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Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1

open access: yesRevista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2019
La neurofibromatosis de tipo 1 es una enfermedad genética de herencia autosómica dominante, de afectación multisistémica y gran variabilidad fenotípica, causada por una mutación del gen NF1 localizada en el cromosoma 17 q11.2 que afecta la codificación ...
Dora Lucía Vallejo   +1 more
doaj  

Parálisis periódica hipocalémica familiar (PPHF): reporte de un caso y revisión del tema Periodic familial hypoaklemic paralysis: report of a case and review of the literature

open access: yesIatreia, 2002
La parálisis periódica hipocalémica familiar es una enfermedad que pertenece al grupo de las canalopatías. Consiste en la presentación de episodios de parálisis muscular progresivos en intensidad y frecuencia acompañada de hipocalemia.
José William Cornejo Ochoa   +2 more
doaj  

Carcinogénesis</a> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Salud Pública de México</i>, 2011 </span><br><span class="r_content">La división celular es controlada por una serie de sistemas que tienen efectos estimulantes o inhibitorios.El cáncer es de origen monoclonal, y para que una célula normal cambie su fenotipo y se convierta en una célula neoplásica deben ocurrir mutaciones </span><br><span class="r_sub"><i>María Teresa Martín de Civetta<span id="ma_3" style="display:none">, Julio Domingo Civetta</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_3')">+1 more</a></small></i></span><br><small><a href="https://doaj.org/article/932b3a99d15c423db0b8111a5ca24fb7" target="_blank" rel="nofollow" title="doaj.org/article/932b3a99d15c423db0b8111a5ca24fb7">doaj</a> </small>   <br></div><div class="r"><p class="r_title"><a href="https://doi.org/10.15517/am.2024.54329" target="_blank" rel="nofollow">Radiosensibilidad de tres variedades de tomate (Solanum lycopersicum L.) irradiadas con rayos gamma de Cobalto-60</a> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Agronomía Mesoamericana</i></span><br><span class="r_content">Introducción. El tomate (Solanum lycopersicum L.) es considerado uno de los cultivos más importantes en el mundo. La mejora genética del tomate ha empleado diferentes métodos para generar variabilidad, la inducción de mutaciones es una de las técnicas ...</span><br><span class="r_sub"><i>Jorge Enrique Jaén Villarreal<span id="ma_4" style="display:none">, María Caridad González Cepero, Ismael Camargo Buitrago, Ana Elida Sáez Cigarruista, Rodolfo Guillama Alonso, José Ángel Guerra Murillo</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_4')">+5 more</a></small></i></span><br><small><a href="https://doaj.org/article/5a1255307c084a988dabe32a0feae276" target="_blank" rel="nofollow" title="doaj.org/article/5a1255307c084a988dabe32a0feae276">doaj</a> </small>   <div id="more_4" style="display:none"><a href="/sci_redir.php?doi=10.15517%2Fam.2024.54329" target="_blank" rel="nofollow">openaccessbutton.org (pdf)</a><br><a href="javascript:navigator.clipboard.writeText('10.15517/am.2024.54329'); alert('Copied the doi');">copy doi</a> <small>(10.15517/am.2024.54329)</small><br></div><small><a href="#" onClick="return toggle_div(this, 'more_4')">+1 more source</a></small><br></div><div class="r"><p class="r_title"><a href="https://doi.org/10.25100/cm.v54i3.5353" target="_blank" rel="nofollow">JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.</a> <b><a href="https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC10726695&blobtype=pdf" target="_blank" rel="nofollow">[PDF]</a></b> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Colomb Med (Cali)</i>, 2023 </span><br><span class="r_sub"><i>Giraldo-Rincón AI<span id="ma_5" style="display:none">, Naranjo Molina S, Gomez-Lopera N, Aguirre Acevedo D, Ucroz Benavidez A, Gálvez Cárdenas K, Cuellar Ambrosí F, Cuellar Ambrosí F, Torres JD, Ospina S, Palacio K, Gaviria Jaramillo L, Muñeton CM, Vasquez Palacio G.</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_5')">+13 more</a></small></i></span><br><small><a href="https://europepmc.org/article/MED/38111518#free-full-text" target="_blank" rel="nofollow" title="europepmc.org/article/MED/38111518#free-full-text">europepmc</a> </small>   <div id="more_5" style="display:none"><a href="/sci_redir.php?doi=10.25100%2Fcm.v54i3.5353" target="_blank" rel="nofollow">openaccessbutton.org (pdf)</a><br><a href="javascript:navigator.clipboard.writeText('10.25100/cm.v54i3.5353'); alert('Copied the doi');">copy doi</a> <small>(10.25100/cm.v54i3.5353)</small><br></div><small><a href="#" onClick="return toggle_div(this, 'more_5')">+1 more source</a></small><br></div><div class="r"><p class="r_title"><a href="https://doi.org/10.33588/rn.7706.2023185" target="_blank" rel="nofollow">[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].</a> <b><a href="https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC10662185&blobtype=pdf" target="_blank" rel="nofollow">[PDF]</a></b> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Rev Neurol</i>, 2023 </span><br><span class="r_sub"><i>Ortiz-Ortigosa A<span id="ma_6" style="display:none">, Calvo-Medina R, Ruiz-García C, Vera-Medialdea R, Ramos-Fernández JM.</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_6')">+4 more</a></small></i></span><br><small><a href="https://europepmc.org/article/MED/37668235#free-full-text" target="_blank" rel="nofollow" title="europepmc.org/article/MED/37668235#free-full-text">europepmc</a> </small>   <div id="more_6" style="display:none"><a href="/sci_redir.php?doi=10.33588%2Frn.7706.2023185" target="_blank" rel="nofollow">openaccessbutton.org (pdf)</a><br><a href="javascript:navigator.clipboard.writeText('10.33588/rn.7706.2023185'); alert('Copied the doi');">copy doi</a> <small>(10.33588/rn.7706.2023185)</small><br></div><small><a href="#" onClick="return toggle_div(this, 'more_6')">+1 more source</a></small><br></div><div class="r"><p class="r_title"><a href="http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0123-93922010000400003" target="_blank" rel="nofollow">Resistencia a los medicamentos antirretrovirales en pacientes que reciben tratamiento para VIH-sida en Colombia Resistance to antiretrovirals in patients receiving HIV-AIDS therapy in Colombia</a> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Infectio</i>, 2010 </span><br><span class="r_content">Objetivo. Caracterizar el fenómeno de la resistencia a los diferentes medicamentos antirretrovirales en pacientes en quienes se practicó el estudio de genotipificación en Colombia, durante el período 2000-2007. Diseño. Descriptivo, retrospectivo y basado </span><br><span class="r_sub"><i>Sandra M Gómez<span id="ma_7" style="display:none">, Patricia Olaya, Francisco J Díaz</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_7')">+2 more</a></small></i></span><br><small><a href="https://doaj.org/article/e1d2d1314f794efe9548476b8016081b" target="_blank" rel="nofollow" title="doaj.org/article/e1d2d1314f794efe9548476b8016081b">doaj</a> </small>   <br></div><div class="r"><p class="r_title"><a href="http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2011000300002&lng=en&tlng=en" target="_blank" rel="nofollow">Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo</a> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Arquivos Brasileiros de Cardiologia</i>, 2011 </span><br><span class="r_content">FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...</span><br><span class="r_sub"><i>Ernesto Curty<span id="ma_8" style="display:none">, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_8')">+7 more</a></small></i></span><br><small><a href="https://doaj.org/article/0c4a077dd9e54dbcbb51c41a19b21613" target="_blank" rel="nofollow" title="doaj.org/article/0c4a077dd9e54dbcbb51c41a19b21613">doaj</a> </small>   <br></div><div class="r"><p class="r_title"><a href="https://doi.org/10.5281/zenodo.18715493" target="_blank" rel="nofollow">[Sinonasal ameloblastoma: Clinical case presentation and literature review].</a> <b><a href="https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC13196994&blobtype=pdf" target="_blank" rel="nofollow">[PDF]</a></b> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Rev Med Inst Mex Seguro Soc</i></span><br><span class="r_sub"><i>Martínez-Fernández FJ<span id="ma_9" style="display:none">, Juárez-Aguilar FG.</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_9')">+1 more</a></small></i></span><br><small><a href="https://europepmc.org/article/MED/42096278#free-full-text" target="_blank" rel="nofollow" title="europepmc.org/article/MED/42096278#free-full-text">europepmc</a> </small>   <div id="more_9" style="display:none"><a href="/sci_redir.php?doi=10.5281%2Fzenodo.18715493" target="_blank" rel="nofollow">openaccessbutton.org (pdf)</a><br><a href="javascript:navigator.clipboard.writeText('10.5281/zenodo.18715493'); alert('Copied the doi');">copy doi</a> <small>(10.5281/zenodo.18715493)</small><br></div><small><a href="#" onClick="return toggle_div(this, 'more_9')">+1 more source</a></small><br></div><div class="r"><p class="r_title"><a href="https://doi.org/10.1016/j.aprim.2025.103370" target="_blank" rel="nofollow">[Mitochondrial diabetes: From suspicion in primary care to a multidisciplinary family approach].</a> <b><a href="https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC12537476&blobtype=pdf" target="_blank" rel="nofollow">[PDF]</a></b> </p><span class="r_subtitle"><img src="/img/openaccess.ico" alt="open access: yes" title="open access: yes" width="16" height="16"><i>Aten Primaria</i></span><br><span class="r_sub"><i>Macías Martínez BA<span id="ma_10" style="display:none">, Dalmau Vila A, Hernández García M, Lafarga Giribets MA.</span>   <small><a href="#" style="color:#808080;" onClick="return toggle_div(this, 'ma_10')">+3 more</a></small></i></span><br><small><a href="https://europepmc.org/article/MED/41056809#free-full-text" target="_blank" rel="nofollow" title="europepmc.org/article/MED/41056809#free-full-text">europepmc</a> </small>   <div id="more_10" style="display:none"><a href="/sci_redir.php?doi=10.1016%2Fj.aprim.2025.103370" target="_blank" rel="nofollow">openaccessbutton.org (pdf)</a><br><a href="javascript:navigator.clipboard.writeText('10.1016/j.aprim.2025.103370'); alert('Copied the doi');">copy doi</a> <small>(10.1016/j.aprim.2025.103370)</small><br></div><small><a href="#" onClick="return toggle_div(this, 'more_10')">+1 more source</a></small><br></div><div class="r"><div style="margin-bottom:2px;overflow:hidden"><div style="display: inline-block; float: left; font-size: small; padding-right: 16px; margin-top: -1px; padding-bottom: 1px;"><a href="/q-mutation/" class="suggestion"onclick="show_loader();"><b>mutation</b></a><br/><a href="/q-gen%C3%A9tica/" class="suggestion"onclick="show_loader();"><b>genética</b></a><br/><a href="/q-migra%C3%B1a/" class="suggestion"onclick="show_loader();"><b>migraña</b></a><br/></div><div style="display: inline-block; float: left; font-size: small; padding-right: 16px; margin-top: -1px; padding-bottom: 1px;"><a href="/q-adn/" class="suggestion"onclick="show_loader();"><b>adn</b></a><br/><a href="/q-arn/" class="suggestion"onclick="show_loader();"><b>arn</b></a><br/></div></div></div><div class="pagenav"><a href="/q-mutaci%C3%B3n/p-5/" rel="nofollow"><b>previous</b></a>   <a href="/q-mutaci%C3%B3n/p-4/" rel="nofollow">4</a>  <a href="/q-mutaci%C3%B3n/p-5/" rel="nofollow">5</a>  <b>6</b>  <a href="/q-mutaci%C3%B3n/p-7/" rel="nofollow">7</a>  <a href="/q-mutaci%C3%B3n/p-8/" rel="nofollow">8</a>   <a href="/q-mutaci%C3%B3n/p-7/" id="next" rel="nofollow"><b>next</b></a> </div><br></div> </div> <script>document.getElementById('loadingGif').style.display='none';</script><div style="width: 100%; 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