Investigación en Enfermedades Raras

  • Enfermedades de impronta:
    • El pseudohipoparatiroidismo como modelo.
    • Caracterización de elementos reguladores de impronta.
    • Reproducción asistida y alteraciones epigenéticas.
    • Terapia génica en enfermedades de impronta.
  • Braquidactilia.
  • Metabolismo fosfo-cálcico.
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients..
Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G.

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 184, 311-320. 2021
Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion..
Vado Y, Pereda A, Llano-Rivas I, Gorria-Redondo N, Díez I, Perez de Nanclares G.

GENES, 11, 1461. 2020
Novel variants in the AVP-NPII gene associated with neurohypophyseal diabetes insipidus.
Garcia, A., Madariaga, L., Perez de Nanclares, G., Vela, A., Rica, I., Gaztambide, S., Martinez, R., Martinez de LaPiscina, I., Urrutia, I., Aguayo, A., Velasco, O., Castano, L..

EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 815-815. 2020
DOI:
Novel variant in PLAG1 in a familiar case of Silver-Russell syndrome.
Pereda, A., Vado, Y., Llano-Rivas, I., Gorria-Redondo, N., Diez, I., Perez de Nanclares, G..

EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 253-254. 2020
DOI:
Prenatal and foetal autopsy findings in glutaric aciduria type II..
Martinez-Aracil, Adriano, Ruiz-Onandi, Rebeca, Perez-Rodriguez, Alvaro, Sagasta, Amaia, Llano-Rivas, Isabel, Perez de Nanclares, Guiomar.

Birth Defects Research, 112, 1738-1749. 2020
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Ahmed, SF, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, FM, Ramirez, AG, Germain-Lee, EL, Groussin, L, Hamdy, NAT, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, MA, Makitie, O, Martin, R, Martos-Moreno, GA, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, AH, Shore, EM, Silve, C, Turan, S, Woods, P, Zillikens, MC, de Nanclares, GP, Linglart, A.

HORMONE RESEARCH IN PAEDIATRICS, 93, 182-196. 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montane, L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105, 2654-2666. 2020
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Aguilera-Albesa, S, de la Hoz, AB, Ibarluzea, N, Ordonez-Castillo, AR, Busto-Crespo, O, Villate, O, Ibiricu-Yanguas, MA, Yoldi-Petri, ME, de Gurtubay, IG, de Nanclares, GP, Pereda, A, Tejada, MI.

FRONTIERS IN NEUROLOGY, 11, 41-41. 2020
Glucose and galactose malabsorption: A new case in Spain.
Lodoso-Torrecilla B., Perez de Nanclares G., Garin I., Calvo-Saez A., Martinez-Fernandez de Pinedo I..

ANALES DE PEDIATRIA, 92, 104-105. 2020
FALSE ALARM!.
Caballero Alvarez, D., Arrizabalaga Amuchastegui, B., Urquia Plazaola, A., Perez de Nanclares, G., Otero Longo, I, Moreno Gamiz, M., Alonso Caballero, C., Vidal Lartitegui, L., Del Orbe Barreto, R. A..

Haematologica, 104, 179-179. 2019
DOI:
Impaired proteostasis in rare neurological diseases..
Osinalde N, Duarri A, Ramirez J, Barrio R, Perez de Nanclares G, Mayor U.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 93, 164-177. 2019
New case of a de novo mutation at ZYMND11 gene resembling the 10p15.3 microdeletion syndrome.
Garcia-Barcina, M., Fernandez-Cuesta, M. A., Barrena, B., Santamaria, E., Ruiz-Espinoza, C., Tejada, M. I., Ibarluzea, N., Perez de Nanclares, G., Sarasola, E..

EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 956-956. 2019
DOI:
First international consensus statement on diagnosis and management of pseudohypoparathyroidism and related disorders.
Mantovani, G, Bastepe, M, Monk, D, Sanctis, L, Thiele, S, Usardi, A, Ahmed, F, Bufo, R, Choplin, T, DeFilippo, G, Devernois, G, Eggermann, T, Elli, F, Freson, K, Garcia-Ramirez, A, Germain-Lee, E, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knigh, N, Kottle, M, Norcy, E, Lecumberri, B, Levine, M, Makitie, O, Martin, R, Martos-Moreno, G, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmar, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A, Shore, E, Silve, C, Turan, S, Woods, P, Zillikens, M, de Nanclares, GP, Linglart, A.

EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 623-624. 2019
DOI:
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.
Touati, A, Errea-Dorronsoro, J, Nouri, S, Halleb, Y, Pereda, A, Mahdhaoui, N, Ghith, A, Saad, A, de Nanclares, GP, ben Brahim, DH.

ACTA DIABETOLOGICA, 56, 301-307. 2019
Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction.
Monteagudo-Sanchez, A, Sanchez-Delgado, M, Mora, JRH, Santamaria, NT, Gratacos, E, Esteller, M, de Heredia, ML, Nunes, V, Choux, C, Fauque, P, de Nanclares, GP, Anton, L, Elovitz, MA, Iglesias-Platas, I, Monk, D.

Clinical Epigenetics, 11, 35-35. 2019
Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders.
Martos-Moreno, GA, Lecumberri, B, de Nanclares, GP.

ANALES DE PEDIATRIA, 90, 1251-12512. 2019
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado E.G., Galvez E., Planas-Cerezales L., Pintado-Berninches L., Vallespin E., Martinez P., Carrillo J., Iarriccio L., Ruiz-Llobet A., Catalá A., Badell-Serra I., Gonzalez-Granado L.I., Martín-Nalda A., Martínez-Gallo M., Galera-Miñarro A., Rodríguez-Vigil C., Bastos-Oreiro M., Perez De Nanclares G., Leiro-Fernández V., Uria M.-L., Diaz-Heredia C., Valenzuela C., Martín S., López-Muñiz B., Lapunzina P., Sevilla J., Molina-Molina M., Perona R., Sastre L..

ORPHANET JOURNAL OF RARE DISEASES, 14, 82-82. 2019
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Vidal S., Brandi N., Pacheco P., Maynou J., Fernandez G., Xiol C., Pascual-Alonso A., Pineda M., Maria del Mar O.C., Garcia-Cazorla À., del Carmen Serrano Munuera M., García S.C., Troncoso M., Fariña G., García Peñas J.J., Fournier B.G., León S.R., Guitart M., Baena N., de Nanclares G.P., Oci I.O., Gutiérrez-Delicado E., Abarrategui B., Barroso E., Santos-Simarro F., Lapunzina P., García F.J., Acedo J.M., García A., Martinez M.A., Martínez-Bermejo A., Armstrong J., Rett Working Group.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 23, 609-620. 2019

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Coordinador de Área:
Dra. Guiomar Perez de Nanclares Leal