Jacinta Bustamante
AuthID: R-00H-PM8
1
TITLE: Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance Full Text
AUTHORS: Oleaga Quintas, C; de Oliveira, EB; Rosain, J; Rapaport, F; Deswarte, C; Guerin, A; Sajjath, SM; Zhou, YJ; Marot, S; Lozano, C; Branco, L; Fernandez Hidalgo, N; Lew, DB; Brunel, AS; Thomas, C; Launay, E; Arias, AA; Cuffel, A; Monjo, VC; Neehus, AL; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY
AUTHORS: Oleaga Quintas, C; de Oliveira, EB; Rosain, J; Rapaport, F; Deswarte, C; Guerin, A; Sajjath, SM; Zhou, YJ; Marot, S; Lozano, C; Branco, L; Fernandez Hidalgo, N; Lew, DB; Brunel, AS; Thomas, C; Launay, E; Arias, AA; Cuffel, A; Monjo, VC; Neehus, AL; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY
INDEXED IN: Scopus WOS
2
TITLE: Inherited p40(phox) deficiency differs from classic chronic granulomatous disease
AUTHORS: Annemarie van de Geer; Alejandro Nieto Patlan; Douglas B Kuhns; Anton T J Tool; Andres A Arias; Matthieu Bouaziz; Martin de Boer; Jose L Luis Franco; Roel P Gazendam; John L van Hamme; Michel van Houdt; Karin van Leeuwen; Paul J H Verkuijlen; Timo K van den Berg; Juan F Alzate; Carlos A Arango Franco; Vritika Batura; Andrea R Bernasconi; Barbara Boardman; Claire Booth; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 128, ISSUE: 9
AUTHORS: Annemarie van de Geer; Alejandro Nieto Patlan; Douglas B Kuhns; Anton T J Tool; Andres A Arias; Matthieu Bouaziz; Martin de Boer; Jose L Luis Franco; Roel P Gazendam; John L van Hamme; Michel van Houdt; Karin van Leeuwen; Paul J H Verkuijlen; Timo K van den Berg; Juan F Alzate; Carlos A Arango Franco; Vritika Batura; Andrea R Bernasconi; Barbara Boardman; Claire Booth; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 128, ISSUE: 9
INDEXED IN: Scopus WOS
3
TITLE: Copy number variations and founder effect underlying complete IL-10R beta deficiency in Portuguese kindreds Full Text
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10
AUTHORS: Fabienne Charbit Henrion; Bernadette Begue; Anais Sierra; Sylvain Hanein; Marie Claude Stolzenberg; Zhi Li; Sandra Pellegrini; Nicolas Garcelon; Marc Jeanpierre; Benedicte Neven; Isabelle Loge; Capucine Picard; Jeremie Rosain; Jacinta Bustamante; Marc Le Lorc'h; Benedicte Pigneur; Alicia Fernandes; Frederic Rieux Laucat; Jorge Amil Dias; Frank M Ruemmele; ...More
PUBLISHED: 2018, SOURCE: PLOS ONE, VOLUME: 13, ISSUE: 10
INDEXED IN: Scopus WOS