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10.1002/ajmg.a.38603 http://scihub22266oqcxt.onion/10.1002/ajmg.a.38603 C5838508!5838508 !29359884     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29359884 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29359884 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Med+Genet+A 2018 ; 176 (3 ): 597-608 Nephropedia Template TP {{tp|p=29359884 |t=2018. Benign and malignant tumors in Rubinstein-Taybi syndrome |pdf=|usr=}}{{29359884 }} gab.com Text Benign and malignant tumors in Rubinstein-Taybi syndrome JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=29359884 #FOAvip Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n?=?87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population-based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large-cell B-cell lymphoma; breast cancer; non-small cell lung carcinoma; colon carcinoma). No clear genotype-phenotype correlation became evident. The Dutch population-based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed. Twit Text FOAVip Benign and malignant tumors in Rubinstein-Taybi syndrome ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=29359884 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29359884 #FOAvip English Wikipedia <ref>{{Cite pmid|29359884 }}</ref> Benign and malignant tumors in Rubinstein-Taybi syndrome #MMPMID29359884 Boot MV ; van Belzen MJ ; Overbeek LI ; Hijmering N ; Mendeville M ; Waisfisz Q ; Wesseling P ; Hennekam RC ; de Jong D Am J Med Genet A 2018[Mar]; 176 (3 ): 597-608 PMID29359884 show ga Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n?=?87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population-based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large-cell B-cell lymphoma; breast cancer; non-small cell lung carcinoma; colon carcinoma). No clear genotype-phenotype correlation became evident. The Dutch population-based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed. |Adolescent [MESH] |Adult [MESH] |Biomarkers, Tumor [MESH] |Child [MESH] |Child, Preschool [MESH] |E1A-Associated p300 Protein/genetics [MESH] |Female [MESH] |Genetic Association Studies [MESH] |Genetic Predisposition to Disease [MESH] |Genetic Variation [MESH] |Humans [MESH] |Incidence [MESH] |Male [MESH] |Middle Aged [MESH] |Neoplasm Grading [MESH] |Neoplasms/diagnosis/*epidemiology/*etiology [MESH] |Netherlands/epidemiology [MESH] |Registries [MESH] |Rubinstein-Taybi Syndrome/*complications/diagnosis/*epidemiology [MESH]Benign and malignant tumors in Rubinstein-Taybi syndrome (epmc).pdf DeepDyve Pubget Overpricing