相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
Daniela De Rocco et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data
Ginevra Biino et al.
PLOS ONE (2013)
Diagnosis and Management of Inherited Thrombocytopenias
Carlo Luigi Balduini et al.
SEMINARS IN THROMBOSIS AND HEMOSTASIS (2013)
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia
Vittorio Necchi et al.
THROMBOSIS AND HAEMOSTASIS (2013)
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A
Yingfan Zhang et al.
BLOOD (2012)
Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression
Dominique Bluteau et al.
BLOOD (2012)
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological
Ginevra Biino et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb alpha (Bolzano mutation)
Patrizia Noris et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome
Vittorio Necchi et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Genetics of familial forms of thrombocytopenia
Carlo L. Balduini et al.
HUMAN GENETICS (2012)
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
A. C. Glembotsky et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation
Alessandro Pecci et al.
THROMBOSIS AND HAEMOSTASIS (2012)
Blood platelet production and morphology
Alessandro Malara et al.
THROMBOSIS RESEARCH (2012)
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
Tommaso Pippucci et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia
Dominique Bluteau et al.
BLOOD (2011)
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
Paquita Nurden et al.
BLOOD (2011)
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
Patrizia Noris et al.
BLOOD (2011)
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias
Carlo L. Balduini et al.
BRITISH JOURNAL OF HAEMATOLOGY (2011)
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations
Anna Savoia et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits
Ginevra Biino et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
White blood cell count, sex and age are major determinants of heterogeneity of platelet indices in an adult general population: results from the MOLI-SANI project
Iolanda Santimone et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Familial myelodysplastic syndromes: a review of the literature
Elena Liew et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro
Alessandra Balduini et al.
PLATELETS (2011)
Proteasome Particle-Rich Structures Are Widely Present in Human Epithelial Neoplasms: Correlative Light, Confocal and Electron Microscopy Study
Vittorio Necchi et al.
PLOS ONE (2011)
Congenital Amegakaryocytic Thrombocytopenia
Amy E. Geddis
PEDIATRIC BLOOD & CANCER (2011)
Glanzmann Thrombasthenia-Like Syndromes Associated with Macrothrombocytopenias and Mutations in the Genes Encoding the αIIbβ3 Integrin
Alan T. Nurden et al.
SEMINARS IN THROMBOSIS AND HEMOSTASIS (2011)
Thrombocytopenias Due to Gray Platelet Syndrome or THC2 Mutations
Jorge Di Paola et al.
SEMINARS IN THROMBOSIS AND HEMOSTASIS (2011)
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations
Alessandro Pecci et al.
BLOOD (2010)
Proximal Radio-ulnar Synostosis With Bone Marrow Failure Syndrome in an Infant Without a HOXA11 Mutation
Paul Castillo-Caro et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2010)
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia
F. Punzo et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2010)
In Vivo Accumulation of Helicobacter pylori Products, NOD1, Ubiquitinated Proteins and Proteasome in a Novel Cytoplasmic Structure
Vittorio Necchi et al.
PLOS ONE (2010)
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
Anna Savoia et al.
THROMBOSIS AND HAEMOSTASIS (2010)
Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly
Shinji Kunishima et al.
BLOOD (2009)
In vivo inactivation of MASTL kinase results in thrombocytopenia
H. Jan Johnson et al.
EXPERIMENTAL HEMATOLOGY (2009)
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome
Catherine Strassel et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2009)
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano
A. Balduini et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2009)
Jacobsen syndrome
Teresa Mattina et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
Carolyn J. Owen et al.
BLOOD (2008)
Wiskott-Aldrich syndrome
Luigi D. Notarangelo et al.
CURRENT OPINION IN HEMATOLOGY (2008)
Clinical phenotype of germline RUNX1 haploinsufficiency:: from point mutations to large genomic deletions
Mylene Beri-Dexheimer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Human phenotypes associated with GATA-1 mutations
Wendy A. Ciovacco et al.
GENE (2008)
Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant
Silvia Vettore et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
Alessandro Pecci et al.
HUMAN MUTATION (2008)
Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes
A. Balduini et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2008)
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
Ian M. Morison et al.
NATURE GENETICS (2008)
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
Zhao Chen et al.
BLOOD (2007)
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles
Christina J. Matheny et al.
EMBO JOURNAL (2007)
Glycoprotein Ibα forms disulfide bonds with 2 glycoprotein Ibβ subunits in the resting platelet
Shi-Zhong Luo et al.
BLOOD (2007)
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
Francois Lanza
ORPHANET JOURNAL OF RARE DISEASES (2006)
Novel heterozygous missense mutation in the second leucine rich repeat of GPIbα affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura
S Kunishima et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2006)
Platelet counts differ by sex, ethnicity, and age in the United States
JB Segal et al.
ANNALS OF EPIDEMIOLOGY (2006)
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
DC Rees et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement:: hematological, nephrological, and otological studies of heterozygous KO mice
T Matsushita et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains
V Marigo et al.
GENOMICS (2004)
FLJ14813 Missense mutation: A candidate for autosomal dominant thrombocytopenia on human chromosome 10
MJ Gandhi et al.
HUMAN HEREDITY (2003)
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders
A Pecci et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
J Michaud et al.
BLOOD (2002)
Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder
S Kunishima et al.
AMERICAN JOURNAL OF HEMATOLOGY (2001)
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
A Savoia et al.
BLOOD (2001)
分享论文
