(Q38220681)

31 August 2017

title

Spectrum of the mutations in Bernard-Soulier syndrome (English)

1 reference

31 August 2017

1

1 reference

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8 June 2020

Daniela De Rocco

3

1 reference

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8 June 2020

Alessandro Pecci

9

1 reference

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8 June 2020

Patrizia Noris

10

1 reference

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Marie-Christine Morel-Kopp

8 June 2020

13

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8 June 2020

Marie-Christine Alessi

14

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8 June 2020

Valérie Proulle

23

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8 June 2020

Sandrine Meunier

24

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8 June 2020

Claude Negrier

25

1 reference

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8 June 2020

Mehran Karimi

33

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8 June 2020

François Lanza

36

1 reference

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8 June 2020

0 references

35

Annalisa Pastore

1 reference

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8 June 2020

27

Hanitra Randrianaivo

1 reference

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8 June 2020

author name string

Shinji Kunishima

2

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8 June 2020

Barbara Zieger

4

1 reference

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8 June 2020

Margaret L Rand

5

1 reference

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8 June 2020

Nuria Pujol-Moix

6

1 reference

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8 June 2020

Umran Caliskan

7

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8 June 2020

Huseyin Tokgoz

8

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8 June 2020

Alok Srivastava

11

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8 June 2020

Christopher Ward

12

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8 June 2020

Sylvia Bellucci

15

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8 June 2020

Philippe Beurrier

16

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8 June 2020

Emmanuel de Maistre

17

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8 June 2020

Rémi Favier

18

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8 June 2020

Nathalie Hézard

19

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8 June 2020

Marie-Françoise Hurtaud-Roux

20

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8 June 2020

Véronique Latger-Cannard

21

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8 June 2020

Cécile Lavenu-Bombled

22

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8 June 2020

Alan Nurden

26

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8 June 2020

Fabrizio Fabris

28

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8 June 2020

Helen Platokouki

29

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8 June 2020

Nurit Rosenberg

30

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8 June 2020

Basma HadjKacem

31

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8 June 2020

Paula G Heller

32

1 reference

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8 June 2020

Carlo L Balduini

34

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8 June 2020

publication date

15 July 2014

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31 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24934643%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

35

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8 June 2020

issue

9

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8 June 2020

page(s)

1033-1045

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24934643%20AND%20SRC:MED&resulttype=core&format=json

Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.

8 June 2020

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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

21 January 2018

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Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex

21 January 2018

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Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation

21 January 2018

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Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

21 January 2018

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Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

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Genetics of familial forms of thrombocytopenia

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Inherited thrombocytopenias frequently diagnosed in adults

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Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.

21 January 2018

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Structural Basis of Regulation of von Willebrand Factor Binding to Glycoprotein Ib

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First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.

21 January 2018

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Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex

21 January 2018

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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

21 January 2018

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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

21 January 2018

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Identification of a binding sequence for the 14-3-3 protein within the cytoplasmic domain of the adhesion receptor, platelet glycoprotein Ib alpha

21 January 2018

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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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Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia

21 January 2018

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Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression

21 January 2018

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The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.

21 January 2018

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Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.

21 January 2018

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A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome

21 January 2018

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Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy

21 January 2018

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Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome

21 January 2018

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Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder

21 January 2018

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Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura

21 January 2018

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Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations

21 January 2018

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Advances in the understanding of MYH9 disorders

21 January 2018

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ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

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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

21 January 2018

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The organizing principle of the platelet glycoprotein Ib-IX-V complex.

21 January 2018

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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome

21 January 2018

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Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet

21 January 2018

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Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity

21 January 2018

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Identification of five novel 14-3-3 isoforms interacting with the GPIb-IX complex in platelets.

21 January 2018

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Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera

21 January 2018

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Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha

21 January 2018

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21 January 2018

BSS misdiagnosed as ITP.

1 reference

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A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome

21 January 2018

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A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV

21 January 2018

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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

21 January 2018

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Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

21 January 2018

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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

21 January 2018

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Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder

21 January 2018

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Phosphatidylserine exposure and other apoptotic-like events in Bernard-Soulier syndrome platelets

21 January 2018

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Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome

21 January 2018

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Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome

21 January 2018

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Bernard–Soulier syndrome due to the homozygous Asn‐45Ser mutation in GPIX: an unexpected, frequent finding in Germany

21 January 2018

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Novel Mutation in Bernard-Soulier Syndrome

21 January 2018

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Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation

21 January 2018

1 reference

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Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

21 January 2018

1 reference

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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

21 January 2018

1 reference

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A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor

21 January 2018

1 reference

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Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

21 January 2018

1 reference

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Molecular basis of Bernard-Soulier syndrome in 27 patients from India.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Novel point mutation in a leucine-rich repeat of the GPIbalpha 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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.

21 January 2018

1 reference

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Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

21 January 2018

1 reference

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ABSTRACTS OF THE XXIV CONGRESS OF THE INTERNATIONAL SOCIETY ON THROMBOSIS AND HAEMOSTASIS

21 January 2018

1 reference

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Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene

21 January 2018

1 reference

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7 January 2021

Molecular pathology of Bernard-Soulier syndrome in Indian patients

1 reference

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7 January 2021

Novel genetic abnormalities in Bernard-Soulier syndrome in India

1 reference

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7 January 2021

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Molecular genetics and transfusion management in a child with Bernard Soulier syndrome

1 reference

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7 January 2021

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Bernard-Soulier syndrome Karlstad: Trp 498Stop mutation resulting in a truncated glycoprotein Ibalpha that contains part of the transmembranous domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Heterozygotes in the bernard-soulier syndrome do not necessarily have giant platelets or thrombocytopenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021

A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22607

7 January 2021