Výsledky vyhledávání - "Síndrome DiGeorge"

Akademický článek

Consideraciones anestésicas enpacientes con microdeleción del cromosoma 22q11

Publikováno v: Revista Chilena de Anestesia, Vol 48, Iss 1, Pp 73-81 (2019)

El síndrome de microdeleción 22q11 corresponde a un patrón de anomalías que se produce al perderse una región específica del cromosoma 22, específicamente llamada 22q11.2. Esta microdeleción corresponde a la alteración genética más frecuen

Externí odkaz: https://doaj.org/article/e4c91a11622e4870b11997323c1ab59a

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Consideraciones anestésicas enpacientes con microdeleción del cromosoma 22q11

Autor: C Ignacio Barra, José Domínguez

Publikováno v: Revista Chilena de Anestesia, Vol 48, Iss 1, Pp 73-81 (2019)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f97f3c1c7b312efb09e646413cfa89a
https://doi.org/10.25237/revchilanestv48n01.13

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22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features

Autor: Azubel Ramírez Velazco, Horacio Rivera Ramírez, Ana Isabel Vásquez Velázquez, Thania Alejandra Aguayo Orozco, Saturnino Delgadillo Pérez, María Guadalupe Dominguez

Publikováno v: Colombia Médica : CM

Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.We looked for a 22q11.2 deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64ba5b7b481fee9c2d45430b52584cd
http://europepmc.org/articles/PMC6220481

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Machine Learning and Systems Biology applied to the study of the 22q11 Microdeletion Syndrome

Autor: Alves, Camila Cristina de Oliveira

Publikováno v: Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

Submitted by Camila Cristina de Oliveira Alves (cris_camila@yahoo.com.br) on 2019-06-13T14:48:00Z No. of bitstreams: 1 dissert_camila_versao_PARCIAL.pdf: 3346102 bytes, checksum: d95616c5de87d9ce759d4a5e290e70e3 (MD5) Rejected by ROSANGELA APARECIDA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::9f7935ab666561db9fe0139e69267b71

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Electronic Resource

Aprendizado de Máquina e Biologia de Sistemas aplicada ao estudo da Síndrome de Microdeleção 22q11

Autor: Alves, Camila Cristina de Oliveira.

Orientador: Lucilene Arilho Ribeiro Bicudo
A Síndrome de Microdeleção 22q11 (SD22q11), causada por uma deleção de aproximadamente 3Mb na região 22q11, apresenta uma frequencia média de 1 em 4000 a 9800 nascidos vivos sendo considera a sí

Externí odkaz: http://hdl.handle.net/11449/182382

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22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features

Autor: Ramírez-Velazco, Azubel, Rivera, Horacio, Vásquez-Velázquez, Ana Isabel, Aguayo-Orozco, Thania Alejandra, Delgadillo-Pérez, Saturnino, Domínguez, Maria Guadalupe

Publikováno v: Colombia Médica, Volume: 49, Issue: 3, Pages: 219-222, Published: SEP 2018

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Objective: We loo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______618::a29f7c8a81fe9c1254b8743323b573b8
http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S1657-95342018000300219&lng=en&tlng=en

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Síndrome de DiGeorge e Anel Vascular. Associação Invulgar e Abordagem Multidisciplinar

Autor: Garcia, P, Anjos, R, Abecassis, M, Oliveira Santos, J, Maymone Martins, F

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

A Síndrome velocardiofacial/DiGeorge/CATCH 22 consiste num espectro de associação caracterizado por fácies invulgar, insuficiência velo-palatina, anomalias cardíacas conotruncais, ausência do timo e das glândulas paratiróides, frequentemente

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b693caa9435472a88cf7020da99248a6
https://hdl.handle.net/10400.17/895

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