Zobrazeno 1 - 10 of 756 pro vyhledávání: '"Gene DMPK"'
1
Dissertation/ Thesis
Identificação e avaliação da distribuição alélica de repetições do trinucleotídeo CTG no gene DMPK em indivíduos saudáveis e em pacientes com distrofia miotônica tipo 1
Autor: Rodrigues, Luiza Paulsen
Publikováno v: Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.
O gene DMPK (Dystrophia Myotonica-Protein Kinase) humano está localizado no locus 19q13.3, sendo dividido em 15 éxons, com uma região polimórfica de repetições CTG em sua região 3’ não traduzida. Indivíduos normais apresentam de 5 a 34 rep
Externí odkaz: http://hdl.handle.net/10183/158225
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2
Akademický článek
Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing.
Autor: Chen, H. Y.1, Kathirvel, P.1, Yee, W. C.1 yee.woon.chee@sgh.com.sg, Lai, P. S.2
Publikováno v: Gene Therapy. Feb2009, Vol. 16 Issue 2, p211-217. 7p. 2 Black and White Photographs, 1 Diagram, 2 Graphs.
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3
Akademický článek
Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1.
Autor: Bérenger-Currias, Noémie1 (AUTHOR), Martinat, Cécile1 (AUTHOR) cmartinat@istem.fr, Baghdoyan, Sandrine1 (AUTHOR)
Publikováno v: Cells (2073-4409). Feb2023, Vol. 12 Issue 4, p571. 18p.
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4
Hipotonia e dificuldades alimentares no recém-nascido: um caso de distrofia miotónica tipo 1 congénita
Autor: Silva,Cláudia Teles, Madureira,Cristina, Melo,Cláudia, Martins,Cecília, Cardoso,Raquel, Miguel,Cristina
Publikováno v: Nascer e Crescer, Volume: 27, Issue: 4, Pages: 246-248, Published: DEC 2018
Nascer e Crescer v.27 n.4 2018
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Introduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e2121f652e253a73995dc7ffcd87c390
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006&lng=en&tlng=en
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5
Perturbação do espectro do autismo e Distrofia Miotónica tipo 1
Autor: Alves, Patrícia Amorim
Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::95e45c93e392bbf08c272f25ce1cc2a1
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6
Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
Autor: Silva, Cláudia Teles, Madureira, Cristina, Melo, Cláudia, Martins, Cecília, Cardoso, Raquel, Miguel, Cristina
Publikováno v: Nascer e Crescer, Vol 27, Iss 4, Pp 246-248 (2019)
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 27 No. 4 (2018); 246-248
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 27 N.º 4 (2018); 246-248
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Introduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report:A newborn male with prenatal diagnosis of ventriculomegaly an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e45e11e16a329184722b329827c1c1c3
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7
Akademický článek
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample.
Autor: Amenabar, F.1, Jorquera, H.2, Acuña, M.1, Cifuentes, L.1 lcifuent@med.uchile.cl
Publikováno v: Acta Neurologica Scandinavica. May2009, Vol. 119 Issue 5, p321-324. 4p. 3 Graphs.
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8
Akademický článek
Endocrine Dysfunction in Patients With Myotonic Dystrophy.
Autor: Winters, Stephen J.
Publikováno v: Journal of Clinical Endocrinology & Metabolism; Oct2021, Vol. 106 Issue 10, p2819-2827, 9p
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9
Akademický článek
Kongenitalna miotonička distrofija - prikaz bolesnika.
Autor: Delin, Sanja1 delinsanja@gmail.com, Pavić, Linda1, Sasso, Antun2, Barbarić, Irena2, Krakar, Goran3, Nađ, Ida4
Publikováno v: Paediatria Croatica. Oct-Dec2014, Vol. 58 Issue 4, p278-282. 5p.
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