共 15 条
[1]
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome
[J].
Bellanne-Chantelot, Christine
;
Schmaltz-Panneau, Barbara
;
Marty, Caroline
;
Fenneteau, Odile
;
Callebaut, Isabelle
;
Clauin, Severine
;
Docet, Aurelie
;
Damaj, Gandhi-Laurent
;
Leblanc, Thierry
;
Pellier, Isabelle
;
Stoven, Cecile
;
Souquere, Sylvie
;
Antony-Debre, Ileana
;
Beaupain, Blandine
;
Aladjidi, Nathalie
;
Barlogis, Vincent
;
Bauduer, Frederic
;
Bensaid, Philippe
;
Boespflug-Tanguy, Odile
;
Berger, Claire
;
Bertrand, Yves
;
Carausu, Liana
;
Fieschi, Claire
;
Galambrun, Claire
;
Schmidt, Aline
;
Journel, Hubert
;
Mazingue, Francoise
;
Nelken, Brigitte
;
Thuan Chong Quah
;
Oksenhendler, Eric
;
Ouachee, Marie
;
Pasquet, Marlene
;
Saada, Veronique
;
Suarez, Felipe
;
Pierron, Gerard
;
Vainchenker, William
;
Plo, Isabelle
;
Donadieu, Jean
.
BLOOD,
2018, 132 (12)
:1318-1331

Bellanne-Chantelot, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France
INSERM, UMR1170, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Schmaltz-Panneau, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR1170, Villejuif, France
Univ Paris Saclay, Gustave Roussy, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Marty, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR1170, Villejuif, France
Univ Paris Saclay, Gustave Roussy, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Fenneteau, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Lab Hematol, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

论文数: 引用数:
h-index:
机构:

Clauin, Severine
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Docet, Aurelie
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Damaj, Gandhi-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Normandie Caen, CHU, Fac Med, Dept Hematol, Caen, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Leblanc, Thierry
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Dept Pediat Hematol & Immunol, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Pellier, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Dept Pediat Hematol Immunol & Oncol, Angers, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Stoven, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU La Reunion, Grp Hosp Sud Reunion, Dept Pediat, St Denis, Reunion, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Souquere, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
Gustave Roussy, CNRS, UMR9196, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Antony-Debre, Ileana
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR1170, Villejuif, France
Univ Paris Saclay, Gustave Roussy, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Beaupain, Blandine
论文数: 0 引用数: 0
h-index: 0
机构:
Trousseau Hosp, French Registry Chron Neutropenia, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Aladjidi, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Ctr Invest Clin INSERM 1401, Ctr Invest Clin Plurithemat, Unit Pediat Hematol, Bordeaux, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Barlogis, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
Timone Hosp, AP HM, Dept Pediat Hematol, Marseille, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Bauduer, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Cote Basque, Bayonne, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Bensaid, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Argenteuil, Dept Pediat, Argenteuil, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Boespflug-Tanguy, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Child Neurol & Metab Disorders Dept, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Berger, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Dept Pediat Hematol & Oncol, St Etienne, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Bertrand, Yves
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pediat Hematol & Oncol, Lyon, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Carausu, Liana
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Dept Pediat Hematol & Oncol, Brest, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Fieschi, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
St Louis Hosp, AP HP, Dept Clin Immunol, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Galambrun, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Timone Hosp, AP HM, Dept Pediat Hematol, Marseille, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Schmidt, Aline
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Dept Hematol, Angers, France
Angers Univ, INSERM, U892, CNRS 6299, Angers, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Journel, Hubert
论文数: 0 引用数: 0
h-index: 0
机构:
Bretagne Atlantique Hosp, Dept Genet, Vannes, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Mazingue, Francoise
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU, Dept Pediat Hematol & Oncol, Lille, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Nelken, Brigitte
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU, Dept Pediat Hematol & Oncol, Lille, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Thuan Chong Quah
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Univ Singapore Hosp, Dept Pediat, Singapore, Singapore Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Oksenhendler, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
St Louis Hosp, AP HP, Dept Clin Immunol, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Ouachee, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Dept Pediat Hematol & Immunol, Paris, France
Inst Pediat Hematol & Oncol, Lyon, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Pasquet, Marlene
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, Dept Pediat Hematol & Oncol, Toulouse, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Saada, Veronique
论文数: 0 引用数: 0
h-index: 0
机构:
Gustave Roussy, Hematol Lab, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Suarez, Felipe
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malad Univ Hosp, AP HP, Dept Hematol, Paris, France
INSERM, UMR1163, Paris, France
CNRS, ERL 8254, Imagine Inst, Sorbonne Paris Cite, Paris, France
Descartes Univ, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Pierron, Gerard
论文数: 0 引用数: 0
h-index: 0
机构:
Gustave Roussy, CNRS, UMR9196, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

论文数: 引用数:
h-index:
机构:

Plo, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR1170, Villejuif, France
Univ Paris Saclay, Gustave Roussy, Villejuif, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France

Donadieu, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Trousseau Hosp, French Registry Chron Neutropenia, Paris, France
Trousseau Hosp, AP HP, Dept Pediat Hematol & Oncol, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France
[2]
ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report
[J].
Chen, Xin
;
Peng, Wansheng
;
Zhang, Zhen
;
Wu, Yumeng
;
Xu, Jiali
;
Zhou, Yan
;
Chen, Li
.
MEDICINE,
2018, 97 (10)

Chen, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Peng, Wansheng
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Zhang, Zhen
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Wu, Yumeng
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Xu, Jiali
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Zhou, Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China

Chen, Li
论文数: 0 引用数: 0
h-index: 0
机构:
Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China Bengbu Med Coll, Hosp 1, Dept Pediat, Bengbu 233004, Anhui, Peoples R China
[3]
Chong L A, 2006, Med J Malaysia, V61, P236
[4]
Congenital neutropenia: diagnosis, molecular bases and patient management
[J].
Donadieu, Jean
;
Fenneteau, Odile
;
Beaupain, Blandine
;
Mahlaoui, Nizar
;
Chantelot, Christine Bellanne
.
ORPHANET JOURNAL OF RARE DISEASES,
2011, 6

Donadieu, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France

Fenneteau, Odile
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, AP HP, Hematol Lab, F-75019 Paris, France Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France

Beaupain, Blandine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France

Mahlaoui, Nizar
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Unite Immunohematol & Rhumatol Pediat, F-75015 Paris, France
Grp Hosp Necker Enfants Malad, Assistance Publ Hop Paris, CEREDIH, F-75015 Paris, France Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France

Chantelot, Christine Bellanne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris 13, France Hop Trousseau, AP HP, Serv Hemato Oncol Pediat Registre Neutropenies Co, F-75012 Paris, France
[5]
The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia
[J].
Germeshausen, Manuela
;
Deerberg, Sabine
;
Peter, Yvonne
;
Reimer, Christina
;
Kratz, Christian P.
;
Ballmaier, Matthias
.
HUMAN MUTATION,
2013, 34 (06)
:905-914

Germeshausen, Manuela
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

Deerberg, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

Peter, Yvonne
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

Reimer, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Res Facil Cell Sorting, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

Kratz, Christian P.
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany

Ballmaier, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany Hannover Med Sch, Dept Pediat Hematol & Oncol, D-30625 Hannover, Germany
[6]
ELANE Mutations in Cyclic and Severe Congenital Neutropenia Genetics and Pathophysiology
[J].
Horwitz, Marshall S.
;
Corey, Seth J.
;
Grimes, H. Leighton
;
Tidwell, Timothy
.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA,
2013, 27 (01)
:19-+

Horwitz, Marshall S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98109 USA Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98109 USA

Corey, Seth J.
论文数: 0 引用数: 0
h-index: 0
机构:
NW Univ Feinberg, Dept Pediat, Sch Med, Chicago, IL 60611 USA
NW Univ Feinberg, Sch Med, Dept Cell & Mol Biol, Chicago, IL 60611 USA Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98109 USA

Grimes, H. Leighton
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Immunobiol, Cincinnati, OH 45229 USA Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98109 USA

Tidwell, Timothy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Program Mol & Cellular Biol, Seattle, WA 98109 USA Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98109 USA
[7]
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes
[J].
Iancovici-Kidon, M
;
Sthoeger, D
;
Abrahamov, A
;
Volach, B
;
Beutler, E
;
Gelbart, T
;
Barak, Y
.
BLOOD CELLS MOLECULES AND DISEASES,
2000, 26 (06)
:567-571

Iancovici-Kidon, M
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Sthoeger, D
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Abrahamov, A
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Volach, B
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Beutler, E
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Gelbart, T
论文数: 0 引用数: 0
h-index: 0
机构: Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel

Barak, Y
论文数: 0 引用数: 0
h-index: 0
机构:
Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel
[8]
KOSTMANN R, 1956, Acta Paediatr Suppl, V45, P1
[9]
Mechanisms of leukemic transformation in congenital neutropenia
[J].
Link, Daniel C.
.
CURRENT OPINION IN HEMATOLOGY,
2019, 26 (01)
:34-40

Link, Daniel C.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Dept Internal Med, Div Oncol, Sch Med, 660 S Euclid Ave,Campus Box 8007, St Louis, MO 63110 USA Washington Univ, Dept Internal Med, Div Oncol, Sch Med, 660 S Euclid Ave,Campus Box 8007, St Louis, MO 63110 USA
[10]
Nathan DG., 2015, HEMATOL ONCOL, V1, P243