Pólipo adenomatoso colónico con presencia florida de cuerpos de Russell monoclonales lambda: comunicación de un caso e hipótesis etiopatogénica.Martínez-Aracil, A., Polanco-Alonso, D., Stayerman, C., Miguel, C., Pérez de Nanclares, G..
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia, , .
2023 First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders..Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T.
Clinical Epigenetics, 14, 143-143.
2022 Albright's hereditary osteodystrophy: an entity to recognize..Maduro AI, Pinto Saraiva A, Pimenta Rodrigues O, Marques M, B Sousa S, Malcata A, Perez de Nanclares G, Serra S.
Rheumatology (Oxford, England), 61, 356-357.
2022 Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants..Kayumi, Sayaka, Perez-Jurado, Luis A, Palomares, Maria, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, Garcia-Minaur, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Miguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernandez-Cuesta, Maria Angeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-Francois, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A.
GENETICS IN MEDICINE, 24, 2351-2366.
2022 [Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?].Perez-Rodriguez, Alvaro, Sarasola, Esther, Perez de Nanclares, Guiomar, Sagasta, Amaia.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia, 55 Suppl 1, 16-20.
2022 Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization..Eraña H, San Millán B, Díaz-Domínguez CM, Charco JM, Rodríguez R, Viéitez I, Pereda A, Yañez R, Geijo M, Navarro C, Perez de Nanclares G, Teijeira S, Castilla J.
JOURNAL OF NEUROLOGY, 269, 4253-4263.
2022 Congenital cutaneous ossification..Gomes TF, Kieselová K, Santiago F, Cardoso JC, Cunha F, Sousa SB, Perez de Nanclares G.
Journal of paediatrics and child health, 58, 1262-1264.
2022 Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances..Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F.
Clinical Epigenetics, 14, 71-71.
2022 Blood ß-Synuclein and Neurofilament Light Chain During the Course of Prion Disease..Halbgebauer S, Abu-Rumeileh S, Oeckl P, Steinacker P, Roselli F, Wiesner D, Mammana A, Beekes M, Kortazar-Zubizarreta I, Perez de Nanclares G, Capellari S, Giese A, Castilla J, Ludolph AC, Žáková D, Parchi P, Otto M.
Neurology, 98, 1434-1445.
2022 Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences..Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z.
Clinical Epigenetics, 14, 41-41.
2022 Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome..Sabria-Back J, Monteagudo-Sánchez A, Sánchez-Delgado M, Ferguson-Smith AC, Gómez O, Pertierra Cartada A, Tenorio J, Nevado J, Lapunzina P, Pereda Aguirre A, Giménez Sevilla C, Toro Toro E, Perez de Nanclares G, Monk D.
JOURNAL OF MEDICAL GENETICS, 59, 253-261.
2022 Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period..Kortazar-Zubizarreta I, Ruiz-Onandi R, Pereda A, Vado Y, González-Chinchon G, Eraña H, Perez de Nanclares G, Castilla J.
EUROPEAN JOURNAL OF NEUROLOGY, 28, 2901-2906.
2021 Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells..Vado Y, Puras G, Rosique M, Martin C, Pedraz JL, Jebari-Benslaiman S, de Pancorbo MM, Zarate J, Perez de Nanclares G.
Pharmaceutics, 13, .
2021 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, .
2020 Novel variant in PLAG1 in a familiar case of Silver-Russell syndrome.Pereda, A., Vado, Y., Llano-Rivas, I., Gorria-Redondo, N., Diez, I., Pérez de Nanclares, G..
EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 253-254.
2020 The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances..Monteagudo-Sánchez A, Hernandez Mora JR, Simon C, Burton A, Tenorio J, Lapunzina P, Clark S, Esteller M, Kelsey G, López-Siguero JP, de Nanclares GP, Torres-Padilla ME, Monk D.
NUCLEIC ACIDS RESEARCH, 48, 11394-11407.
2020 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 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 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 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 Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis..Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, , .