Oncohematología y Genética

Genética humana y reproducción

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

Artificial Intelligence in Pregnancy: A Scoping Review

Oprescu, AM; Miro-Amarante, G; Garcia-Diaz, L; Beltran, LM; Rey, VE; Romero-Ternero, M

Vol: IEEE ACCESS Revista Internacional
Revista Internacional

Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses

Garcia-Diaz, L; Chimenea, A; de Agustin, JC; Pavon, A; Antinolo, G

Vol: BMC PREGNANCY AND CHILDBIRTH Revista Internacional
Revista Internacional

Prenatal diagnostic techniques and IVF in patients with coagulopathies

Garcia-Lozano, JC; Lozano-Arana, MD

Vol: BLOOD COAGULATION & FIBRINOLYSIS 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
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

Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality.

Chimenea Á, García-Díaz L, Moreno-De Las Heras M, Coserria F, Antiñolo G

Vol: J Obstet Gynaecol. Revista Internacional
Revista Internacional

Identification of new long non-coding RNAs associated with medullary thyroid cancer.

Luzón Toro B, Fernández García RM, Martos Martínez JM, Antiñolo G, Borrego S

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

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M

Vol: Ann Clin Transl Neurol. Revista Internacional
Revista Internacional

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E

Vol: Ophthalmic Genet. Revista Internacional
Revista Internacional

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

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

Vol: Annals of Thyroid Research. Revista Internacional
Revista Internacional

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Rett Working Group

Vol: Sci Rep Revista Internacional
2018
Revista Internacional

MLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression.

Burillo-Sanz S, Morales-Camacho RM, Caballero-Velázquez T, Carrillo E, Sánchez J, Pérez-López O, Pérez de Soto I, González Campos J, Prats-Martín C, Bernal R, Vargas MT.

Vol: Eur J Haematol. Revista Internacional
Revista Internacional

Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.

Chimenea A, García-Díaz L, Calderón AM, Heras MML, Antiñolo G.

Vol: BMC PregnancyChildbirth. Revista Internacional
Revista Internacional

Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.

Delgado Pecellín I, Pérez Ruiz E, Álvarez Ríos AI, Delgado Pecellín C, Yahyaoui Macías R, Carrasco Hernández L, Marcos Luque I, Caro Aguilera P, Moreno Valera MJ, Quintana Gallego ME.

Vol: Arch Bronconeumol. 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

Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase 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

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

TGA+VSD and Subpulmonary Conus: From Fetus to a 3-dimensional Model

Manso B, García-Díaz L, Valverde I.

Vol: RevEspCardiol (Engl Ed). Revista Internacional
Revista Internacional

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J, Rett Working Group.

Vol: Sci Rep. Revista Internacional
Libro o artículo

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. Libro o artículo
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, Borr

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

EYS is a major gene for rod-cone dystrophies in France.

Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.

Vol: Hum Mutat. 2010 May;31(5):E1406-35. 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
Libro o artículo

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B? (1)

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

Vol: Molecular Medicine Reports 2: 265-270, 2009. Libro o artículo
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
2006
2005
Revista Internacional

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A

Vol: Human molecular genetics 2005 Dec;14(24):3865-75 Revista Internacional
Revista Internacional

Spanish family with myalgia and cramps syndrome.

Sánchez-Arjona MB, Rodríguez-Uranga JJ, Giles-Lima M, Fernández-García R, Chinchón-Lara I, Antiñolo G, Bautista-Lorite J

Vol: Journal of neurology, neurosurgery, and psychiatry 2005 Feb;76(2):286-9 Revista Internacional
2004
2003
2002