Výsledky vyhledávání - "Gollo Dantas A"

Akademický článek

Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

Autor: Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, Pedro Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)

Abstract Background The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even though most patients present the typical 3 Mb microdeletion, usually affecting the same ~ 106 genes. One of

Externí odkaz: https://doaj.org/article/05635cc8516341eb8457684996a94f86

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Akademický článek

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Autor: Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno

Publikováno v: Genetics Research, Vol 2024 (2024)

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS c

Externí odkaz: https://doaj.org/article/3aec9cf7c8f64a16aa4b81645a566b72

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Akademický článek

Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Autor: Larissa Salustiano Evangelista PIMENTA, Cláudia Berlim de MELLO, Diogo Cordeiro de Queiroz SOARES, Anelisa Gollo DANTAS, Maria Isabel MELARAGNO, Leslie Domenici KULIKOWSKI, Chong Ae KIM

Publikováno v: Estudos de Psicologia (Campinas), Vol 36 (2019)

Abstract The 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectua

Externí odkaz: https://doaj.org/article/16f316dc1f7549c081f1a9a5d1c6b03a

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CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants

Autor: Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, Paula Cola, Francisco de Agostinho Júnior, Flavia Balbo Piazzon, Vera Ayres Meloni, Maria Isabel Melaragno

Publikováno v: European Journal of Medical Genetics. 65:104440

CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuro ichthyotic syndrome characterized by a clinical constellation of features including severe developmental delay, microcephaly, and facial dysmorphism. Here, we r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220138fbbb3366a3d561fe45f7338442
https://doi.org/10.1016/j.ejmg.2022.104440

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Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Autor: Maria Isabel Melaragno, Chong Ae Kim, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Claudia Berlim de Mello, Anelisa Gollo Dantas, Larissa Salustiano Evangelista Pimenta

Publikováno v: Estudos de Psicologia (Campinas), Volume: 36, Article number: e180101, Published: 11 NOV 2019
Estudos de Psicologia (Campinas) v.36 2019
Estudos de Psicologia (Campinas)
Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
instacron:PUC_CAMP
Estudos de Psicologia (Campinas), Vol 36 (2019)

The 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectual variabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c65c056b5c15e499be8fe655209a71d7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-166X2019000100609&lng=en&tlng=en

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Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

Autor: Maria Isabel Melaragno, Roberta Santos Guilherme, Malú Zamariolli de Souza, Ana B. Alvarez Perez, Mileny E. S. Colovati, Silvia Bragagnolo, Anelisa Gollo Dantas, Maria F. de Soares

Publikováno v: Cytogenetic and Genome Research. 150:17-22

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b9d879861410e30077dd2e1486ac6e2
https://doi.org/10.1159/000452237

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Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome

Autor: Marina Cadena da Matta, Leuridan Cavalcante Torres, Magda Carneiro-Sampaio, Anelisa Gollo Dantas, Maria Isabel Melaragno, Chong Ae Kim, Marília M. Montenegro, Leslie Domenici Kulikowski, Diogo Cordeiro de Queiroz Soares, Antonio Carlos Pastorino

Publikováno v: Clinical Immunology. 220:108590

22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and aut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a783ebacbabca2bcfd6493508106abca
https://doi.org/10.1016/j.clim.2020.108590

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Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome

Autor: Anelisa Gollo Dantas, Vera Ayres Meloni, Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Diogo Cordeiro de Queiroz Soares, Sintia Nogueira Belangero, Marcos L. Santoro, Maria Isabel Melaragno, Chong Ae Kim, Gianna Carvalheira, Natalia Neto Dos Santos Nunes

Publikováno v: Human genetics. 138(1)

The 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent hemizygous deletions of chromosome 22q11.2. The phenotype of the syndrome is complex and varies widely among individuals. Little is known about the role of the different genes located i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f500b3258626be4fd8c9a031bbe5e8
https://pubmed.ncbi.nlm.nih.gov/30627818

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Position effect modifying gene expression in a patient with ring chromosome 14

Autor: Leslie Domenici Kulikowski, Roberta Santos Guilherme, Mariana Moysés-Oliveira, Mileny E. S. Colovati, Maria Isabel Melaragno, Vera Ayres Meloni, Anelisa Gollo Dantas

Publikováno v: Journal of Applied Genetics. 57:183-187

The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4837e395079ce899f90d1574c1088f1
https://doi.org/10.1007/s13353-015-0311-8

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