Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Miriam Coelho Molck"'
1
Akademický článek
Genomic imbalances in syndromic congenital heart disease
Autor: Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett‐Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil‐da‐Silva‐Lopes
Publikováno v: Jornal de Pediatria (Versão em Português), Vol 93, Iss 5, Pp 497-507 (2017)
Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, p
Externí odkaz: https://doaj.org/article/3f3992170e8e45dd87eb85b3d4f77168
Zobrazit plný text záznamu
2
Akademický článek
Copy number variation in the susceptibility to systemic lupus erythematosus.
Autor: Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M Bonilla, Tânia Kawasaki de Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões
Publikováno v: PLoS ONE, Vol 13, Iss 11, p e0206683 (2018)
Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and etiology characterized by chronic inflammation and autoantibody production. The purpose of this study was to ascertain copy number variation (CNV) in SLE
Externí odkaz: https://doaj.org/article/03becdc2e13043aba5cf02ae137b9926
Zobrazit plný text záznamu
3
Akademický článek
Genomic imbalances in syndromic congenital heart disease
Autor: Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett-Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v: Jornal de Pediatria, Vol 93, Iss 5, Pp 497-507
Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 de
Externí odkaz: https://doaj.org/article/650447046f964a45909e3e359e1794bf
Zobrazit plný text záznamu
4
Frequency and Genetic Profile of Compound Heterozygous Friedreich’s Ataxia Patients—the Brazilian Experience
Autor: Wilson Marques, Luciana Cardoso Bonadia, Laura Bannach Jardim, Miriam Coelho Molck, Marcondes C. França, Thiago Mazzo Peluzzo, Amanda Donatti, Iscia Lopes-Cendes
Publikováno v: The Cerebellum. 18:1143-1146
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It is caused by a homozygous GAA expansion in the first intron of the frataxin gene (FXN) (OMIM: 606829) in 96% of the affected individuals. The remainin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3138c8c5ce692db94e782731f44b339f
https://doi.org/10.1007/s12311-019-01055-z
Zobrazit plný text záznamu
5
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Autor: Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira, Milena Simioni, Fabíola Paoli Monteiro
Publikováno v: Molecular Syndromology. 9:197-204
Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60a401d4a5594f43804a7357b75bf06
https://doi.org/10.1159/000489870
Zobrazit plný text záznamu
6
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Autor: Vera Lúcia Gil-da-Silva-Lopes, Carla Rosenberg, Ana Andrade, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Miriam Coelho Molck, Ana Cristina Victorino Krepischi, Diogo Lucas Lima do Nascimento, Simone Appenzeller, Ana Paula Santos, Milena Simioni
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f471e5ecd5001905eb24cf1bacf2b5ef
https://doi.org/10.1002/ajmg.a.37494
Zobrazit plný text záznamu
7
8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome
Autor: Miriam Coelho Molck, Milena Simioni, Fabíola Paoli Monteiro, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v: Journal of Developmental & Behavioral Pediatrics. 36:544-548
Copy number variation studies of known disorders have the potential to improve the characterization of clinical phenotypes and may help identifying candidate genes and their pathways. The authors described a child with congenital heart disease, micro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202d0374f385745279edd287ddcc7429
https://doi.org/10.1097/dbp.0000000000000197
Zobrazit plný text záznamu
9
A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4
Autor: Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Fabíola Paoli Monteiro, Milena Simioni, Társis Paiva Vieira
Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eac1b86fdbe5dad9a7a331d35f83691
https://europepmc.org/articles/PMC5448466/
Zobrazit plný text záznamu
10
Genomic imbalances in syndromic congenital heart disease
Autor: Vera Lúcia Gil-da-Silva-Lopes, Milena Simioni, Társis Paiva Vieira, Josiane Souza, Agnes Cristina Fett-Conte, Fabíola Paoli Monteiro, Têmis Maria Félix, Isabella Lopes Monlleó, Miriam Coelho Molck, Ilária Cristina Sgardioli
Publikováno v: Jornal de Pediatria, Vol 93, Iss 5, Pp 497-507
Jornal de Pediatria (Versão em Português), Vol 93, Iss 5, Pp 497-507 (2017)
Jornal de Pediatria, Vol 93, Iss 5, Pp 497-507 (2017)
Jornal de Pediatria v.93 n.5 2017
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cdd7a2a1af24a991589fbf911676d03
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje