P. Carbonell

发表

MLH1 germline epimutations in selected patients with early‐onset non‐polyposis colorectal cancer

M. Urioste, J. Benítez, L. Valle, 2007, Clinical genetics.

Leukemic transformation driven by an ASXL1 mutation after a JAK2V617F-positive primary myelofibrosis: clonal evolution and hierarchy revealed by next-generation sequencing

G. Soler, B. Bellosillo, V. Vicente, 2013, Journal of Hematology & Oncology.

Biomarkers for the identification of precursor polyps of colorectal serrated adenocarcinomas

P. Conesa‐Zamora, J. Trujillo-Santos, J. García‐Solano, 2016, Cellular Oncology.

Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics.

M. Urioste, M. Hidalgo, R. González-Sarmiento, 2010, World journal of gastroenterology.

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

X. Estivill, H. Kruyer, M. Milá, 1994, American journal of human genetics.

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

M. Urioste, R. Andrés, J. Rosell, 2021, Orphanet Journal of Rare Diseases.

Microsatellite pathologic score does not efficiently identify high microsatellite instability in colorectal serrated adenocarcinoma.

V. Vicente-Ortega, P. Conesa‐Zamora, J. Trujillo-Santos, 2013, Human pathology.

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing

T. Casals, M. Moya-Quiles, I. González-Gallego, 2009, Clinical genetics.

Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center.

P. Parrilla, A. Ríos, J. Sola, 2002, Journal of the American College of Surgeons.

Colorectal serrated adenocarcinoma shows a different profile of oncogene mutations, MSI status and DNA repair protein expression compared to conventional and sporadic MSI‐H carcinomas

P. Conesa‐Zamora, J. Trujillo-Santos, J. García‐Solano, 2012, International journal of cancer.

A Novel Founder Mutation in MYBPC 3 : Phenotypic Comparison With the Most Prevalent MYBPC 3 Mutation in Spain Marı́a

R. Barriales-Villa, D. Saura, J. González-Carrillo, 2019 .

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.

M. Sabater-Molina, R. Barriales-Villa, M. J. Oliva-Sandoval, 2017, Revista espanola de cardiologia.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Resistance to Selumetinib (AZD6244) in Colorectal Cancer Cell Lines is Mediated by p70S6K and RPS6 Activation1

F. Carballo, E. Carrasco-García, J. Ferragut, 2014, Neoplasia.

FRAXE and mental retardation.

D. Loesch, S. Yu, A. Donnelly, 1995, Journal of medical genetics.

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

X. Estivill, H. Kruyer, V. Volpini, 1994, Human Genetics.

Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status.

M. Urioste, J. Benítez, L. Valle, 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Malignant prediction in paragangliomas: analysis for clinical risk factors

A. Ríos, N. Torregrosa, J. Rodríguez, 2021, Langenbeck's Archives of Surgery.

When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista.

J. Corral, V. Vicente, F. Bauduer, 2020, Medical hypotheses.

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.

J. Corral, V. Vicente, F. Bauduer, 2019, Blood.

Global Methylome Scores Correlate with Histological Subtypes of Colorectal Carcinoma and Show Different Associations with Common Clinical and Molecular Features

A. Conesa, V. Whitehall, F. Pérez-Sanz, 2021, Cancers.

FMR2 expression in families with FRAXE mental retardation.

E. Haan, J. Gécz, B. Oostra, 1997, Human molecular genetics.

[Central serous corioretinopathy in adult onset foveomacular vitelliform dystrophy].

P. Carbonell, J. Pinos, A. Gonzalvo, 2008, Archivos de la Sociedad Espanola de Oftalmologia.

FRAXE mutation analysis in three Spanish families.

M. Guitart, E. Gabau, P. Carbonell, 1996, American journal of medical genetics.

Fragile X screening program in a Spanish region.

P. Carbonell, G. Glóver, J. Gabarrón, 1992, American journal of medical genetics.

Biomarkers for the identification of precursor polyps of colorectal serrated adenocarcinomas

P. Conesa‐Zamora, J. Trujillo-Santos, J. García‐Solano, 2016, Cellular Oncology.

Comparison of allelic discrimination by dHPLC, HRM, and TaqMan in the detection of BRAF mutation V600E.

P. Conesa‐Zamora, J. García‐Solano, I. Molina-Martínez, 2011, The Journal of molecular diagnostics : JMD.

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

E. Guillén-Navarro, M. Sánchez-Solís, P. Carbonell, 2004, Annals of human genetics.

Prophylactic intravenous ondansetron in patients undergoing cataract extraction under general anesthesia.

F. Ascaso, A. Palomar, P. Carbonell, 1997, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.

M. Sabater-Molina, R. Barriales-Villa, M. J. Oliva-Sandoval, 2017, Revista espanola de cardiologia.

Microsatellite pathologic score does not efficiently identify high microsatellite instability in colorectal serrated adenocarcinoma.

P. Conesa‐Zamora, J. Trujillo-Santos, J. García‐Solano, 2013, Human pathology.