Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Anelisa Gollo DANTAS"'
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
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
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
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
https://doi.org/10.1016/j.ejmg.2022.104440
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)
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
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-166X2019000100609&lng=en&tlng=en
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
https://doi.org/10.1159/000452237
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
https://doi.org/10.1016/j.clim.2020.108590
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
https://pubmed.ncbi.nlm.nih.gov/30627818
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
https://doi.org/10.1007/s13353-015-0311-8
Autor:
Anelisa Gollo Dantas, Vera Ayres Meloni, Adriana Bortolai, Maria Isabel Melaragno, Adriana Azoubel Antunes, Mariana Moysés-Oliveira, Beatriz Tavares Costa-Carvalho, Sylvia Takeno Herrero
Publikováno v:
Molecular Syndromology. 6:242-247
We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669a0639950f203336ffa26ab156e042
https://doi.org/10.1159/000441243
https://doi.org/10.1159/000441243