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JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2013)
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Shinji Kunishima et al.
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Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα
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BLOOD COAGULATION & FIBRINOLYSIS (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.
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Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen
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International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
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Correction of Murine Bernard-Soulier Syndrome by Lentivirus-mediated Gene Therapy
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A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease
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THROMBOSIS AND HAEMOSTASIS (2012)
Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera
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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations
Anna Savoia et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis
Silvia Vettore et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Molecular basis of Bernard-Soulier syndrome in 27 patients from India
E. Sumitha et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2011)
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
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NATURE GENETICS (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)
Frequency of Platelet type versus Type 2B von Willebrand Disease An international registry-based study
Alexander Hamilton et al.
THROMBOSIS AND HAEMOSTASIS (2011)
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay
Ingrid Bartsch et al.
THROMBOSIS AND HAEMOSTASIS (2011)
Phosphatidylserine exposure and other apoptotic-like events in Bernard-Soulier syndrome platelets
Margaret L. Rand et al.
AMERICAN JOURNAL OF HEMATOLOGY (2010)
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbbeta
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ANNALS OF HEMATOLOGY (2010)
Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome
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Advances in the understanding of MYH9 disorders
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CURRENT OPINION IN HEMATOLOGY (2010)
Vulnerable mutation Trp126 → stop of glycoprotein IX in Japanese Bernard - Soulier syndrome
Masako Iwanaga et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2010)
Molecular characterization of two mutations in platelet glycoprotein (GP) Ibα in two Finnish Bernard-Soulier syndrome families
S. Koskela et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2010)
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families
Satu Koskela et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2010)
Recurrent mutation Asn45 → Ser of glycoprotein IX in Bernard-Soulier syndrome
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EUROPEAN JOURNAL OF HAEMATOLOGY (2010)
Novel Mutation in Bernard-Soulier Syndrome
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TRANSFUSION MEDICINE AND HEMOTHERAPY (2010)
Bernard-Soulier syndrome: novel nonsense mutation in GPIb beta gene affecting GPIb-IX complex expression
Basma Hadjkacem et al.
ANNALS OF HEMATOLOGY (2009)
A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard-Soulier syndrome
Chihaya Imai et al.
BLOOD COAGULATION & FIBRINOLYSIS (2009)
Identification of five novel 14-3-3 isoforms interacting with the GPIb-IX complex in platelets
P. H. Mangin et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2009)
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano
A. Balduini et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2009)
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
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HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIb alpha gene: Lack of GPIb alpha but absence of bleeding
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Trp207Gly in platelet glycoprotein Ibα is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome
N. Rosenberg et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2007)
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BLOOD (2007)
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran
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PLATELETS (2007)
Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia
Fumito Gohda et al.
THROMBOSIS RESEARCH (2007)
First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S
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ACTA HAEMATOLOGICA (2007)
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibβ mutations
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EUROPEAN JOURNAL OF HAEMATOLOGY (2006)
Molecular genetics and transfusion management in a child with Bernard Soulier syndrome
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BLOOD COAGULATION & FIBRINOLYSIS (2006)
Bernard-Soulier syndrome due to GPIX W127X mutation in japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura
S Kunishima et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (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
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EUROPEAN JOURNAL OF HAEMATOLOGY (2006)
Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells
C Strassel et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2006)
Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease
M Othman et al.
BLOOD (2005)
Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome
J Drouin et al.
AMERICAN JOURNAL OF HEMATOLOGY (2005)
A 13 base pair deletion in the GPIbβ gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats
C Strassel et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2004)
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX:: an unexpected, frequent finding in Germany
UJH Sachs et al.
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Bernard-Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ibβ gene
R Watanabe et al.
BLOOD COAGULATION & FIBRINOLYSIS (2003)
Recurrent mutation Trp126 → stop of glycoprotein IX in Japanese Bernard-Soulier syndrome
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A novel missense mutation shows that GPIbβ has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor
C Strassel et al.
BIOCHEMISTRY (2003)
Heterozygotes in the Bernard-Soulier syndrome do not necessarily have giant platelets or thrombocytopenia
AT Nurden et al.
BRITISH JOURNAL OF HAEMATOLOGY (2003)
Novel nonsense mutation in the platelet glycoprotein Ibβ gene associated with Bernard-Soulier syndrome
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AMERICAN JOURNAL OF HEMATOLOGY (2002)
A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex
F Lanza et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder
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AMERICAN JOURNAL OF HEMATOLOGY (2001)
Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX
P Ulsemer et al.
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Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome
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PLATELETS (2001)
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
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BLOOD (2001)
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome
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BRITISH JOURNAL OF HAEMATOLOGY (2001)
Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ibα gene
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