Guiomar Perez de Nanclares (Guiomar Pérez de Nanclares Leal)

Loop profile Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 27

Top Venues

Genes

Journal of pediatric endocrinology & metabolism : JPEM

Nature communications

Nature reviews. Disease primers

Hospital Universitario Araba sede Txagorritxu

University of Valencia (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Universitario Araba sede Txagorritxu

Spain

Main Researcher :: Research Unit

Hospital Universitario Cruces Sep 30 2004

Spain

Postdoctoral Fellow :: Endocrinology and Diabetes Research Group

University of the Basque Country

Spain

Assistant Proffesor :: Biochemistry and Molecular Biology

Spanish National Research Council

Spain

Researcher :: Endocrinology and Diabetes Research Group, Hospital Universitario de Cruces

Education History

University of Valencia

Spain

MSC

University of the Basque Country

Spain

PHD :: Faculty of Science

University of the Basque Country

Spain

BSC :: Faculty of Science

University of the Basque Country

Spain

BSC :: Faculty of Science

Publications

Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Perez de Nanclares, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report. Journal of pediatric endocrinology & metabolism : JPEM 37 (3) (2024)
Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Perez de Nanclares, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report. Journal of pediatric endocrinology & metabolism : JPEM 37 (3) (2024)
Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Perez de Nanclares, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report. Journal of pediatric endocrinology & metabolism : JPEM 37 (3) (2024)
Hasier Eraña, Cristina Sampedro-Torres-Quevedo, Jorge M Charco, Carlos M Díaz-Domínguez, Francesca Peccati, Maitena San-Juan-Ansoleaga, Enric Vidal, Nuno Gonçalves-Anjo, Miguel A Pérez-Castro, Ezequiel González-Miranda, Patricia Piñeiro, Leire Fernández-Veiga, Josu Galarza-Ahumada, Eva Fernández-Muñoz, Guiomar Perez de Nanclares, Glenn Telling, María V Geijo, Gonzalo Jiménez-Osés, Joaquín Castilla
A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions. Nature communications 15 (1) (2024)
Yerai Vado, Africa Manero-Azua, Arrate Pereda, Guiomar Perez de Nanclares
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS). Genes 15 (1) (2024)
Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Perez de Nanclares, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report. Journal of pediatric endocrinology & metabolism : JPEM (2024)
Yerai Vado, Africa Manero-Azua, Arrate Pereda, Guiomar Perez de Nanclares
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS). Genes 15 (1) (2024)
Hasier Eraña, Cristina Sampedro-Torres-Quevedo, Jorge M Charco, Carlos M Díaz-Domínguez, Francesca Peccati, Maitena San-Juan-Ansoleaga, Enric Vidal, Nuno Gonçalves-Anjo, Miguel A Pérez-Castro, Ezequiel González-Miranda, Patricia Piñeiro, Leire Fernández-Veiga, Josu Galarza-Ahumada, Eva Fernández-Muñoz, Guiomar Perez de Nanclares, Glenn Telling, María V Geijo, Gonzalo Jiménez-Osés, Joaquín Castilla
A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions. Nature communications 15 (1) (2024)
Yerai Vado, Africa Manero-Azua, Arrate Pereda, Guiomar Perez de Nanclares
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS). Genes 15 (1) (2024)
Yerai Vado, Africa Manero-Azua, Arrate Pereda, Guiomar Perez de Nanclares
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS). Genes 15 (1) (2024)
Hasier Eraña, Cristina Sampedro-Torres-Quevedo, Jorge M Charco, Carlos M Díaz-Domínguez, Francesca Peccati, Maitena San-Juan-Ansoleaga, Enric Vidal, Nuno Gonçalves-Anjo, Miguel A Pérez-Castro, Ezequiel González-Miranda, Patricia Piñeiro, Leire Fernández-Veiga, Josu Galarza-Ahumada, Eva Fernández-Muñoz, Guiomar Perez de Nanclares, Glenn Telling, María V Geijo, Gonzalo Jiménez-Osés, Joaquín Castilla
A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions. Nature communications 15 (1) (2024)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Izaro Kortazar-Zubizarreta, Africa Manero-Azua, Juan Afonso-Agüera, Guiomar Perez de Nanclares
C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia. Journal of personalized medicine 13 (9) (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Hasier Eraña, Beatriz San Millán, Carlos M Díaz-Domínguez, Jorge M Charco, Rosa Rodríguez, Irene Viéitez, Arrate Pereda, Rosa Yañez, María V Geijo, Carmen Navarro, Guiomar Perez de Nanclares, Susana Teijeira, Joaquín Castilla
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization. Journal of neurology 269 (8) (2022)
Izaro Kortazar-Zubizarreta, Hasier Eraña, Arrate Pereda, Jorge M Charco, Africa Manero-Azua, Rebeca Ruiz-Onandi, Urko Aguirre Larracoechea, Gonzalo Gonzalez-Chinchon, null null, Guiomar Perez de Nanclares, Joaquín Castilla
Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value. Journal of neuropathology and experimental neurology (2022)
Steffen Halbgebauer, Samir Abu-Rumeileh, Patrick Oeckl, Petra Steinacker, Francesco Roselli, Diana Wiesner, Angela Mammana, Michael Beekes, Izaro Kortazar-Zubizarreta, Guiomar Perez de Nanclares, Sabina Capellari, Armin Giese, Joaquin Castilla, Albert C Ludolph, Dana Žáková, Piero Parchi, Markus Otto
Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease. Neurology 98 (14) (2022)
Arrate Pereda, Francesca M Elli, Suzanne Thiele, Luisa de Sanctis, Anya Rothenbuhler, Patrick Hanna, Bruno Francou, Diana Alexandra Ertl, Guiomar Perez de Nanclares, Agnès Linglart, Giovanna Mantovani
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. European journal of endocrinology 184 (2) (2021)
Izaro Kortazar-Zubizarreta, Rebeca Ruiz-Onandi, Arrate Pereda, Yerai Vado, Gonzalo Gonzalez-Chinchon, Hasier Eraña, Guiomar Perez de Nanclares, Joaquín Castilla
Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period. European journal of neurology 28 (9) (2021)
Yerai Vado, Gustavo Puras, Melania Rosique, Martín César, José Luis Pedraz, Shifa Jebari-Benslaiman, Marian M de Pancorbo, Jon Zarate, Guiomar Perez de Nanclares
Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells. Pharmaceutics 13 (5) (2021)
Adriano Martinez-Aracil, Rebeca Ruiz-Onandi, Alvaro Perez-Rodriguez, Amaia Sagasta, Isabel Llano-Rivas, Guiomar Perez de Nanclares
Prenatal and foetal autopsy findings in glutaric aciduria type II. Birth defects research 112 (19) (2020)
Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez López, Guiomar Perez de Nanclares
Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. Genes 11 (12) (2020)
Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, Syed Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip George Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H Shoemaker, Eileen M Shore, Caroline Silve, Serap Turan, Philip Woods, M Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nature reviews. Endocrinology 14 (8) (2019)
Arrate Pereda, Jose Maria Martos-Tello, Intza Garin, Javier Errea-Dorronsoro, Guiomar Perez de Nanclares
Progressive osseous heteroplasia caused by a mosaic GNAS mutation. Clinical endocrinology 88 (6) (2018)
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. BMC medical genomics 11 (1) (2018)

Guiomar Perez de Nanclares.css-eqlu8i{font-size:small;padding-left:4px;} (Guiomar Pérez de Nanclares Leal)

Publication Activity (10 Years)

Top Topics

Top Venues

Guiomar Perez de Nanclares (Guiomar Pérez de Nanclares Leal)