Oncohematología y Genética

Genética humana y reproducción

Guillermo Antiñolo Gil
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla

Guillermo Antiñolo Gil

Volver al programa
  1. Miembros del grupo
  2. Áreas de trabajo
  3. Publicaciones

Grupo: Genética humana y reproducción

Directorio
Miembros del grupo Genética humana y reproducción
  • Antiñolo Gil, Guillermo.Doctor en Medicina y Cirugía. Jefe de Servicio/Profesor Titular (HUVR/Univ. de Sevilla).
  • González del Pozo, María.Lda en Farmacia. Predoctoral.
  • Lozano Arana, María Dolores.Lda en Medicina y Cirugía. FEA (HUVR).
  • Marcos Luque, Irene.Doctora en Farmacia. FEA (HUVR)
  • Matamala Zamarro, Nerea.Lda. en Biología. Predoctoral.
  • Peciña López, Ana María.Doctora en Biología. FEA (HUVR).
  • Sánchez Andújar, Beatriz.Lda. en Farmacia. FEA (HUVR).
  • Sánchez García, Francisco Javier.Ldo. en Biología. FEA (HUVR).

Áreas de trabajo

Distrofias hereditarias de retina
Degeneración progresiva de fotorreceptores; apoptosis; hetereogeneidad clínica y genética; retinosis pigmentaria autosómica recesiva; locus RP25; estudio molecular y funcional; ligamiento genético.

Medicina y terapia fetal
Anomalías congénitas, Cirugía fetal, EXIT (Ex utero intrapartum surgery).

Terapia celular
Derivación de líneas de células madres embrionarias humanas de preembriones afectos de enfermedades genéticas obtenidos tras diagnóstico genético preimplantacional. PGD; células madre; cultivo celular.

Cáncer de mama y/u ovario
Cáncer hereditario; estudio epidemiológico; BRCA1; BRCA2; estudios familiares.

Revistas Internacionales
Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G.
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
Brain Dev. 2011 Aug;33(7):608-11.
PubMed
Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, Mulligan LM, Borrego S.
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
J Mol Med (Berl). 2011 May;89(5):471-80.
PubMed
Alvarez R, García-Díaz L, Coserria F, Hosseinpour R, Antiñolo G.
Aortopulmonary window with atrial septal defect: Prenatal diagnosis, management and outcome.
Fetal Diagn Ther. 2011 Feb 18. [Epub ahead of print]
PubMed
Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, Borrego S.
Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.
PLoS One. 2011;6(8):e23475.
PubMed
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
Copy-Number variations in EYS: A Significant event in the appearance of arRP.
Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31.
PubMed
González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G.
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
PLoS One. 2011;6(12):e27894.
PubMed
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millan JM.
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7.
PubMed
Peciña A, Lozano Arana MD, García-Lozano JC, Borrego S, Antiñolo G
One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.
Fertil Steril. 2010 May 1;93(7):2411-2.
PubMed
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
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Am J Hum Genet. 2010 Jul 9;87(1):60-74.
PubMed
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.
EYS is a major gene for rod-cone dystrophies in France.
Hum Mutat. 2010 May;31(5):E1406-35.
PubMed
Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Hum Mutat. 2010 Nov;31(11):E1772-800.
PubMed
Sánchez-Mejías A, Watanabe Y, M Fernández R, López-Alonso M, Antiñolo G, Bondurand N, Borrego S.
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
J Mol Med. 2010 May;88(5):507-14.
PubMed
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.
Genet Med. 2010 Jan;12(1):39-43.
PubMed
Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72.
PubMed
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S.
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
BMC Med Genet. 2010 Sep 22;11:137.
PubMed
Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S.
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
BMC Med Genet. 2010 May 11;11:71.
PubMed
Antiñolo G, De Agustin JC, Losada A, Marenco ML, Garcia-Diaz L, Morcillo J.
Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion.
J Pediatr Surg. 2010 Feb;45(2):424-6.
PubMed
Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Human mutation 2009 May;30(5):771-5
PubMed
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S
Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.
Journal of medical genetics 2009 Dec;46(12):862-4
PubMed
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
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Human genetics 2009 Feb;125(1):29-39
PubMed
Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Investigative ophthalmology & visual science 2009 Mar;50(3):1065-8
PubMed
Fernández RM, Sánchez-Mejías A, Navarro E, López-Alonso M, Antiñolo G, Borrego S
The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.
Thyroid : official journal of the American Thyroid Association 2009 Sep;19(9):1017-8
PubMed
Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
BMC medical genetics 2009 ;10():119
PubMed
Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.
Annals of human genetics 2009 Jan;73(1):19-25
PubMed
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S
Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
Mol Med Reports 2009;2: 265-270. FI: Pendiente del ISCR 2009
Antiñolo G, de Agustín JC, Losada A, Ontanilla A, Perla AG
Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2009 Feb;104(2):143-4
PubMed
Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Nature genetics 2008 Nov;40(11):1285-7
PubMed
Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
Annals of human genetics 2008 Jul;72(Pt 4):463-77
PubMed
Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
Annals of human genetics 2008 Jul;72(Pt 4):454-62
PubMed
Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso M, Antiñolo G, Borrego S
Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.
Journal of pediatric surgery 2008 Nov;43(11):2042-7
PubMed
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S
NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.
Journal of pediatric surgery 2008 Jul;43(7):1308-11
PubMed
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,
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008 Jan;45(1):1-14
PubMed
Corveleyn A, Morris MA, Dequeker E, Sermon K, Davies JL, Antiñolo G, Schmutzler A, Vanecek J, Nagels N, Zika E, Palau F, Ibarreta D
Provision and quality assurance of preimplantation genetic diagnosis in Europe.
European journal of human genetics : EJHG 2008 Mar;16(3):290-9
PubMed
Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
Annals of human genetics 2008 Jan;72(Pt 1):26-34
PubMed
Cortes JL, Antiñolo G, Martínez L, Cobo F, Barnie A, Zapata A, Menendez P
Spanish stem cell bank interviews examine the interest of couples in donating surplus human IVF embryos for stem cell research.
Cell stem cell 2007 Jun;1(1):17-20
PubMed
Ruiz-Ferrer M, Antiñolo G, Aguilar-Reina J
Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients.
Journal of viral hepatitis 2007 Apr;14(4):293-4
PubMed
Carrillo-Vadillo R, García-Lozano JC, Lozano Arana MD, Moliní Rivera JL, Sánchez Martín P, Antiñolo G
Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.
Fertility and sterility 2007 Dec;88(6):1676.e3-5
PubMed
Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Investigative ophthalmology & visual science 2007 Mar;48(3):985-90
PubMed
Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Antiñolo G, Pang CP, Bhattacharya SS
A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.
Annals of human genetics 2007 May;71(Pt 3):281-94
PubMed
Otras publicaciones
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S.
Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
Molecular Medicine Reports 2: 265-270, 2009.