Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Cyclic Neutropenia[original query] |
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Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 2004 Jun 103 (11): 4119-25. Bellanné-Chantelot Christine, Clauin Séverine, Leblanc Thierry, Cassinat Bruno, Rodrigues-Lima Fernando, Beaufils Sandrine, Vaury Christelle, Barkaoui Mohamed, Fenneteau Odile, Maier-Redelsperger Micheline, Chomienne Christine, Donadieu Je |
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. European journal of pediatrics 2005 Aug 164 (8): 501-8. Melis Daniela, Fulceri Rossella, Parenti Giancarlo, Marcolongo Paola, Gatti Rosanna, Parini Rossella, Riva Enrica, Della Casa Roberto, Zammarchi Enrico, Andria Generoso, Benedetti Ange |
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. Annals of the New York Academy of Sciences 2016 Apr 1370 (1): 119-25. Klimiankou Maksim, Mellor-Heineke Sabine, Zeidler Cornelia, Welte Karl, Skokowa Jul |
ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry. Pediatric blood & cancer 2022 8 69 (11): e29923. Donadieu Jean, Bou Mitri Fares, Beaupain Blandine, Alajidi Nathalie, Viallard Jean Francois, Paih Jean-Philippe Le, Yacoub Mokrane, Leblanc Thierry, Quero Laurent, Rouland Alexia, Labbe Louis, Deback Claire, Bellanne-Chantelot Christine, Emile Jean-Franço |
A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia. Pediatric blood & cancer 2023 2 70 (4): e30247. Dobrewa Weronika, Madzio Joanna, Babol-Pokora Katarzyna, Lopacz Patrycja, Gierszon Agnieszka, Guz Katarzyna, Orzinska Agnieszka, Uhrynowska Malgorzata, Jasinska Aleksandra, Zdunek Maciej, Mlynarski Wojciech, Janczar Szym |
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. European journal of haematology 2024 4 . Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shem |
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- Page last updated:Apr 22, 2024
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