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10.1155/2018/7813591 http://scihub22266oqcxt.onion/10.1155/2018/7813591 C5896320!5896320!29796323     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Case+Rep+Endocrinol 2018 ; 2018 (ä): ä Nephropedia Template TP {{tp|p=29796323|t=2018. Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |pdf=|usr=}}{{29796323}} gab.com Text Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a JO: Case Rep Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=29796323 #FOAvip Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. Materials and Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). Conclusion: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously. Twit Text FOAVip Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a ????Case Rep Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=29796323 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29796323 #FOAvip English Wikipedia <ref>{{Cite pmid|29796323}}</ref> Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a #MMPMID29796323 Moutinho A; Carvalho R; Ferreira Reis R; Tavares S Case Rep Endocrinol 2018[]; 2018 (ä): ä PMID29796323show ga Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. Materials and Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). Conclusion: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously. äIdentification of a Novel Mutation in a Family with Pseudohypoparathyr(epmc).pdf DeepDyve Pubget Overpricing