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List of works by Inigo Santamaria

A new type of NPM1 gene mutation in AML leading to a C-terminal truncated protein

scientific article published on 05 April 2007

A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms

scientific article published on 01 October 2003

A t(1;9) translocation involving CSF3R as a novel mechanism in unclassifiable chronic myeloproliferative neoplasm.

scientific article published on 21 September 2017

ABL alternative splicing is quite frequent in normal population - letter.

scientific article published on 2 March 2010

Carbohydrate- and conformation-dependent cargo capture for ER-exit

scientific article

Cathepsin L2, a novel human cysteine proteinase produced by breast and colorectal carcinomas ⬇️

scientific article published on April 15, 1998

Cathepsin Z, a novel human cysteine proteinase with a short propeptide domain and a unique chromosomal location

scientific article

Chromosomal aberrations, the consequence of refractory hyperparathyroidism: its relationship with biochemical parameters.

scientific article published in June 2003

Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.

scientific article published on 11 March 2004

EGFR L858R mutation may go undetected because of P848L in cis mutation.

scientific article published on 29 July 2013

Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

scientific article

Impact of PI3K/AKT/mTOR pathway activation on the prognosis of patients with head and neck squamous cell carcinomas.

scientific article published on 23 April 2016

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain) ⬇️

scientific article published on May 17, 2013

Progression of secondary hyperparathyroidism involves deregulation of genes related to DNA and RNA stability.

scientific article

Prostate-specific membrane antigen in breast carcinoma

scientific article published in The Lancet

Response of parathyroid glands to calcitriol in culture: Is this response mediated by the genetic polymorphisms in vitamin D receptor?

scientific article published in June 2003

Structural and enzymatic characterization of Drosophila Dm2-MMP, a membrane-bound matrix metalloproteinase with tissue-specific expression.

scientific article published on 19 April 2002

Transplacental transfer of essential thrombocythemia in monozygotic twins.

scientific article

[Chromosome abnormalities in hyperparathyroidism: utility of comparative genomic hybridization in the study of parathyroid hyperplasias]

scientific article published on 01 January 2003

[Etiopathogenicity of primary, secondary, and tertiary hyperparathyroidism: implications of molecular changes in treatment failure]

scientific article published on 01 January 2002

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