T N Willig, N Draptchinskaia, I Dianzani, S Ball, C Niemeyer, U Ramenghi, K Orfali, P Gustavsson, E Garelli, A Brusco, C Tiemann, J L Pérignon, C Bouchier, L Cicchiello, N Dahl, N Mohandas, G Tchernia. Blood 1999
Times Cited: 157
Times Cited: 157
Times Cited
Times Co-cited
Similarity
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
80
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Hanna T Gazda, Agnieszka Grabowska, Lilia B Merida-Long, Elzbieta Latawiec, Hal E Schneider, Jeffrey M Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E Ball, Karen A Orfali,[...]. Am J Hum Genet 2006
Hanna T Gazda, Agnieszka Grabowska, Lilia B Merida-Long, Elzbieta Latawiec, Hal E Schneider, Jeffrey M Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E Ball, Karen A Orfali,[...]. Am J Hum Genet 2006
55
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak, Dagmar Pospisilova. Hum Mutat 2007
Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak, Dagmar Pospisilova. Hum Mutat 2007
44
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A Sieff, Peter E Newburger,[...]. Am J Hum Genet 2008
Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A Sieff, Peter E Newburger,[...]. Am J Hum Genet 2008
43
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Jason E Farrar, Michelle Nater, Emi Caywood, Michael A McDevitt, Jeanne Kowalski, Clifford M Takemoto, C Conover Talbot, Paul Meltzer, Diane Esposito, Alan H Beggs,[...]. Blood 2008
Jason E Farrar, Michelle Nater, Emi Caywood, Michael A McDevitt, Jeanne Kowalski, Clifford M Takemoto, C Conover Talbot, Paul Meltzer, Diane Esposito, Alan H Beggs,[...]. Blood 2008
40
Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Valérie Choesmel, Daniel Bacqueville, Jacques Rouquette, Jacqueline Noaillac-Depeyre, Sébastien Fribourg, Aurore Crétien, Thierry Leblanc, Gil Tchernia, Lydie Da Costa, Pierre-Emmanuel Gleizes. Blood 2007
Valérie Choesmel, Daniel Bacqueville, Jacques Rouquette, Jacqueline Noaillac-Depeyre, Sébastien Fribourg, Aurore Crétien, Thierry Leblanc, Gil Tchernia, Lydie Da Costa, Pierre-Emmanuel Gleizes. Blood 2007
39
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.
Maria Francesca Campagnoli, Emanuela Garelli, Paola Quarello, Adriana Carando, Stefania Varotto, Bruno Nobili, Daniela Longoni, Vanna Pecile, Marco Zecca, Carlo Dufour,[...]. Haematologica 2004
Maria Francesca Campagnoli, Emanuela Garelli, Paola Quarello, Adriana Carando, Stefania Varotto, Bruno Nobili, Daniela Longoni, Vanna Pecile, Marco Zecca, Carlo Dufour,[...]. Haematologica 2004
44
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.
Johan Flygare, Anna Aspesi, Joshua C Bailey, Koichi Miyake, Jacqueline M Caffrey, Stefan Karlsson, Steven R Ellis. Blood 2007
Johan Flygare, Anna Aspesi, Joshua C Bailey, Koichi Miyake, Jacqueline M Caffrey, Stefan Karlsson, Steven R Ellis. Blood 2007
33
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Hanna T Gazda, Rong Zhong, Lilia Long, Edyta Niewiadomska, Jeffrey M Lipton, Anna Ploszynska, Jan M Zaucha, Adrianna Vlachos, Evangelia Atsidaftos, David H Viskochil,[...]. Br J Haematol 2004
Hanna T Gazda, Rong Zhong, Lilia Long, Edyta Niewiadomska, Jeffrey M Lipton, Anna Ploszynska, Jan M Zaucha, Adrianna Vlachos, Evangelia Atsidaftos, David H Viskochil,[...]. Br J Haematol 2004
35
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI).
T N Willig, C M Niemeyer, T Leblanc, C Tiemann, A Robert, J Budde, A Lambiliotte, E Kohne, G Souillet, S Eber,[...]. Pediatr Res 1999
T N Willig, C M Niemeyer, T Leblanc, C Tiemann, A Robert, J Budde, A Lambiliotte, E Kohne, G Souillet, S Eber,[...]. Pediatr Res 1999
30
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.
Karen A Orfali, Yaw Ohene-Abuakwa, Sarah E Ball. Br J Haematol 2004
Karen A Orfali, Yaw Ohene-Abuakwa, Sarah E Ball. Br J Haematol 2004
34
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.
Isabelle Léger-Silvestre, Jacqueline Marie Caffrey, Rosy Dawaliby, Diana Alehandrovna Alvarez-Arias, Nicole Gas, Salvatore J Bertolone, Pierre-Emmanuel Gleizes, Steven Robert Ellis. J Biol Chem 2005
Isabelle Léger-Silvestre, Jacqueline Marie Caffrey, Rosy Dawaliby, Diana Alehandrovna Alvarez-Arias, Nicole Gas, Salvatore J Bertolone, Pierre-Emmanuel Gleizes, Steven Robert Ellis. J Biol Chem 2005
28
Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.
Jeffrey M Lipton, Eva Atsidaftos, Israel Zyskind, Adrianna Vlachos. Pediatr Blood Cancer 2006
Jeffrey M Lipton, Eva Atsidaftos, Israel Zyskind, Adrianna Vlachos. Pediatr Blood Cancer 2006
28
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Adrianna Vlachos, Sarah Ball, Niklas Dahl, Blanche P Alter, Sujit Sheth, Ugo Ramenghi, Joerg Meerpohl, Stefan Karlsson, Johnson M Liu, Thierry Leblanc,[...]. Br J Haematol 2008
Adrianna Vlachos, Sarah Ball, Niklas Dahl, Blanche P Alter, Sujit Sheth, Ugo Ramenghi, Joerg Meerpohl, Stefan Karlsson, Johnson M Liu, Thierry Leblanc,[...]. Br J Haematol 2008
27
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
26
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E Schneider, Colin A Sieff, Peter E Newburger, Sarah E Ball,[...]. Am J Hum Genet 2010
Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E Schneider, Colin A Sieff, Peter E Newburger, Sarah E Ball,[...]. Am J Hum Genet 2010
26
Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.
S E Ball, C P McGuckin, G Jenkins, E C Gordon-Smith. Br J Haematol 1996
S E Ball, C P McGuckin, G Jenkins, E C Gordon-Smith. Br J Haematol 1996
25
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.
Hans Matsson, Edward J Davey, Natalia Draptchinskaia, Isao Hamaguchi, Andreas Ooka, Per Levéen, Erik Forsberg, Stefan Karlsson, Niklas Dahl. Mol Cell Biol 2004
Hans Matsson, Edward J Davey, Natalia Draptchinskaia, Isao Hamaguchi, Andreas Ooka, Per Levéen, Erik Forsberg, Stefan Karlsson, Niklas Dahl. Mol Cell Biol 2004
22
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Mara Angelini, Stefano Cannata, Valentina Mercaldo, Luisa Gibello, Claudio Santoro, Irma Dianzani, Fabrizio Loreni. Hum Mol Genet 2007
Mara Angelini, Stefano Cannata, Valentina Mercaldo, Luisa Gibello, Claudio Santoro, Irma Dianzani, Fabrizio Loreni. Hum Mol Genet 2007
44
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.
Johan Flygare, Thomas Kiefer, Koichi Miyake, Taiju Utsugisawa, Isao Hamaguchi, Lydie Da Costa, Johan Richter, Edward J Davey, Hans Matsson, Niklas Dahl,[...]. Blood 2005
Johan Flygare, Thomas Kiefer, Koichi Miyake, Taiju Utsugisawa, Isao Hamaguchi, Lydie Da Costa, Johan Richter, Edward J Davey, Hans Matsson, Niklas Dahl,[...]. Blood 2005
23
Ribosomes and marrow failure: coincidental association or molecular paradigm?
Johnson M Liu, Steven R Ellis. Blood 2006
Johnson M Liu, Steven R Ellis. Blood 2006
21
RPS19 mutations in patients with Diamond-Blackfan anemia.
Maria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, Paola Quarello, Emanuela Garelli, Adriana Carando, Federica Avondo, Elisa Pavesi, Sébastien Fribourg, Pierre-Emmanuel Gleizes,[...]. Hum Mutat 2008
Maria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, Paola Quarello, Emanuela Garelli, Adriana Carando, Federica Avondo, Elisa Pavesi, Sébastien Fribourg, Pierre-Emmanuel Gleizes,[...]. Hum Mutat 2008
26
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.
Isao Hamaguchi, Andreas Ooka, Ann Brun, Johan Richter, Niklas Dahl, Stefan Karlsson. Blood 2002
Isao Hamaguchi, Andreas Ooka, Ann Brun, Johan Richter, Niklas Dahl, Stefan Karlsson. Blood 2002
26
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia.
A Vlachos, G W Klein, J M Lipton. J Pediatr Hematol Oncol 2001
A Vlachos, G W Klein, J M Lipton. J Pediatr Hematol Oncol 2001
22
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
18
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Nadia Danilova, Kathleen M Sakamoto, Shuo Lin. Blood 2008
Nadia Danilova, Kathleen M Sakamoto, Shuo Lin. Blood 2008
18
An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.
Benjamin L Ebert, Michele M Lee, Jennifer L Pretz, Aravind Subramanian, Raymond Mak, Todd R Golub, Colin A Sieff. Blood 2005
Benjamin L Ebert, Michele M Lee, Jennifer L Pretz, Aravind Subramanian, Raymond Mak, Todd R Golub, Colin A Sieff. Blood 2005
24
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.
Lydie Da Costa, Gil Tchernia, Philippe Gascard, Annie Lo, Joerg Meerpohl, Charlotte Niemeyer, Joel-Anne Chasis, Jason Fixler, Narla Mohandas. Blood 2003
Lydie Da Costa, Gil Tchernia, Philippe Gascard, Annie Lo, Joerg Meerpohl, Charlotte Niemeyer, Joel-Anne Chasis, Jason Fixler, Narla Mohandas. Blood 2003
30
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Vijay G Sankaran, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan H Beggs, Colin A Sieff, Stuart H Orkin, David G Nathan, Eric S Lander,[...]. J Clin Invest 2012
Vijay G Sankaran, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan H Beggs, Colin A Sieff, Stuart H Orkin, David G Nathan, Eric S Lander,[...]. J Clin Invest 2012
17
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
U Ramenghi, M F Campagnoli, E Garelli, A Carando, A Brusco, G P Bagnara, P Strippoli, G C Izzi, S Brandalise, R Riccardi,[...]. Blood Cells Mol Dis 2000
U Ramenghi, M F Campagnoli, E Garelli, A Carando, A Brusco, G P Bagnara, P Strippoli, G C Izzi, S Brandalise, R Riccardi,[...]. Blood Cells Mol Dis 2000
50
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak, Kvetoslava Petrtylova, Vladimir Mihal, Jan Stary, Zdena Cerna, Yahia Jabali, Dagmar Pospisilova. Hum Mutat 2009
Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak, Kvetoslava Petrtylova, Vladimir Mihal, Jan Stary, Zdena Cerna, Yahia Jabali, Dagmar Pospisilova. Hum Mutat 2009
21
Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect.
Yaw Ohene-Abuakwa, Karen A Orfali, Carine Marius, Sarah E Ball. Blood 2005
Yaw Ohene-Abuakwa, Karen A Orfali, Carine Marius, Sarah E Ball. Blood 2005
24
Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases.
B E Glader, K Backer. Br J Haematol 1988
B E Glader, K Backer. Br J Haematol 1988
23
Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry.
J M Lipton, N Federman, Y Khabbaze, C L Schwartz, L M Hilliard, J I Clark, A Vlachos. J Pediatr Hematol Oncol 2001
J M Lipton, N Federman, Y Khabbaze, C L Schwartz, L M Hilliard, J I Clark, A Vlachos. J Pediatr Hematol Oncol 2001
15
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
Rachel A Idol, Sara Robledo, Hong-Yan Du, Dan L Crimmins, David B Wilson, Jack H Ladenson, Monica Bessler, Philip J Mason. Blood Cells Mol Dis 2007
Rachel A Idol, Sara Robledo, Hong-Yan Du, Dan L Crimmins, David B Wilson, Jack H Ladenson, Monica Bessler, Philip J Mason. Blood Cells Mol Dis 2007
17
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Lynn A Gregory, Almass-Houd Aguissa-Touré, Noël Pinaud, Pierre Legrand, Pierre-Emmanuel Gleizes, Sébastien Fribourg. Nucleic Acids Res 2007
Lynn A Gregory, Almass-Houd Aguissa-Touré, Noël Pinaud, Pierre Legrand, Pierre-Emmanuel Gleizes, Sébastien Fribourg. Nucleic Acids Res 2007
33
Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.
Koich Miyake, Taiju Utsugisawa, Johan Flygare, Thomas Kiefer, Isao Hamaguchi, Johan Richter, Stefan Karlsson. Stem Cells 2008
Koich Miyake, Taiju Utsugisawa, Johan Flygare, Thomas Kiefer, Isao Hamaguchi, Johan Richter, Stefan Karlsson. Stem Cells 2008
29
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
Valérie Choesmel, Sébastien Fribourg, Almass-Houd Aguissa-Touré, Noël Pinaud, Pierre Legrand, Hanna T Gazda, Pierre-Emmanuel Gleizes. Hum Mol Genet 2008
Valérie Choesmel, Sébastien Fribourg, Almass-Houd Aguissa-Touré, Noël Pinaud, Pierre Legrand, Hanna T Gazda, Pierre-Emmanuel Gleizes. Hum Mol Genet 2008
18
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Hanna T Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros,[...]. Hum Mutat 2012
Hanna T Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros,[...]. Hum Mutat 2012
15
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
14
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.
R Cmejla, J Blafkova, T Stopka, J Zavadil, D Pospisilova, V Mihal, K Petrtylova, J Jelinek. Blood Cells Mol Dis 2000
R Cmejla, J Blafkova, T Stopka, J Zavadil, D Pospisilova, V Mihal, K Petrtylova, J Jelinek. Blood Cells Mol Dis 2000
35
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Ilenia Boria, Emanuela Garelli, Hanna T Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J Meerpohl, Mutlu Kartal, Lydie Da Costa,[...]. Hum Mutat 2010
Ilenia Boria, Emanuela Garelli, Hanna T Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J Meerpohl, Mutlu Kartal, Lydie Da Costa,[...]. Hum Mutat 2010
14
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
P Gustavsson, E Garelli, N Draptchinskaia, S Ball, T N Willig, D Tentler, I Dianzani, H H Punnett, F E Shafer, H Cario,[...]. Am J Hum Genet 1998
P Gustavsson, E Garelli, N Draptchinskaia, S Ball, T N Willig, D Tentler, I Dianzani, H H Punnett, F E Shafer, H Cario,[...]. Am J Hum Genet 1998
22
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
Andrew Chatr-Aryamontri, Mara Angelini, Emanuela Garelli, Gil Tchernia, Ugo Ramenghi, Irma Dianzani, Fabrizio Loreni. Hum Mutat 2004
Andrew Chatr-Aryamontri, Mara Angelini, Emanuela Garelli, Gil Tchernia, Ugo Ramenghi, Irma Dianzani, Fabrizio Loreni. Hum Mutat 2004
37
Translational efficiency in patients with Diamond-Blackfan anemia.
Jana Cmejlova, Ludmila Dolezalova, Dagmar Pospisilova, Kvetoslava Petrtylova, Jiri Petrak, Radek Cmejla. Haematologica 2006
Jana Cmejlova, Ludmila Dolezalova, Dagmar Pospisilova, Kvetoslava Petrtylova, Jiri Petrak, Radek Cmejla. Haematologica 2006
22
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
Alexis Proust, Lydie Da Costa, Patricia Rince, Anaely Landois, Hannah Tamary, Rina Zaizov, Gil Tchernia, Jean Delaunay. Hematol J 2003
Alexis Proust, Lydie Da Costa, Patricia Rince, Anaely Landois, Hannah Tamary, Rina Zaizov, Gil Tchernia, Jean Delaunay. Hematol J 2003
54
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Paola Quarello, Emanuela Garelli, Adriana Carando, Alfredo Brusco, Roberto Calabrese, Carlo Dufour, Daniela Longoni, Aldo Misuraca, Luciana Vinti, Anna Aspesi,[...]. Haematologica 2010
Paola Quarello, Emanuela Garelli, Adriana Carando, Alfredo Brusco, Roberto Calabrese, Carlo Dufour, Daniela Longoni, Aldo Misuraca, Luciana Vinti, Anna Aspesi,[...]. Haematologica 2010
21
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Michael Landowski, Marie-Françoise O'Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A Sieff, Peter E Newburger, Edyta Niewiadomska, Michal Matysiak,[...]. Hum Genet 2013
Michael Landowski, Marie-Françoise O'Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A Sieff, Peter E Newburger, Edyta Niewiadomska, Michal Matysiak,[...]. Hum Genet 2013
16
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Jason E Farrar, Adrianna Vlachos, Eva Atsidaftos, Hannah Carlson-Donohoe, Thomas C Markello, Robert J Arceci, Steven R Ellis, Jeffrey M Lipton, David M Bodine. Blood 2011
Jason E Farrar, Adrianna Vlachos, Eva Atsidaftos, Hannah Carlson-Donohoe, Thomas C Markello, Robert J Arceci, Steven R Ellis, Jeffrey M Lipton, David M Bodine. Blood 2011
13
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
15
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.