G Antinolo

Summary

Country: Spain

Publications

  1. pmc Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14
    Javier Sanchez
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC, Universidad de Sevilla, 41013 Seville, Spain
    Case Rep Genet 2012:794075. 2012
  2. pmc Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
    Lutgardo Garcia-Diaz
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocio, CSIC, Universidad de Sevilla, 41013 Sevilla, Spain
    Case Rep Obstet Gynecol 2013:472356. 2013
  3. pmc Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa
    Isabel Barragan
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    Hum Mutat 31:E1772-800. 2010
  4. pmc Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β-Thalassemia
    Raquel M Fernandez
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Avenida Manuel Siurot, S N, 41013 Seville, Spain
    Biomed Res Int 2013:585106. 2013
  5. pmc Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
    Cristina Méndez-Vidal
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Seville, Spain
    Mol Vis 19:2187-95. 2013
  6. pmc Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease
    Raquel Ma Fernández
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain
    Orphanet J Rare Dis 7:103. 2012
  7. pmc Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome
    Lutgardo Garcia-Diaz
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Pregnancy Childbirth 12:72. 2012
  8. pmc Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 12:138. 2011
  9. pmc A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocio, Manuel Siurot s n, Seville, 41013, Spain
    BMC Med Genet 10:119. 2009
  10. pmc Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
    Raquel M Fernandez
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 11:137. 2010

Collaborators

  • A Ruiz
  • Salud Borrego
  • Joaquin Dopazo
  • Carmen Ayuso
  • A Losada
  • Isabelle Audo
  • Christina Zeitz
  • M Lopez-Alonso
  • M Ruiz-Ferrer
  • M Robledo
  • X Gao
  • F A Wright
  • C Eng
  • O Gimm
  • M López Alonso
  • A Hernandez
  • M B Sánchez-Arjona
  • Raquel M Fernandez
  • Rocío Núñez-Torres
  • Lutgardo Garcia-Diaz
  • R M Fernandez
  • I Barragan
  • A Sánchez-Mejías
  • Cristina Méndez-Vidal
  • M L Marenco
  • Javier Sanchez
  • Raquel Ma Fernández
  • Martina Marbà
  • María González-del Pozo
  • Isabel Barragan
  • Avencia Sánchez-Mejías
  • S S Bhattacharya
  • Montserrat Baiget
  • M M Abd El-Aziz
  • M F El-Ashry
  • María José Gamundi
  • J Aguilar-Reina
  • M Bernal Sánchez-Arjona
  • A Ontanilla
  • Francisco J López-Domingo
  • Carmen Vázquez-Marouschek
  • R Torrejon
  • J Marquez
  • Ana Pecina
  • L Garcia-Diaz
  • Alicia Vela-Boza
  • Félix Coserria
  • Juan Carlos García-Lozano
  • Maria Dolores Lozano-Arana
  • Javier Santoyo-Lopez
  • M Rivero
  • J A Sainz
  • Berta Luzón-Toro
  • Ignacio Medina
  • Susana Costa-Pereira
  • Marta Bleda
  • Luz Garcia-Alonso
  • David Chinchón
  • Ana Torroglosa
  • Ma Valle Enguix-Riego
  • David Montaner
  • Práxedes Carreto
  • Juan Carlos de Agustín
  • Luis Castano
  • Maria Del Valle Enguix-Riego
  • Manuel Jesus Acosta
  • Jose M Millan
  • Juan Ignacio Pieras
  • M E Saez
  • Mai M Abd El-Aziz
  • Karin W Littink
  • Antonio Gonzalez-Meneses
  • Javier Santoyo
  • Marcela Mena
  • Shomi S Bhattacharya
  • M D Mena
  • C O'Driscoll
  • L Abu-Safieh
  • Maria Martínez-Gimeno
  • Imma Hernan
  • Blanca Garcia-Sandoval
  • Miguel Carballo
  • Miquel Maseras
  • J A Noval
  • J L Moliní
  • M A Pizarro
  • J C García-Lozano
  • I Chinchón-Lara
  • J Bautista-Lorite
  • P Travado-Soria

Detail Information

Publications32

  1. pmc Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14
    Javier Sanchez
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC, Universidad de Sevilla, 41013 Seville, Spain
    Case Rep Genet 2012:794075. 2012
    ..We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings...
  2. pmc Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome
    Lutgardo Garcia-Diaz
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocio, CSIC, Universidad de Sevilla, 41013 Sevilla, Spain
    Case Rep Obstet Gynecol 2013:472356. 2013
    ..Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction...
  3. pmc Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa
    Isabel Barragan
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    Hum Mutat 31:E1772-800. 2010
    ..Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study...
  4. pmc Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β-Thalassemia
    Raquel M Fernandez
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Avenida Manuel Siurot, S N, 41013 Seville, Spain
    Biomed Res Int 2013:585106. 2013
    ..This strategy has allowed us to considerably reduce the optimization of the PCR method for each specific PGD-HLA family as well as the time to obtain molecular results in each cycle...
  5. pmc Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
    Cristina Méndez-Vidal
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Seville, Spain
    Mol Vis 19:2187-95. 2013
    ..In the present study, we investigated the genetic cause of autosomal recessive RP (arRP) in a Spanish family in which the causal mutation has not yet been identified with primer extension technology and resequencing...
  6. pmc Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease
    Raquel Ma Fernández
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville IBIS, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain
    Orphanet J Rare Dis 7:103. 2012
    ..This approach, based on the study of functionally-related gene sets, requires of lower sample sizes and opens new opportunities for the study of rare diseases...
  7. pmc Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome
    Lutgardo Garcia-Diaz
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Pregnancy Childbirth 12:72. 2012
    ..Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality...
  8. pmc Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 12:138. 2011
    ..In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of both RET rare variants (RVs) and common variants (CVs) in the context of the disease...
  9. pmc A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique
    Rocío Núñez-Torres
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocio, Manuel Siurot s n, Seville, 41013, Spain
    BMC Med Genet 10:119. 2009
    ....
  10. pmc Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
    Raquel M Fernandez
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 11:137. 2010
    ..In approximately 18% of the cases HSCR also presents with multiple congenital anomalies including recognized syndromes...
  11. pmc Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease
    Avencia Sánchez-Mejías
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla IBiS, Hospitales Universitarios Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain
    BMC Med Genet 11:71. 2010
    ..In this study, we have looked for CNVs in some of the genes related to Hirschsprung (EDNRB, GFRA1, NRTN and PHOX2B) using the Multiple Ligation-dependent Probe Amplification (MLPA) approach...
  12. pmc Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
    María José Gamundi
    Servicio de Laboratorio, Hospital de Terrassa, Ctra, Torrebonica s n 08227 Terrassa, Barcelona, Espana
    BMC Med Genet 7:35. 2006
    ..Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most of these mutations are clustered in a 500 bp region of exon 4 of RP1...
  13. ncbi request reprint Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis
    G Antinolo
    Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Avda Manuel Siurot s n, 41013 Seville, Spain
    Mol Hum Reprod 10:155-7. 2004
    ....
  14. ncbi request reprint Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain
    G Antinolo
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Avda Manuel Siurot s n 41013, Seville, Spain
    Mol Hum Reprod 9:491-5. 2003
    ..These data are consistent with the lack of association between these polymorphisms and endometriosis in our population. They do not exclude completely a possible role of other variants within RANTES gene in this pathology...
  15. doi request reprint Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion
    Guillermo Antinolo
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospitales Universitarios Virgen del Rocio, 41013 Sevilla, Spain
    J Pediatr Surg 45:424-6. 2010
    ..After birth, the patient successfully underwent early correction of the hernia. Postoperative course was uneventful, and the newborn girl was discharged 18 days later without complications and is currently doing well...
  16. ncbi request reprint Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population
    A Ruiz
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
    Clin Endocrinol (Oxf) 55:399-402. 2001
    ..Thus, we sought to determine if the S836S variant would be associated with sporadic MTC from a completely different population base, that of Andalucia...
  17. ncbi request reprint Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs
    I Barragan
    Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Ann Hum Genet 72:26-34. 2008
    ....
  18. doi request reprint Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families
    I Barragan
    Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Seville, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Seville, Spain
    Ann Hum Genet 72:454-62. 2008
    ..Furthermore, the finding of a crossover in one of these families is likely to have refined the disease interval from the original 16 cM to only a 2.67 cM region between D6S257 and D6S1557...
  19. ncbi request reprint A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?
    M E Saez
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
    Hum Mutat 15:122. 2000
  20. ncbi request reprint Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis
    R M Fernandez
    Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Int J Mol Med 15:865-9. 2005
    ..A complete genetic analysis of the genes involved in the intricate regulatory system of the apoptosis may lead to the identification of susceptibility factors for the disease and a better understanding of its etiology...
  21. doi request reprint Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family
    A Sánchez-Mejías
    Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocio, Seville, Spain
    J Med Genet 46:862-4. 2009
    ..Although HSCR commonly appears as a sporadic trait, approximately 20% of HSCR cases are familial, with complex patterns of inheritance...
  22. doi request reprint A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease
    R M Fernandez
    Unidad de Gestión Clínica de Genética, Reproducción, y Medicina Fetal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Ann Hum Genet 73:19-25. 2009
    ..In addition, it is quite probable that the contribution of other still unidentified modifier genes, may be responsible for the different phenotypes (length of aganglionosis) in the two affected members...
  23. ncbi request reprint The -670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C
    J Aguilar-Reina
    Servicio Aparato Digestivo, Seccion de Hepatologia, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
    J Viral Hepat 12:568-73. 2005
    ..012). In conclusion, our findings suggest an association between the -670A > G polymorphism and the grade of necrosis in periportal areas in patients with chronic hepatitis C...
  24. ncbi request reprint Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies
    M Ruiz-Ferrer
    Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    J Viral Hepat 11:319-23. 2004
    ..Our results seem to indicate that the CCR5-Delta 32 and CCR2-V64I polymorphisms are not related to the response to HCV infection, histological damage and outcome of infection in our cohort of Spanish HCV patients...
  25. pmc A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
    A Ruiz
    Unidad de Genetica, Hospital Universitario Virgen del Rocio, Seville, Spain
    Am J Hum Genet 62:1452-9. 1998
    ..This region contains subunits GABRR1 and GABRR2 of the GABA-C receptor, which is the effector of lateral inhibition at the retina...
  26. pmc RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
    S Borrego
    Unidad de Genética Medica y Diagnóstico Prenatal, Hospital Universitario Virgen del Rocio, Sevilla, Spain
    J Med Genet 37:572-8. 2000
    ..Recently, we and others have noted that specific polymorphic sequence variants, notably A45A (exon 2), are over-represented in isolated HSCR...
  27. ncbi request reprint [Analysis of 18 cases of Becker muscular dystrophy]
    M Bernal Sánchez-Arjona
    Unidad de Neuromuscular, Servicio de Neurolgía, Hospital Universitario Virgen del Rocio, Sevilla, Spain
    Rev Neurol 38:1090-2. 2004
  28. pmc Spanish family with myalgia and cramps syndrome
    M B Sánchez-Arjona
    Neurology Service, University Hospital Virgen del Rocio, Seville, Spain
    J Neurol Neurosurg Psychiatry 76:286-9. 2005
    ..DNA analysis showed a deletion of the dystrophin gene involving exons 45-52. The natural history of this disorder and the large intrafamilial clinical variability are discussed...
  29. ncbi request reprint Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa
    G Antinolo
    Unidad de Genética Médica, Hospital Universitario Virgen del Rocio, Sevilla, Spain
    Hum Mol Genet 3:1421. 1994
  30. doi request reprint [Intrauterine myelomeningocele repair: experience of the fetal medicine and therapy program of the Virgen de Rocío University Hospital]
    M L Marenco
    Hospital Universitario Virgen del Rocio, Sevilla, Espana
    Rev Esp Anestesiol Reanim 60:47-53. 2013
    ..We describe our experience of the intrauterine repair of fetal myelomeningocele through open fetal surgery...
  31. ncbi request reprint [From dysmorphology to genetics]
    G Antinolo
    Hospital Universitario Virgen del Rocio, Sevilla, Espana
    Rev Neurol 35:53-8. 2002
    ..Consider how the advances in molecular medicine in recent years have lead to a great improvement in understanding dysmorphogenesis and the diagnosis of different syndromes of multiple congenital anomalies and mental retardation (ACM/RM)...