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Stéphanie Certain

Research Profile

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Publications

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Jérôme Feldmann; Isabelle Callebaut; Graça Raposo; Stéphanie Certain; Delphine Bacq; Cécile Dumont; Nathalie Lambert; Marie Ouachée-Chardin; Gaëlle Chedeville; Hannah Tamary; Véronique Minard-Colin; Etienne Vilmer; Stéphane Blanche; Françoise Le Deist; Alain Fischer; Geneviève de Saint Basile
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Jérôme Feldmann; Anne-Marie Prieur; Pierre Quartier; Patrick Berquin; Stéphanie Certain; Elisabetta Cortis; Dominique Teillac-Hamel; Alain Fischer; Geneviève de Saint Basile
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Jérôme Feldmann; Françoise Le Deist; Marie Ouachée-Chardin; Stéphanie Certain; Sarah Alexander; Pierre Quartier; Elie Haddad; Nico M Wulffraat; Jean-Laurent Casanova; Stéphane Blanche; Alain Fischer; Geneviève de Saint Basile
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

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All Publications

2003: Jérôme Feldmann; Isabelle Callebaut; Graça Raposo; Stéphanie Certain; Delphine Bacq; Cécile Dumont; Nathalie Lambert; Marie Ouachée-Chardin; Gaëlle Chedeville; Hannah Tamary; Véronique Minard-Colin; Etienne Vilmer; Stéphane Blanche; Françoise Le Deist; Alain Fischer; Geneviève de Saint Basile
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Cell 2003;115(4):461-73.
2002: Jérôme Feldmann; Anne-Marie Prieur; Pierre Quartier; Patrick Berquin; Stéphanie Certain; Elisabetta Cortis; Dominique Teillac-Hamel; Alain Fischer; Geneviève de Saint Basile
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
American journal of human genetics 2002;71(1):198-203.
2002: Jérôme Feldmann; Françoise Le Deist; Marie Ouachée-Chardin; Stéphanie Certain; Sarah Alexander; Pierre Quartier; Elie Haddad; Nico M Wulffraat; Jean-Laurent Casanova; Stéphane Blanche; Alain Fischer; Geneviève de Saint Basile
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
British journal of haematology 2002;117(4):965-72.
2000: Gaël Ménasché; E Pastural; Jérôme Feldmann; Stéphanie Certain; Fügen Ersoy; Stéphanie Dupuis; Nico M Wulffraat; D Bianchi; Alain Fischer; Françoise Le Deist; Geneviève de Saint Basile
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Nature genetics 2000;25(2):173-6.
2000: Marina Cavazzana-Calvo; Salima Hacein-Bey; Geneviève de Saint Basile; Fabian Gross; E Yvon; P Nusbaum; Françoise Selz; Christophe Hue; Stéphanie Certain; Jean-Laurent Casanova; Philippe Bousso; F L Deist; Alain Fischer
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
Science (New York, N.Y.) 2000;288(5466):669-72.
2000: Stéphanie Certain; FJ Barrat; E Pastural; Françoise Le Deist; J Goyo-Rivas; Nada Jabado; Malika Benkerrou; R Seger; Etienne Vilmer; G Beullier; K Schwarz; Alain Fischer; Geneviève de Saint Basile
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
Blood 2000;95(3):979-83.
1999: Susan E Stepp; R Dufourcq-Lagelouse; Françoise Le Deist; S Bhawan; Stéphanie Certain; Porunelloor A Mathew; J I Henter; Michael Bennett; Alain Fischer; Geneviève de Saint Basile; Vinay Kumar
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
Science (New York, N.Y.) 1999;286(5446):1957-9.
1997: FJ Barrat; D Depetris; Stéphanie Certain; M G Mattei; Geneviève de Saint Basile
Localization of the Rab escort protein-2 (REP2) and inositol 1,4,5-trisphosphate 3-kinase (ITPKB) genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44.
Genomics 1997;43(1):111-3.
1997: E Pastural; FJ Barrat; R Dufourcq-Lagelouse; Stéphanie Certain; O Sanal; Nada Jabado; R Seger; C Griscelli; Alain Fischer; Geneviève de Saint Basile
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
Nature genetics 1997;16(3):289-92.
1994: James P DiSanto; Stéphanie Certain; A Wilson; H R MacDonald; P Avner; Alain Fischer; Geneviève de Saint Basile
The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus.
European journal of immunology 1994;24(12):3014-8.
1994: James P DiSanto; Alice Dautry-Varsat; Stéphanie Certain; Alain Fischer; Geneviève de Saint Basile
Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.
European journal of immunology 1994;24(2):475-9.