Results 141 to 150 of about 3,635 (200)

遺伝性macrothrombocytopenia

Rinsho Ketsueki, 1998
KASAHARA, Kaoru, TAKAHASHI, Tohru, HAMAMOTO, Fumie, HAYASHI, Toshiaki, ADACHI, Masaaki, OKUDA, Hirosuke, SATOH, Shuji, HINODA, Yuji, IMAI, Kohzoh   +8 more
openaire   +1 more source

Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression. [PDF]

J Clin Invest
Stapley RJ, Sawkulycz X, Araujo GHM, Englert M, Garcia-Quintanilla L, Smith SR, Ahmed A, Haining EJ, Kaur N, Bacon A, Pisarev AV, Poulter NS, Kavanagh D, Thomas SG, Montague SJ, Rayes J, Nagy Z, Morgan NV.   +17 more
europepmc   +1 more source

Case Report: A Chinese family with MYH9-RD caused by <i>MYH9</i> p.E1841K mutation exhibiting widespread may-hegglin inclusions. [PDF]

Front Pediatr
Lian X, Li H, Hao J, Li H, Xu L, Zhang S, Cao L, Li R.   +7 more
europepmc   +1 more source

Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis.

Haematologica, 2002
FABRIS, FABRIZIO, FAGIOLI F., BASSO, GIUSEPPE, GIROLAMI A.   +3 more
openaire   +2 more sources

Blocking platelet glycoprotein V cleavage reduces bleeding in mouse models of <i>MYH9</i>-related disease. [PDF]

Haematologica
Öftering P, Baumann J, Beck S, Greinacher A, Nieswandt B, Bender M.   +5 more
europepmc   +1 more source

The audiological phenotype of patients with a variant in MYH9 and MYH14 genes. [PDF]

Sci Rep
Bae SH, Joo SY, Jang SH, Kim SH, Choi JY, Won D, Gee HY, Jung J.   +7 more
europepmc   +1 more source

α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis. [PDF]

Biomedicines
Wu L, Song Z, Zhou Y, Huang J, Huang X.
europepmc   +1 more source

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia. [PDF]

J Clin Immunol
Kristal E, Khalaila A, Asleh M, Quider AA, Eshel YD, Mahdi NE, Hadad N, Almashanu S, Miskin H, Staretz-Chacham O, Ben-Harosh M.   +10 more
europepmc   +1 more source

Is genetic testing for heritable thrombocytopenia coming of age? [PDF]

Res Pract Thromb Haemost
Gomez K.
europepmc   +1 more source