Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using to...

by Peces, Ramón, Mena, Rocío, Peces, Carlos, Cuesta, Emilio, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián
Published in Clin Kidney J (2021)

Simpson-Golabi-Behmel syndrome types I and II

by Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Published in Orphanet J Rare Dis (2014)

A view on clinical genetics and genomics in Spain: of challenges and opportunities

by Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo‐Salellas, Ignasi, Pérez‐Jurado, Luis A., Pujol, Aurora
Published in Mol Genet Genomic Med (2016)

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

by Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez-Laguna, Lara, García-Miguel, Purificación, Martínez, Augusto Rojas, Martínez-Glez, Víctor
Published 2014

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

by Candelo, Estephania, Caicedo, Gabriela, Rosso, Fernando, Ballesteros, Adriana, Orrego, Jaime, Escobar, Luis, Lapunzina, Pablo, Nevado, Julían, Pachajoa, Harry
Published in Appl Clin Genet (2019)

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

by Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián
Published in Mol Genet Genomic Med (2019)

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

by Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Published in Mol Genet Genomic Med (2020)

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain

by Peces, Ramón, Mena, Rocío, Peces, Carlos, Barruz, Pilar, Trujillo, Hernando, Carreño, Agustín, Espinosa, Laura, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Published in Clin Kidney J (2021)

Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory

by García-Giménez, José Luis, Seco-Cervera, Marta, Tollefsbol, Trygve O., Romá-Mateo, Carlos, Peiró-Chova, Lorena, Lapunzina, Pablo, Pallardó, Federico V.
Published in Crit Rev Clin Lab Sci (2017)

Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

by Lassaletta, Luis, Calvino, Miryam, Morales-Puebla, Jose Manuel, Lapunzina, Pablo, Rodriguez-de la Rosa, Lourdes, Varela-Nieto, Isabel, Martinez-Glez, Victor
Published in Front Neurol (2019)

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

by Berdasco, María, Ropero, Santiago, Setien, Fernando, Fraga, Mario F., Lapunzina, Pablo, Losson, Régine, Alaminos, Miguel, Cheung, Nai-Kong, Rahman, Nazneen, Esteller, Manel
Published 2009

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

by Sánchez-Montenegro, Carlos, Vilanova-Sánchez, Alejandra, Barrena-Delfa, Saturnino, Tenorio, Jair, Santos-Simarro, Fernando, García-Miñaur, Sixto, Lapunzina, Pablo, Martínez-Martínez, Leopoldo
Published in Case Rep Genet (2017)

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

by Gómez-González, Clara, Esteban-Rodríguez, Maria Isabel, Ruano, Yolanda, Vallespín, Elena, Lapunzina, Pablo, Martínez, Paloma, Pascual, Samuel I., Molano, Jesús, Prior, Carmen
Published in Ann Indian Acad Neurol (2017)

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

by Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
Published in Front Genet (2021)

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

by Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A. G.
Published in Eur J Hum Genet (2018)

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

by Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna
Published 2014

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

by Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
Published in Sci Rep (2020)

A new variant in PHKA2 is associated with glycogen storage disease type IXa

by Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Published in Mol Genet Metab Rep (2017)

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

by Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia-Benitez, María, Lapunzina, Pablo, Ruiz-Peréz, Víctor
Published in Am J Case Rep (2017)

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

by Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
Published 2010