Oncohematología y Genética

Genética clínica y medicina genómica

2020
Revista Internacional

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification

Martin-Sanchez, M; Bravo-Gil, N; Gonzalez-del Pozo, M; Mendez-Vidal, C; Fernandez-Suarez, E; Rodriguez-de la Rua, E; Borrego, S; Antinolo, G

Vol: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Revista Internacional
Revista Internacional

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

Mederer, T; Schmitteckert, S; Volz, J; Martinez, C; Roth, R; Thumberger, T; Eckstein, V; Scheuerer, J; Thoni, C; Lasitschka, F; Carstensen, L; Gunther, P; Holland-Cunz, S; Hofstra, R; Brosens, E; Rosenfeld, JA; Schaaf, CP; Schriemer, D; Ceccherini, I; Rusmini, M; Tilghman, J; Luzon-Toro, B; Torroglosa, A; Borrego, S; Tang, CSM; Garcia-Barcelo, M; Tam, P; Paramasivam, N; Bewerunge-Hudler, M; De La Torre, C; Gretz, N; Rappold, GA; Romero, P; Niesler, B

Vol: PLOS GENETICS Revista Internacional
Revista Internacional

ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease

Villalba-Benito, L; Torroglosa, A; Luzon-Toro, B; Fernandez, RM; Moya-Jimenez, MJ; Antinolo, G; Borrego, S

Vol: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Revista Internacional
Revista Internacional

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

Torroglosa, A; Villalba-Benito, L; Fernandez, RM; Luzon-Toro, B; Moya-Jimenez, MJ; Antinolo, G; Borrego, S

Vol: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Revista Internacional
Revista Internacional

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Gonzalez-del Pozo, M; Fernandez-Suarez, E; Martin-Sanchez, M; Bravo-Gil, N; Mendez-Vidal, C; Rodriguez-de La Rua, E; Borrego, S; Antinolo, G

Vol: JOURNAL OF TRANSLATIONAL MEDICINE Revista Internacional
Revista Internacional

What is new about the genetic background of Hirschsprung disease?

Luzon-Toro, B; Villalba-Benito, L; Torroglosa, A; Fernandez, RM; Antinolo, G; Borrego, S

Vol: CLINICAL GENETICS Revista Internacional
2019
Revista Internacional

Epigenetic Mechanisms in Hirschsprung Disease.

Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S

Vol: Int J Mol Sci. Revista Internacional
Revista Internacional

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.

Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S

Vol: Medicine (Baltimore). Revista Internacional
Revista Internacional

Identification of new long non-coding RNAs associated with Medullary Thyroid Cancer

Luzón-Toro Berta, Fernández Raquel M, Martos-Martínez Juan Manuel, Antiñolo Guillermo, Borrego Salud

Vol: Oral Health and Care. Revista Internacional
Revista Internacional

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.

Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S

Vol: Genes (Basel). Revista Internacional
Revista Internacional

LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.

Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S

Vol: Sci Rep. Revista Internacional
Revista Internacional

What are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?.

Berta Luzón Toro; Raquel María Fernández; Ana Torroglosa; Leticia Villalba Benito; Guillermo Antiñolo; Salud Borrego

Vol: Annals Thyroid Res. Revista Internacional
2018
Revista Internacional

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.

Vol: NeuromusculDisord Revista Internacional
Revista Internacional

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.

Vol: Sci Rep. Revista Internacional
2017
Revista Internacional

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics

Núñez-Ramos R, Fernández RM, González-Velasco M, Ruiz-Contreras J, Galán-Gómez E, Núñez-Núñez R, Borrego S.

Vol: PediatrDevPathol Revista Internacional
Revista Internacional

Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novomethyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.

Torroglosa A, Villalba-Benito L, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Borrego S.

Vol: Oncotarget. Revista Internacional
Revista Internacional

ESR2 Gene and Medullary Thyroid Carcinoma.

Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S

Vol: Thyroid. Revista Internacional
Revista Internacional

Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RETM918TTumors.

Mancikova V, Montero-Conde C, Perales-Patón J, Fernández A, Santacana M, Jodkowska K, Inglada-Pérez L, Castelblanco E, Borrego S, Encinas M, Matías-Guiu X, Fraga M, Robledo M.

Vol: ClinCancer Res Revista Internacional
Revista Internacional

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.

Vol: Neurologia Revista Internacional
Revista Internacional

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.

Villalba-Benito L, Torroglosa A, Fernández RM, Ruíz-Ferrer M, Moya-Jiménez MJ, Antiñolo G, Borrego S.

Vol: Sci Rep. Revista Internacional
Revista Internacional

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.

Fernández RM, Lozano-Arana MD, Sánchez B, Peciña A, García-Lozano JC, Borrego S, Antiñolo G.

Vol: Biomed Res Int. Revista Internacional
Revista Internacional

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.

Fernández-Perea Y, García-Díaz L, Sánchez J, Antiñolo G, Borrego S.

Vol: Case RepObstetGynecol. Revista Internacional
Revista Internacional

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.

Vol: Sci Rep Revista Internacional
Revista Internacional

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.

Vol: Genome Biol Revista Internacional
2011
2010
Revista Internacional

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A.

Vol: Am J Hum Genet. 2010 Jul 9;87(1):60-74. Revista Internacional
2009
Revista Internacional

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S

Vol: Mol Med Reports 2009;2: 265-270. FI: Pendiente del ISCR 2009 Revista Internacional
Revista Internacional

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF

Vol: Human genetics 2009 Feb;125(1):29-39 Revista Internacional
2008
Revista Internacional

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S,Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R.

Vol: Journal of medical genetics 2008 Jan;45(1):1-14 Revista Internacional
2007
Revista Internacional

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.

Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M,

Vol: Cancer research 2007 Oct;67(19):9561-7 Revista Internacional
2006
2005