692b817227cc3c278af
Autor:
Gustavo Henrique Torraca Larangeira, Laila Maria Silveira Gallo de Souza, Julia Valeriano de Almeida, Yuri Costa de Araujo Moraes, Patricia Santana Correia, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena Junior
Publikováno v:
Clinical and Biomedical Research, Vol 42, Iss 1 (2022)
Introdução A Síndrome de Cornelia de Lange (CdLS) (OMIM: 122470) é uma doença genética rara com quadro clínico e fenótipo variáveis, compreendendo um grupo de doenças denominado coesinopatia. Entre suas principais características destacam-
Externí odkaz:
https://doaj.org/article/81f5a29711d14919a8c2dcca7428c6de
Autor:
Maria Aline Ferreira de Cerqueira, Luciana Maria Fortes Magalhães Castelo Branco Couto, Mírian Perpétua Palha Dias Parente, Juan Clinton Llerena
Publikováno v:
Pediatric Hematology and Oncology. :1-10
Strokes affect up to 10% of children with sickle-cell disease (SCD). The most commonly used strategy to prevent a first-time stroke or its recurrence is to perform periodic red blood cell transfusions. This article aims to evaluate the quality of lif
Autor:
Joseane Biso de Carvalho, Guilherme Loss de Morais, Thays Cristine dos Santos Vieira, Natana Chaves Rabelo, Juan Clinton Llerena, Sayonara Maria de Carvalho Gonzalez, Ana Tereza Ribeiro de Vasconcelos
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in codi
Externí odkaz:
https://doaj.org/article/c28b9dd6ffd34555a95fe4c50f5795c6
Autor:
Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay, Teresa de Souza Fernandez
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congen
Externí odkaz:
https://doaj.org/article/52745ae4882242ecae59ba644beaa637
Autor:
Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, Letícia daCunha Guida
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alteration
Externí odkaz:
https://doaj.org/article/844a29158d6e4aa6bd6f854a02a4e891
Autor:
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Juan Clinton Llerena, Niels Tommerup, Elenice Ferreira Bastos
Background: Apparently balanced translocations (ABTs) are a widely used tool for delineating candidate regions for genotype-phenotype correlation of Mendelian diseases, and with the advance of new technologies new methods are emerging to help us in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96d0491aa38e542bb1323cf2d9b34899
https://doi.org/10.21203/rs.3.rs-2288275/v1
https://doi.org/10.21203/rs.3.rs-2288275/v1
Autor:
Leila Cabral de Almeida, Cardoso, Alejandro, Parra, Cristina Ríos, Gil, Pedro, Arias, Natalia, Gallego, Valeria, Romanelli, Piranit Nik, Kantaputra, Leonardo, Lima, Juan Clinton, Llerena Júnior, Claudia, Arberas, Encarna, Guillén-Navarro, Julián, Nevado, Spanish OverGrowth Registry Initiative, Jair, Tenorio-Castano, Pablo, Lapunzina
Publikováno v:
Cancers. 14(15)
Beckwith-Wiedemann syndrome spectrum (BWSp) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. Clinical features include overgrowth, macroglossia, neonatal hypoglycaemia, omphalocele, hemihyperplasia, cleft pa
Autor:
Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise Pontes Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena Jr, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Hector N. Seuánez, Eduardo Enrique Castilla, Iêda Maria Orioli
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 250-262 (2014)
Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microfo
Externí odkaz:
https://doaj.org/article/2c49f53a85b04a1988e64794050857aa