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Hanna Gazda
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Network (preview)
9
Sieff, Colin
8
Beggs, Alan
5
Lipton, Jeffrey
4
Atsidaftos, Eva
3
Vlachos, Adrianna
3
Nathan, David
3
Zaucha, Jan
3
Meerpohl, Joerg
2
Sanoudou, Despina
2
Tchernia, Gil
2
Viskochil, David
2
Pospisilova, Dagmar
2
Niemeyer, Charlotte
2
Niewiadomska, Edyta
2
Orfali, Karen
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Geonetwork of Hanna Gazda (preview)
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All Publications
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2008: Gazda Hanna T; Sheen Mee Rie; Vlachos Adrianna; Choesmel Valerie; O'Donohue Marie-Françoise; Schneider Hal; Darras Natasha; Hasman Catherine; Sieff Colin A; Newburger Peter E; Ball Sarah E; Niewiadomska Edyta; Matysiak Michal; Zaucha Jan M; Glader Bertil; Niemeyer Charlotte; Meerpohl Joerg J; Atsidaftos Eva; Lipton Jeffrey M; Gleizes Pierre-Emmanuel; Beggs Alan H
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
American journal of human genetics 2008;83(6):769-80.
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2008: Farrar Jason E; Nater Michelle; Caywood Emi; McDevitt Michael A; Kowalski Jeanne; Takemoto Clifford M; Talbot C Conover; Meltzer Paul; Esposito Diane; Beggs Alan H; Schneider Hal E; Grabowska Agnieszka; Ball Sarah E; Niewiadomska Edyta; Sieff Colin A; Vlachos Adrianna; Atsidaftos Eva; Ellis Steven R; Lipton Jeffrey M; Gazda Hanna T; Arceci Robert J
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Blood 2008;112(5):1582-92.
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2008: Choesmel Valérie; Fribourg Sébastien; Aguissa-Touré Almass-Houd; Pinaud Noël; Legrand Pierre; Gazda Hanna T; Gleizes Pierre-Emmanuel
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
Human molecular genetics 2008;17(9):1253-63.
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2006: Gazda Hanna T; Grabowska Agnieszka; Merida-Long Lilia B; Latawiec Elzbieta; Schneider Hal E; Lipton Jeffrey M; Vlachos Adrianna; Atsidaftos Eva; Ball Sarah E; Orfali Karen A; Niewiadomska Edyta; Da Costa Lydie; Tchernia Gil; Niemeyer Charlotte; Meerpohl Joerg J; Stahl Joachim; Schratt Gerhard; Glader Bertil; Backer Karen; Wong Carolyn; Nathan David G; Beggs Alan H; Sieff Colin A
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
American journal of human genetics 2006;79(6):1110-8.
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2006: Gazda Hanna T; Sieff Colin A
Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
British journal of haematology 2006;135(2):149-57.
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2006: Gazda Hanna T; Kho Alvin T; Sanoudou Despina; Zaucha Jan M; Kohane Isaac S; Sieff Colin A; Beggs Alan H
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
Stem cells (Dayton, Ohio) 2006;24(9):2034-44.
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2005: Quigley John G; Gazda Hanna; Yang Zhantao; Ball Sarah; Sieff Colin A; Abkowitz Janis L
Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.
Blood cells, molecules & diseases 2005;35(2):189-92.
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2004: Gazda Hanna T; Zhong Rong; Long Lilia; Niewiadomska Edyta; Lipton Jeffrey M; Ploszynska Anna; Zaucha Jan M; Vlachos Adrianna; Atsidaftos Evangelia; Viskochil David H; Niemeyer Charlotte M; Meerpohl Joerg J; Rokicka-Milewska Roma; Pospisilova Dagmar; Wiktor-Jedrzejczak W; Nathan David G; Beggs Alan H; Sieff Colin A
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
British journal of haematology 2004;127(1):105-13.
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2003: Sanoudou Despina; Haslett Judith N; Kho Alvin T; Guo Shaoqiang; Gazda Hanna T; Greenberg Steven A; Lidov Hart G W; Kohane Isaac S; Kunkel Louis M; Beggs Alan H
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(8):4666-71.
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2002: Zervos A; Hunt K E; Tong H Q; Avallone J; Morales J; Friedman N; Cohen B H; Clark B; Guo S; Gazda H; Beggs A H; Traboulsi E I
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
European journal of ophthalmology 2002;12(4):253-61.
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2001: Gazda H; Lipton J M; Willig T N; Ball S; Niemeyer C M; Tchernia G; Mohandas N; Daly M J; Ploszynska A; Orfali K A; Vlachos A; Glader B E; Rokicka-Milewska R; Ohara A; Baker D; Pospisilova D; Webber A; Viskochil D H; Nathan D G; Beggs A H; Sieff C A
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
Blood 2001;97(7):2145-50.
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2000: Willig T N; Gazda H; Sieff C A
Diamond-Blackfan anemia.
Current opinion in hematology 2000;7(2):85-94.
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2000: Wulff K; Gazda H; Schröder W; Robicka-Milewska R; Herrmann F H
Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene.
Human mutation 2000;15(3):299.
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1998: Schröder W; Poetsch M; Gazda H; Werner W; Reichelt T; Knoll W; Rokicka-Milewska R; Zieleniewska B; Herrmann F H
A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report.
British journal of haematology 1998;100(4):750-7.
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