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FGF9 mutation causes craniosynostosis along with multiple synostoses.
Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25.
Hum Mutat. 2017.
PMID: 28730625
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE.
Hisado-Oliva A, et al. Among authors: rodriguez zabala m.
Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28.
Genet Med. 2018.
PMID: 28661490
Free article.
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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE.
Díaz-González F, et al. Among authors: rodriguez zabala m.
J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26.
J Med Genet. 2022.
PMID: 33106379
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Combined GLUT1 and OXPHOS inhibition eliminates acute myeloid leukemia cells by restraining their metabolic plasticity.
Rodriguez-Zabala M, Ramakrishnan R, Reinbach K, Ghosh S, Oburoglu L, Falqués-Costa A, Bellamkonda K, Ehinger M, Peña-Martínez P, Puente-Moncada N, Lilljebjörn H, Cammenga J, Pronk CJ, Lazarevic V, Fioretos T, Hagström-Andersson AK, Woods NB, Järås M.
Rodriguez-Zabala M, et al.
Blood Adv. 2023 Sep 26;7(18):5382-5395. doi: 10.1182/bloodadvances.2023009967.
Blood Adv. 2023.
PMID: 37505194
Free PMC article.
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CXCR4 Signaling Has a CXCL12-Independent Essential Role in Murine MLL-AF9-Driven Acute Myeloid Leukemia.
Ramakrishnan R, Peña-Martínez P, Agarwal P, Rodriguez-Zabala M, Chapellier M, Högberg C, Eriksson M, Yudovich D, Shah M, Ehinger M, Nilsson B, Larsson J, Hagström-Andersson A, Ebert BL, Bhatia R, Järås M.
Ramakrishnan R, et al. Among authors: rodriguez zabala m.
Cell Rep. 2020 May 26;31(8):107684. doi: 10.1016/j.celrep.2020.107684.
Cell Rep. 2020.
PMID: 32460032
Free PMC article.
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