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List of works by Maria Apellaniz-Ruiz

A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Typ

scientific article published on 25 April 2019

A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?

scientific article published on 22 June 2020

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.

scientific article

Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy

scientific article published on 23 November 2018

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

scientific article published on 01 March 2020

DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma

scientific article published on 28 March 2020

DICER1-Associated Embryonal Rhabdomyosarcoma and Adenosarcoma of the Gynecologic Tract: Pathology, Molecular Genetics and Indications for Molecular Testing

scientific article published on 02 November 2020

Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation

scientific article published in November 2017

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

scientific article published on 29 November 2017

Functional and in silico assessment of MAX variants of unknown significance

scientific article

Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy

scientific article

Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients

scientific article published on 21 December 2014

Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients.

scientific article published on 18 December 2017

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

scientific article published on 01 May 2019

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer

scientific article published on 20 July 2017

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

scientific article published on 12 August 2015

SNPs associated with activity and toxicity of cabazitaxel in patients with advanced urothelial cell carcinoma

scientific article published on 29 March 2016

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

scientific article published on 31 August 2016

VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma.

scientific article

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

scientific article

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