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Results: 1 to 20 of 36

Select item 234708451.

Association between a MYH9 polymorphism (rs3752462) and renal function in the Spanish RENASTUR cohort.

Tavira B, Coto E, Gómez J, Tranche S, Miguélez K, Ortega F, Díez B, Sánchez E, Marín R, Arenas J, Alvarez V.

Gene. 2013 May 10;520(1):73-6. doi: 10.1016/j.gene.2013.02.024. Epub 2013 Mar 5.

PMID:: 23470845; [PubMed - indexed for MEDLINE]

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Select item 232850772.

Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.

Matsha TE, Masconi K, Yako YY, Hassan MS, Macharia M, Erasmus RT, Kengne AP.

PLoS One. 2012;7(12):e52529. doi: 10.1371/journal.pone.0052529. Epub 2012 Dec 20.

PMID:: 23285077; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 232075093.

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, Bai X, Ruan CG.

Acta Haematol. 2013;129(2):106-13. doi: 10.1159/000342123. Epub 2012 Nov 27.

PMID:: 23207509; [PubMed - indexed for MEDLINE]

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Select item 231233194.

De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A.

Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30.

PMID:: 23123319; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 230073415.

Report of a young girl with MYH9 mutation and review of the literature.

Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, Thornburg CD.

J Pediatr Hematol Oncol. 2012 Oct;34(7):538-40. Review.

PMID:: 23007341; [PubMed - indexed for MEDLINE]

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Select item 229824786.

G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: comment on "A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.

Kunishima S, Tomii T, Kudo K, Saito H.

Eur J Med Genet. 2012 Dec;55(12):763-5. doi: 10.1016/j.ejmg.2012.09.001. Epub 2012 Sep 11. No abstract available.

PMID:: 22982478; [PubMed - indexed for MEDLINE]

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Select item 229523217.

Collapsing glomerulopathy associated lupus in a black female with homozygous APOL1 mutation.

Kofman T, Narjoz C, Raimbourg Q, Loriot MA, Karras A, Roland M, Hill G, Jacquot C, Nochy D, Thervet E.

Lupus. 2012 Nov;21(13):1459-62. doi: 10.1177/0961203312460114. Epub 2012 Sep 5.

PMID:: 22952321; [PubMed - indexed for MEDLINE]

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Select item 228985998.

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression.

Bluteau D, Glembotsky AC, Raimbault A, Balayn N, Gilles L, Rameau P, Nurden P, Alessi MC, Debili N, Vainchenker W, Heller PG, Favier R, Raslova H.

Blood. 2012 Sep 27;120(13):2708-18. Epub 2012 Aug 16.

PMID:: 22898599; [PubMed - indexed for MEDLINE]

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Select item 228865619.

Genetics of familial forms of thrombocytopenia.

Balduini CL, Savoia A.

Hum Genet. 2012 Dec;131(12):1821-32. doi: 10.1007/s00439-012-1215-x. Epub 2012 Aug 11. Review.

PMID:: 22886561; [PubMed - indexed for MEDLINE]

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Select item 2283251310.

Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans.

Lipkowitz MS, Freedman BI, Langefeld CD, Comeau ME, Bowden DW, Kao WH, Astor BC, Bottinger EP, Iyengar SK, Klotman PE, Freedman RG, Zhang W, Parekh RS, Choi MJ, Nelson GW, Winkler CA, Kopp JB; SK Investigators.

Kidney Int. 2013 Jan;83(1):114-20. doi: 10.1038/ki.2012.263. Epub 2012 Jul 25.

PMID:: 22832513; [PubMed - indexed for MEDLINE]

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Select item 2282142711.

Transient hemiparesis in a 14-year-old boy with MYH9 disorders.

Kitamura K, Kunishima S, Tahara M, Ogiwara S, Dobata N, Dobata T, Sugihara A, Nakashima T, Sasaki Y, Nagumo K, Kubota M, Kinugawa Y, Ieko M, Kumaki S.

Int J Hematol. 2012 Sep;96(3):376-9. doi: 10.1007/s12185-012-1149-z. Epub 2012 Jul 22. No abstract available.

PMID:: 22821427; [PubMed - indexed for MEDLINE]

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Select item 2272219312.

Whole-genome analysis informs breast cancer response to aromatase inhibition.

Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, Van Tine BA, Hoog J, Goiffon RJ, Goldstein TC, Ng S, Lin L, Crowder R, Snider J, Ballman K, Weber J, Chen K, Koboldt DC, Kandoth C, Schierding WS, McMichael JF, Miller CA, Lu C, Harris CC, McLellan MD, Wendl MC, DeSchryver K, Allred DC, Esserman L, Unzeitig G, Margenthaler J, Babiera GV, Marcom PK, Guenther JM, Leitch M, Hunt K, Olson J, Tao Y, Maher CA, Fulton LL, Fulton RS, Harrison M, Oberkfell B, Du F, Demeter R, Vickery TL, Elhammali A, Piwnica-Worms H, McDonald S, Watson M, Dooling DJ, Ota D, Chang LW, Bose R, Ley TJ, Piwnica-Worms D, Stuart JM, Wilson RK, Mardis ER.

Nature. 2012 Jun 10;486(7403):353-60. doi: 10.1038/nature11143.

PMID:: 22722193; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2269354613.

Sequence-specific binding of recombinant Zbed4 to DNA: insights into Zbed4 participation in gene transcription and its association with other proteins.

Mokhonov VV, Theendakara VP, Gribanova YE, Ahmedli NB, Farber DB.

PLoS One. 2012;7(5):e35317. doi: 10.1371/journal.pone.0035317. Epub 2012 May 31.

PMID:: 22693546; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2267236514.

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.

Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG.

J Thromb Haemost. 2012 Aug;10(8):1653-61. doi: 10.1111/j.1538-7836.2012.04805.x.

PMID:: 22672365; [PubMed - indexed for MEDLINE]

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Select item 2263156815.

Adams-Oliver syndrome and familial MYH9 mutation.

Uyeda T, Echizenya T, Eto S, Ohtani K, Sato T, Takahashi T, Ito E, Yonesaka S, Kunishima S.

Pediatr Int. 2012 Jun;54(3):407-9. doi: 10.1111/j.1442-200X.2011.03466.x. No abstract available.

PMID:: 22631568; [PubMed - indexed for MEDLINE]

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Select item 2262757816.

Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI.

J Pediatr Hematol Oncol. 2012 Aug;34(6):412-5. doi: 10.1097/MPH.0b013e318257a64b.

PMID:: 22627578; [PubMed - indexed for MEDLINE]

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Select item 2261462817.

Novel findings and future directions on the genetics of hypertension.

Simino J, Rao DC, Freedman BI.

Curr Opin Nephrol Hypertens. 2012 Sep;21(5):500-7. doi: 10.1097/MNH.0b013e328354e78f. Review.

PMID:: 22614628; [PubMed - indexed for MEDLINE]

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Select item 2255829418.

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; Italian Registry for MYH9-releated diseases.

PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986. Epub 2012 Apr 25.

PMID:: 22558294; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2247701519.

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.

Jang MJ, Park HJ, Chong SY, Huh JY, Kim IH, Jang JH, Kim HJ, Oh D.

Yonsei Med J. 2012 May;53(3):662-6. doi: 10.3349/ymj.2012.53.3.662.

PMID:: 22477015; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2239856520.

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation.

Pecci A, Barozzi S, d'Amico S, Balduini CL.

Thromb Haemost. 2012 Jun;107(6):1188-9. doi: 10.1160/TH12-01-0005. Epub 2012 Mar 8. No abstract available.

PMID:: 22398565; [PubMed - indexed for MEDLINE]

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12 free full-text articles in PubMed Central

Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa. [PLoS One. 2012]
Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.
Matsha TE, Masconi K, Yako YY, Hassan MS, Macharia M, Erasmus RT, Kengne AP. PLoS One. 2012; 7(12):e52529. Epub 2012 Dec 20.
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. [Eur J Med Genet. 2013]
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, et al. Eur J Med Genet. 2013 Jan; 56(1):7-12. Epub 2012 Oct 30.
Whole-genome analysis informs breast cancer response to aromatase inhibition. [Nature. 2012]
Whole-genome analysis informs breast cancer response to aromatase inhibition.
Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, Van Tine BA, Hoog J, Goiffon RJ, Goldstein TC, et al. Nature. 2012 Jun 10; 486(7403):353-60. Epub 2012 Jun 10.

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