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Items: 18

1.

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, Song X, Lin J, Du R, Zhou Y, Sugimoto M, Chen W, Yuan B, Liu J, Yan Z, Liu B, Zhang Y, Li X, Niu Y, Long B, Shen Y, Zhang S, Abe K, Su J, Wu Z, Wu N, Liu P, Yang X; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study.

J Hum Genet. 2018 Nov;63(11):1119-1128. doi: 10.1038/s10038-018-0496-x. Epub 2018 Aug 16.

PMID:
30115950
2.

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.

Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A.

Hamostaseologie. 2019 Feb;39(1):87-94. doi: 10.1055/s-0038-1645840. Epub 2018 Jul 11.

PMID:
29996171
3.

MYH9 gene mutations associated with bleeding.

Savoia A, De Rocco D, Pecci A.

Platelets. 2017 May;28(3):312-315. doi: 10.1080/09537104.2017.1294250. Epub 2017 Apr 3. No abstract available.

PMID:
28368695
4.

Asymmetric division of contractile domains couples cell positioning and fate specification.

Maître JL, Turlier H, Illukkumbura R, Eismann B, Niwayama R, Nédélec F, Hiiragi T.

Nature. 2016 Aug 18;536(7616):344-348. doi: 10.1038/nature18958. Epub 2016 Aug 3.

5.

PreImplantation factor (PIF*) regulates systemic immunity and targets protective regulatory and cytoskeleton proteins.

Barnea ER, Hayrabedyan S, Todorova K, Almogi-Hazan O, Or R, Guingab J, McElhinney J, Fernandez N, Barder T.

Immunobiology. 2016 Jul;221(7):778-93. doi: 10.1016/j.imbio.2016.02.004. Epub 2016 Feb 23.

PMID:
26944449
6.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A.

Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.

PMID:
26226608
7.

MYH9-Related Disorders.

Savoia A, Pecci A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Nov 20 [updated 2015 Jul 16].

8.

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.

Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL.

Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2.

9.

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.

Clin Genet. 2015 Jul;88(1):85-9. doi: 10.1111/cge.12438. Epub 2014 Jul 26.

PMID:
24890873
10.

May-Hegglin anomaly and pregnancy: a systematic review.

Hussein BA, Gomez K, Kadir RA.

Blood Coagul Fibrinolysis. 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. Review.

PMID:
23811802
11.

R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.

Sung CC, Lin SH, Chao TK, Chen YC.

J Formos Med Assoc. 2014 Jan;113(1):56-9. doi: 10.1016/j.jfma.2012.07.024. Epub 2013 Jun 10.

12.

COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.

Strasser K, Hoefele J, Bergmann C, Büscher AK, Büscher R, Hoyer PF, Weber S.

Nephrol Dial Transplant. 2012 Nov;27(11):4236-40. doi: 10.1093/ndt/gfs468.

PMID:
23144074
13.

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, 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.

14.

Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China.

Jia ZL, Li Y, Chen CH, Li S, Wang Y, Zheng Q, Shi B.

DNA Cell Biol. 2010 Jan;29(1):25-32. doi: 10.1089/dna.2009.0935.

PMID:
19891592
15.

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

de Rocco D, Heller PG, Girotto G, Pastore A, Glembotsky AC, Marta RF, Bozzi V, Pecci A, Molinas FC, Savoia A.

Platelets. 2009 Dec;20(8):598-602. doi: 10.3109/09537100903349620.

PMID:
19860543
16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
17.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

De Rocco D, Pujol-Moix N, Pecci A, Faletra F, Bozzi V, Balduini CL, Savoia A.

Eur J Med Genet. 2009 Jul-Aug;52(4):191-4. doi: 10.1016/j.ejmg.2009.01.006. Epub 2009 Feb 9.

PMID:
19450438
18.

A novel model of autosomal dominant Alport syndrome in Dalmatian dogs.

Hood JC, Huxtable C, Naito I, Smith C, Sinclair R, Savige J.

Nephrol Dial Transplant. 2002 Dec;17(12):2094-8.

PMID:
12454218

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