FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W31449727> ?p ?o ?g. }

• W31449727 endingPage "415" @default.
• W31449727 startingPage "412" @default.
• W31449727 abstract "Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient’s father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes." @default.
• W31449727 created "2016-06-24" @default.
• W31449727 creator A5021194298 @default.
• W31449727 creator A5044245108 @default.
• W31449727 creator A5056131240 @default.
• W31449727 creator A5061352697 @default.
• W31449727 creator A5062379941 @default.
• W31449727 creator A5067566240 @default.
• W31449727 creator A5070118520 @default.
• W31449727 creator A5070229435 @default.
• W31449727 creator A5075242670 @default.
• W31449727 creator A5076169089 @default.
• W31449727 date "2012-08-01" @default.
• W31449727 modified "2023-09-23" @default.
• W31449727 title "MYH9-related Disorders" @default.
• W31449727 cites W1974589316 @default.
• W31449727 cites W1989726345 @default.
• W31449727 cites W2003806098 @default.
• W31449727 cites W2005048940 @default.
• W31449727 cites W2019424112 @default.
• W31449727 cites W2030029307 @default.
• W31449727 cites W2032486197 @default.
• W31449727 cites W2040600686 @default.
• W31449727 cites W2049327103 @default.
• W31449727 cites W2052002407 @default.
• W31449727 cites W2058021964 @default.
• W31449727 cites W2058469887 @default.
• W31449727 cites W2081165832 @default.
• W31449727 cites W2081541720 @default.
• W31449727 cites W2095454573 @default.
• W31449727 cites W2133788606 @default.
• W31449727 cites W2142383036 @default.
• W31449727 cites W2157912873 @default.
• W31449727 cites W2159446541 @default.
• W31449727 cites W2168383897 @default.
• W31449727 cites W2168454062 @default.
• W31449727 cites W2270669221 @default.
• W31449727 cites W2413578523 @default.
• W31449727 cites W4253577731 @default.
• W31449727 cites W1995402918 @default.
• W31449727 doi "https://doi.org/10.1097/mph.0b013e318257a64b" @default.
• W31449727 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22627578" @default.
• W31449727 hasPublicationYear "2012" @default.
• W31449727 type Work @default.
• W31449727 sameAs 31449727 @default.
• W31449727 citedByCount "5" @default.
• W31449727 countsByYear W314497272015 @default.
• W31449727 countsByYear W314497272017 @default.
• W31449727 countsByYear W314497272019 @default.
• W31449727 crossrefType "journal-article" @default.
• W31449727 hasAuthorship W31449727A5021194298 @default.
• W31449727 hasAuthorship W31449727A5044245108 @default.
• W31449727 hasAuthorship W31449727A5056131240 @default.
• W31449727 hasAuthorship W31449727A5061352697 @default.
• W31449727 hasAuthorship W31449727A5062379941 @default.
• W31449727 hasAuthorship W31449727A5067566240 @default.
• W31449727 hasAuthorship W31449727A5070118520 @default.
• W31449727 hasAuthorship W31449727A5070229435 @default.
• W31449727 hasAuthorship W31449727A5075242670 @default.
• W31449727 hasAuthorship W31449727A5076169089 @default.
• W31449727 hasConcept C104317684 @default.
• W31449727 hasConcept C127716648 @default.
• W31449727 hasConcept C135763542 @default.
• W31449727 hasConcept C142724271 @default.
• W31449727 hasConcept C2779134260 @default.
• W31449727 hasConcept C2780493683 @default.
• W31449727 hasConcept C2780607864 @default.
• W31449727 hasConcept C501734568 @default.
• W31449727 hasConcept C54355233 @default.
• W31449727 hasConcept C548259974 @default.
• W31449727 hasConcept C71924100 @default.
• W31449727 hasConcept C86803240 @default.
• W31449727 hasConceptScore W31449727C104317684 @default.
• W31449727 hasConceptScore W31449727C127716648 @default.
• W31449727 hasConceptScore W31449727C135763542 @default.
• W31449727 hasConceptScore W31449727C142724271 @default.
• W31449727 hasConceptScore W31449727C2779134260 @default.
• W31449727 hasConceptScore W31449727C2780493683 @default.
• W31449727 hasConceptScore W31449727C2780607864 @default.
• W31449727 hasConceptScore W31449727C501734568 @default.
• W31449727 hasConceptScore W31449727C54355233 @default.
• W31449727 hasConceptScore W31449727C548259974 @default.
• W31449727 hasConceptScore W31449727C71924100 @default.
• W31449727 hasConceptScore W31449727C86803240 @default.
• W31449727 hasIssue "6" @default.
• W31449727 hasLocation W314497271 @default.
• W31449727 hasLocation W314497272 @default.
• W31449727 hasOpenAccess W31449727 @default.
• W31449727 hasPrimaryLocation W314497271 @default.
• W31449727 hasRelatedWork W138964897 @default.
• W31449727 hasRelatedWork W1530402712 @default.
• W31449727 hasRelatedWork W1946787458 @default.
• W31449727 hasRelatedWork W2104622833 @default.
• W31449727 hasRelatedWork W2132993604 @default.
• W31449727 hasRelatedWork W2143066563 @default.
• W31449727 hasRelatedWork W2157166663 @default.
• W31449727 hasRelatedWork W2276789630 @default.
• W31449727 hasRelatedWork W2574921060 @default.

• next