skip to main content
Language:
Results 1 2 3 4 5 next page
Show only
Refined by: collection: EBSCO_MEDLINE Complete（医学期刊全文数据库） remove subject: Genetic Aspects remove EZB Electronic Journals Library remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Material Type:
Article 		Add to e-Shelf

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Sankaran, Vijay G ; Ghazvinian, Roxanne ; Do, Ron ; Thiru, Prathapan ; Vergilio, Jo-Anne ; Beggs, Alan H ; Sieff, Colin A ; Orkin, Stuart H ; Nathan, David G ; Lander, Eric S ; Gazda, Hanna T

The Journal of clinical investigation, 2012-07, Vol.122 (7), p.2439-2443 [Peer Reviewed Journal]

United States: American Society for Clinical Investigation

Full text available

Citations Cited by
2
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia
Material Type:
Article 		Add to e-Shelf

Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia

Jaako, P ; Debnath, S ; Olsson, K ; Zhang, Y ; Flygare, J ; Lindström, M S ; Bryder, D ; Karlsson, S

Leukemia, 2015-11, Vol.29 (11), p.2221-2229 [Peer Reviewed Journal]

England: Nature Publishing Group

Full text available

Citations Cited by
3
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome
Material Type:
Article 		Add to e-Shelf

Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome

Sakamoto, K M ; Narla, A

Leukemia, 2018-02, Vol.32 (2), p.249-251 [Peer Reviewed Journal]

England: Nature Publishing Group

Full text available

Citations Cited by
4
Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia
Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia
Material Type:
Article 		Add to e-Shelf

Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia

Dun, Matthew D ; Mannan, Abdul ; Rigby, Callum J ; Butler, Stephen ; Toop, Hamish D ; Beck, Dominik ; Connerty, Patrick ; Sillar, Jonathan ; Kahl, Richard G S ; Duchatel, Ryan J ; Germon, Zacary ; Faulkner, Sam ; Chi, Mengna ; Skerrett-Byrne, David ; Murray, Heather C ; Flanagan, Hayley ; Almazi, Juhura G ; Hondermarck, Hubert ; Nixon, Brett ; De Iuliis, Geoff ; Chamberlain, Janis ; Alvaro, Frank ; de Bock, Charles E ; Morris, Jonathan C ; Enjeti, Anoop K ; Verrills, Nicole M

Leukemia, 2020-12, Vol.34 (12), p.3393-3397 [Peer Reviewed Journal]

England: Nature Publishing Group

Full text available

Citations Cited by
5
TGF-[beta] signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome.(CONCISE COMMUNICATION)
TGF-[beta] signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome.(CONCISE COMMUNICATION)
Material Type:
Article 		Add to e-Shelf

TGF-[beta] signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome.(CONCISE COMMUNICATION)

Joyce, Cailin E ; Saadatpour, Assieh ; Ruiz-Gutierrez, Melisa ; Bolukbasi, Ozge Vargel ; Jiang, Lan ; Thomas, Dolly D ; Young, Sarah ; Hofmann, Inga ; Sieff, Colin A ; Myers, Kasiani C ; Whangbo, Jennifer ; Libermann, Towia A ; Nusbaum, Chad ; Yuan, Guo- Cheng ; Shimamura, Akiko ; Novina, Carl D

The Journal of clinical investigation, 2019-09, Vol.129 (9), p.3821 [Peer Reviewed Journal]

American Society for Clinical Investigation

Full text available

Citations Cited by
6
Diamonds in the not-so-rough: Wild relative diversity hidden in crop genomes
Diamonds in the not-so-rough: Wild relative diversity hidden in crop genomes
Material Type:
Article 		Add to e-Shelf

Diamonds in the not-so-rough: Wild relative diversity hidden in crop genomes

Flint-Garcia, Sherry ; Feldmann, Mitchell J ; Dempewolf, Hannes ; Morrell, Peter L ; Ross-Ibarra, Jeffrey Ronald, Pamela C.

PLoS biology, 2023-07, Vol.21 (7), p.e3002235-e3002235 [Peer Reviewed Journal]

United States: Public Library of Science

Full text available

Citations Cited by
7
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes
Material Type:
Article 		Add to e-Shelf

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

Watkins-Chow, Dawn E ; Cooke, Joanna ; Pidsley, Ruth ; Edwards, Andrew ; Slotkin, Rebecca ; Leeds, Karen E ; Mullen, Raymond ; Baxter, Laura L ; Campbell, Thomas G ; Salzer, Marion C ; Biondini, Laura ; Gibney, Gretchen ; Phan Dinh Tuy, Françoise ; Chelly, Jamel ; Morris, H Douglas ; Riegler, Johannes ; Lythgoe, Mark F ; Arkell, Ruth M ; Loreni, Fabrizio ; Flint, Jonathan ; Pavan, William J ; Keays, David A Barsh, Gregory S.

PLoS genetics, 2013-01, Vol.9 (1), p.e1003094-e1003094 [Peer Reviewed Journal]

United States: Public Library of Science

Full text available

Citations Cited by
8
Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report
Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report
Material Type:
Article 		Add to e-Shelf

Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report

Tabassum, Shumaila ; Shah, Fatima Ashfaq ; O'Hare, Rachael

Journal of the Pakistan Medical Association, 2022-02, Vol.72 (2), p.357

Pakistan: Knowledge Bylanes

Full text available

Citations Cited by
9
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network
Material Type:
Article 		Add to e-Shelf

Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network

Khan, Abbas ; Ali, Arif ; Junaid, Muhammad ; Liu, Chang ; Kaushik, Aman Chandra ; Cho, William C S ; Wei, Dong-Qing

BMC systems biology, 2018-04, Vol.12 (Suppl 4), p.39, Article 39 [Peer Reviewed Journal]

England: BioMed Central Ltd

Full text available

Citations Cited by
10
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
Material Type:
Article 		Add to e-Shelf

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient

Shi, Xiaodong ; Huang, Xiaolan ; Zhang, Yu ; Cui, Xiaodai

BMC medical genetics, 2019-07, Vol.20 (1), p.120-120, Article 120 [Peer Reviewed Journal]

England: BioMed Central Ltd

Full text available

Citations Cited by
Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (6,389)

Refine My Results

Subject 

  1. Science & Technology  (5,864)
  2. Life Sciences & Biomedicine  (4,218)
  3. Humans  (2,915)
  4. Physiological Aspects  (2,448)
  5. Animals  (2,232)
  6. Gene Expression  (2,047)
  7. Genes  (2,030)
  8. Proteins  (1,996)
  9. Genomes  (1,963)
  10. Health Aspects  (1,916)
  11. Analysis  (1,804)
  12. Genetics & Heredity  (1,701)
  13. Science & Technology - Other Topics  (1,669)
  14. Multidisciplinary Sciences  (1,656)
  15. Biology And Life Sciences  (1,449)
  16. Genomics  (1,365)
  17. Female  (1,346)
  18. Male  (1,201)
  19. Mutation  (1,184)
  20. More options open sub menu

Creation Date 

From To
Refine
  1. Before2002  (16)
  2. 2002To2006  (95)
  3. 2007To2011  (1,371)
  4. 2012To2017  (2,721)
  5. After 2017  (2,254)
  6. More options open sub menu

Language 

  1. Japanese  (1,265)
  2. German  (11)
  3. Norwegian  (9)
  4. Portuguese  (7)
  5. Turkish  (1)
  6. More options open sub menu

  • Implemented by: ABCD-USP USP   Social Network Logos: Freepik

Searching Remote Databases, Please Wait

  • Searching for
  • inscope:(USP_VIDEOS),scope:("PRIMO"),scope:(USP_FISICO),scope:(USP_EREVISTAS),scope:(USP),scope:(USP_EBOOKS),scope:(USP_PRODUCAO),primo_central_multiple_fe
  • Show me what you have so far