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Year | Number of Results |
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2019 | 1 |
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9.
Pediatr Nephrol. 2019.
PMID: 29987460
Free article.
Review.
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. NGS approaches have identified novel combinatio …
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, compleme …
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
Rabbolini DJ, Chun Y, Latimer M, Kunishima S, Fixter K, Valecha B, Tan P, Chew LP, Kile BT, Burt R, Radhakrishnan K, Bird R, Ockelford P, Gabrielli S, Chen Q, Stevenson WS, Ward CM, Morel-Kopp MC.
Rabbolini DJ, et al.
Platelets. 2018 Dec;29(8):793-800. doi: 10.1080/09537104.2017.1356920. Epub 2017 Nov 1.
Platelets. 2018.
PMID: 29090586
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA (NMMHC-IIA), an important motor protein in hemopoietic cells, are the most commonly encountered cause of inherited macrothrombocytopenia. ...
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA ( …
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Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
Okano S, Takase M, Iseki K, Toriumi N, Kaneda M, Kunishima S.
Okano S, et al.
J Pediatr Hematol Oncol. 2015 Aug;37(6):e352-5. doi: 10.1097/MPH.0000000000000379.
J Pediatr Hematol Oncol. 2015.
PMID: 26056797
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MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.
Pecci A, et al.
Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.
Hum Mutat. 2014.
PMID: 24186861
Free PMC article.
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