FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149805616> ?p ?o ?g. }

• W2149805616 endingPage "656" @default.
• W2149805616 startingPage "649" @default.
• W2149805616 abstract "El Síndrome de Prader-Willi (SPW) es una enfermedad genética que se caracteriza por hipotonía neonatal, hipogonadismo, hiperfagia que conduce a obesidad, estatura baja, retraso en el desarrollo, retraso mental moderado, alteración del comportamiento y apariencia facial característica. Se origina por la pérdida o inactivación de genes de expresión paterna incluidos en la región 15q11-13 regulada por impronta genómica. Existen diferentes causas genéticas: deleción de la región 15q11-q13 de origen paterno en el 70% de los pacientes, disomía uniparental materna en el 20-25% y menos de un 5% presenta defecto de impronta. Se presentan los resultados obtenidos en el estudio transversal clínico-genético de 77 pacientes SPW. Se ha realizado el estudio de 374 pacientes con sospecha de SPW. Se emplean técnicas citogenéticas de cariotipo con bandas G e hibridación in situ fluorescente (FISH) y técnicas moleculares de microsatélites, Southern blot, MS-PCR y secuenciación. Se emplean los criterios de Holm para la correlación fenotipo-genotipo en 48 pacientes. Se confirma el diagnóstico de SPW en 77 pacientes, 46 con deleción, 16 con disomía uniparental, 2 con defecto de impronta y 13 con solo un patrón de metilación SPW. No se observan diferencias significativas en la correlación fenotipo –genotipo. Las frecuencias de las alteraciones moleculares, 71,87% deleción, 25% DUPmat y 3,12% DI, son similares a las descritas en la literatura. Se presenta el algoritmo de diagnóstico utilizado con la MS-PCR como técnica rápida para confirmar el diagnóstico de SPW. The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, developmental delay, moderate mental retardation, abnormal behavior and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients. There has been realized the study of 374 suspected PWS patients. Cytogenetics studies of bands G and hybridization in situ fluorescent (FISH) and molecular genetics analysis of microsatellites, Southern blot, MS-PCR and sequenciation were carried out. Holm's criteria use for the correlation phenotype - genotype in 48 patients. PWS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype. The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS." @default.
• W2149805616 created "2016-06-24" @default.
• W2149805616 creator A5003005170 @default.
• W2149805616 creator A5008095121 @default.
• W2149805616 creator A5043376754 @default.
• W2149805616 creator A5067108557 @default.
• W2149805616 creator A5069474918 @default.
• W2149805616 creator A5079861467 @default.
• W2149805616 creator A5081309115 @default.
• W2149805616 date "2009-11-01" @default.
• W2149805616 modified "2023-10-01" @default.
• W2149805616 title "Síndrome de Prader Willi: estudio de 77 pacientes" @default.
• W2149805616 cites W1603845304 @default.
• W2149805616 cites W1964445867 @default.
• W2149805616 cites W1969179580 @default.
• W2149805616 cites W1973861950 @default.
• W2149805616 cites W1983080819 @default.
• W2149805616 cites W2008285304 @default.
• W2149805616 cites W2010043305 @default.
• W2149805616 cites W2012532817 @default.
• W2149805616 cites W2013498101 @default.
• W2149805616 cites W2014534727 @default.
• W2149805616 cites W2017337766 @default.
• W2149805616 cites W2019727430 @default.
• W2149805616 cites W2021161813 @default.
• W2149805616 cites W2038512034 @default.
• W2149805616 cites W2041623568 @default.
• W2149805616 cites W2042813335 @default.
• W2149805616 cites W2049036114 @default.
• W2149805616 cites W2049423176 @default.
• W2149805616 cites W2054951076 @default.
• W2149805616 cites W2061019229 @default.
• W2149805616 cites W2064937927 @default.
• W2149805616 cites W2065899830 @default.
• W2149805616 cites W2066324781 @default.
• W2149805616 cites W2089548634 @default.
• W2149805616 cites W2094215765 @default.
• W2149805616 cites W2097330821 @default.
• W2149805616 cites W2097413179 @default.
• W2149805616 cites W2114957217 @default.
• W2149805616 cites W2115212748 @default.
• W2149805616 cites W2118929226 @default.
• W2149805616 cites W2130680376 @default.
• W2149805616 cites W2135949952 @default.
• W2149805616 cites W2143936008 @default.
• W2149805616 cites W2158865983 @default.
• W2149805616 cites W2169243271 @default.
• W2149805616 cites W4253876192 @default.
• W2149805616 doi "https://doi.org/10.1016/j.medcli.2009.04.051" @default.
• W2149805616 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19748638" @default.
• W2149805616 hasPublicationYear "2009" @default.
• W2149805616 type Work @default.
• W2149805616 sameAs 2149805616 @default.
• W2149805616 citedByCount "2" @default.
• W2149805616 crossrefType "journal-article" @default.
• W2149805616 hasAuthorship W2149805616A5003005170 @default.
• W2149805616 hasAuthorship W2149805616A5008095121 @default.
• W2149805616 hasAuthorship W2149805616A5043376754 @default.
• W2149805616 hasAuthorship W2149805616A5067108557 @default.
• W2149805616 hasAuthorship W2149805616A5069474918 @default.
• W2149805616 hasAuthorship W2149805616A5079861467 @default.
• W2149805616 hasAuthorship W2149805616A5081309115 @default.
• W2149805616 hasConcept C142362112 @default.
• W2149805616 hasConcept C15708023 @default.
• W2149805616 hasConcept C29456083 @default.
• W2149805616 hasConcept C71924100 @default.
• W2149805616 hasConceptScore W2149805616C142362112 @default.
• W2149805616 hasConceptScore W2149805616C15708023 @default.
• W2149805616 hasConceptScore W2149805616C29456083 @default.
• W2149805616 hasConceptScore W2149805616C71924100 @default.
• W2149805616 hasIssue "17" @default.
• W2149805616 hasLocation W21498056161 @default.
• W2149805616 hasLocation W21498056162 @default.
• W2149805616 hasOpenAccess W2149805616 @default.
• W2149805616 hasPrimaryLocation W21498056161 @default.
• W2149805616 hasRelatedWork W1995515455 @default.
• W2149805616 hasRelatedWork W1999344589 @default.
• W2149805616 hasRelatedWork W2039318446 @default.
• W2149805616 hasRelatedWork W2080531066 @default.
• W2149805616 hasRelatedWork W2748952813 @default.
• W2149805616 hasRelatedWork W2789448498 @default.
• W2149805616 hasRelatedWork W2899084033 @default.
• W2149805616 hasRelatedWork W3031052312 @default.
• W2149805616 hasRelatedWork W3032375762 @default.
• W2149805616 hasRelatedWork W3108674512 @default.
• W2149805616 hasVolume "133" @default.
• W2149805616 isParatext "false" @default.
• W2149805616 isRetracted "false" @default.
• W2149805616 magId "2149805616" @default.
• W2149805616 workType "article" @default.