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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Lentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, Ernest

Blood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α‐granules
Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α‐granules
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Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α‐granules

Favier, Marie ; Bordet, Jean‐Claude ; Favier, Remi ; Gkalea, Vasiliki ; Pillois, Xavier ; Rameau, Philippe ; Debili, Najet ; Alessi, Marie‐Christine ; Nurden, Paquita ; Raslova, Hana ; Nurden, Alan

American journal of hematology, 2018-02, Vol.93 (2), p.195-204 [Periódico revisado por pares]

United States

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3
A mutation of the human EPHB2 gene leads to a major platelet functional defect
A mutation of the human EPHB2 gene leads to a major platelet functional defect
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A mutation of the human EPHB2 gene leads to a major platelet functional defect

Berrou, Eliane ; Soukaseum, Christelle ; Favier, Rémi ; Adam, Frédéric ; Elaib, Ziane ; Kauskot, Alexandre ; Bordet, Jean-Claude ; Ballerini, Paola ; Loyau, Stephane ; Feng, Miao ; Dias, Karine ; Muheidli, Abbas ; Girault, Stephane ; Nurden, Alan T. ; Turro, Ernest ; Ouwehand, Willem H. ; Denis, Cécile V. ; Jandrot-Perrus, Martine ; Rosa, Jean-Philippe ; Nurden, Paquita ; Bryckaert, Marijke

Blood, 2018-11, Vol.132 (19), p.2067-2077 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
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Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Saultier, Paul ; Vidal, Léa ; Canault, Matthias ; Bernot, Denis ; Falaise, Céline ; Pouymayou, Catherine ; Bordet, Jean-Claude ; Saut, Noémie ; Rostan, Agathe ; Baccini, Véronique ; Peiretti, Franck ; Favier, Marie ; Lucca, Pauline ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Morange, Pierre Emmanuel ; Gachet, Christian ; Malergue, Fabrice ; Fauré, Sixtine ; Eckly, Anita ; Trégouët, David-Alexandre ; Poggi, Marjorie ; Alessi, Marie-Christine

Haematologica (Roma), 2017-06, Vol.102 (6), p.1006-1016 [Periódico revisado por pares]

Italy: Ferrata Storti Foundation

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5
Progressive pigmented purpuric dermatosis and platelet delta storage pool deficiency in a child
Progressive pigmented purpuric dermatosis and platelet delta storage pool deficiency in a child
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Progressive pigmented purpuric dermatosis and platelet delta storage pool deficiency in a child

Gkalea, Vasiliki ; Tang, Solange ; Favier, Remi ; Kuadjovi, Charlène ; Bégon, Edouard ; Bugaut, Hélène ; Bordet, Jean‐Claude ; Bachmeyer, Claude ; Blum, Laurent

Pediatric blood & cancer, 2019-07, Vol.66 (7), p.e27748-n/a [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Heterozygous mutations of the integrin αIIbR995/β3D723 intracytoplasmic salt bridge cause macrothrombocytopenia, platelet functional defects and enlarged α-granules
Heterozygous mutations of the integrin αIIbR995/β3D723 intracytoplasmic salt bridge cause macrothrombocytopenia, platelet functional defects and enlarged α-granules
Material Type:
Artigo 		Adicionar ao Meu Espaço

Heterozygous mutations of the integrin αIIbR995/β3D723 intracytoplasmic salt bridge cause macrothrombocytopenia, platelet functional defects and enlarged α-granules

Favier, Marie ; Bordet, Jean-Claude ; Favier, Rémi ; Gkalea, Vasiliki ; Pillois, Xavier ; Rameau, Philippe ; Debili, Najet ; Alessi, Marie-Christine ; Nurden, Paquita ; Raslova, Hana ; Nurden, Alan

American journal of hematology, 2018-02, Vol.93 (2), p.195-204 [Periódico revisado por pares]

Wiley

Texto completo disponível

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7
Mutations of the integrin [alpha]IIb/[beta]3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet [alpha]-granules
Mutations of the integrin [alpha]IIb/[beta]3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet [alpha]-granules
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of the integrin [alpha]IIb/[beta]3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet [alpha]-granules

Favier, Marie ; Bordet, Jean-Claude ; Favier, Remi ; Gkalea, Vasiliki ; Pillois, Xavier ; Rameau, Philippe ; Debili, Najet ; Alessi, Marie-Christine ; Nurden, Paquita ; Raslova, Hana ; Nurden, Alan

American journal of hematology, 2018-02, Vol.93 (2), p.195 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
8
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
Material Type:
Artigo 		Adicionar ao Meu Espaço

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Saultier, Paul ; Vidal, Léa ; Canault, Matthias ; Bernot, Denis ; Falaise, Céline ; Pouymayou, Catherine ; Bordet, Jean-Claude ; Saut, Noémie ; Rostan, Agathe ; Baccini, Véronique ; Peiretti, Franck ; Favier, Marie ; Lucca, Pauline ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Morange, Pierre Emmanuel ; Gachet, Christian ; Malergue, Fabrice ; Fauré, Sixtine ; Eckly, Anita ; Trégouët, David-Alexandre ; Poggi, Marjorie ; Alessi, Marie-Christine

Haematologica (Roma), 2017, Vol.102 (6), p.1006-1016 [Periódico revisado por pares]

Ferrata Storti Foundation

Texto completo disponível

Citações Citado por
9
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Lentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J ; Sims, Matthew C ; Stefanucci, Luca ; Stephens, Jonathan C ; Read, Randy J ; Stirrups, Kathleen E ; Ouwehand, Willem H ; Laffan, Michael A ; NIHR BioResource ; Frontini, Mattia ; Freson, Kathleen ; Turro, Ernest

http://dx.doi.org/10.1182/blood.2019000782 2019-12

Texto completo disponível

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10
A mutation of the human EPHB2 gene leads to a major platelet functional defect
A mutation of the human EPHB2 gene leads to a major platelet functional defect
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Berrou, Eliane ; Soukaseum, Christelle ; Favier, Rémi ; Adam, Frédéric ; Elaib, Ziane ; Kauskot, Alexandre ; Bordet, Jean-Claude ; Ballerini, Paola ; Loyau, Stephane ; Feng, Miao ; Dias, Karine ; Muheidli, Abbas ; Girault, Stephane ; Nurden, Alan T ; Turro, Ernest ; Ouwehand, Willem H ; Denis, Cécile V ; Jandrot-Perrus, Martine ; Rosa, Jean-Philippe ; Nurden, Paquita ; Bryckaert, Marijke

http://dx.doi.org/10.1182/blood-2018-04-845644 2018-11

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