Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia

Authors: López‐Sundh, Ana Elísabet, Escribano‐Palomino, Esperanza, Feito‐Rodríguez, Marta, Tenorio, Jair, Brizzi, María Emilia, Krasnovska Zayets, Khrystyna, Servera‐Negra, Guillermo, Lucas‐Laguna, Raúl

Source: American journal of medical genetics.Part A. 191(1):253-258

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168970573.0x000001&indx=1&recIds=ETOCvdc_100168970573.0x000001

Epigenome-wide association study of COVID-19 severity with respiratory failure

Authors: Castro de Moura, Manuel, Davalos, Veronica, Planas-Serra, Laura, Alvarez-Errico, Damiana, Arribas, Carles, Ruiz, Montserrat, Aguilera-Albesa, Sergio, Troya, Jesús, Valencia-Ramos, Juan, Vélez-Santamaria, Valentina, Rodríguez-Palmero, Agustí, Villar-Garcia, Judit, Horcajada, Juan P., Albu, Sergiu, Casasnovas, Carlos, Rull, Anna, Reverte, Laia, Dietl, Beatriz, Dalmau, David, Arranz, Maria J., Llucià-Carol, Laia, Planas, Anna M., Pérez-Tur, Jordi, Fernandez-Cadenas, Israel, Villares, Paula, Tenorio, Jair, Colobran, Roger, Martin-Nalda, Andrea, Soler-Palacin, Pere, Vidal, Francesc, Pujol, Aurora, Esteller, Manel

Source: In eBioMedicine April 2021 66

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Authors: Montagnani, Francesca, Sarno, Laura Di, Tommasi, Andrea, Palmieri, Maria, Fabbiani, Massimiliano, Rossetti, Barbara, Zanelli, Giacomo, Sestini, Fausta, Bergantini, Laura, D'Alessandro, Miriana, Cameli, Paolo, Bennett, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Franchi, Federico, Mazzei, Maria Antonietta, Guerrini, Susanna, Conticini, Edoardo, Cantarini, Luca, Frediani, Bruno, Tacconi, Danilo, Feri, Marco, Donati, Alice, Guidelli, Luca, Spargi, Genni, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Caldarelli, Gian Piero, Spagnesi, Maurizio, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Canaccini, Anna, Verzuri, Agnese, Anemoli, Valentina, Ognibene, Agostino, Vaghi, Massimo, Monforte, Antonella D'Arminio, Merlini, Esther, Miraglia, Federica Gaia, Mondelli, Mario Umberto, Mantovani, Stefania, Girardis, Massimo, Venturelli, Sophie, Sita, Marco, Cossarizza, Andrea, Antinori, Andrea, Vergori, Alessandra, Emiliozzi, Arianna, Rusconi, Stefano, Siano, Matteo, Gabrieli, Arianna, Riva, Agostino, Francisci, Daniela, Schiaroli, Elisabetta, Paciosi, Francesco, Scotton, Pier Giorgio, Andretta, Francesca, Panese, Sandro, Baratti, Stefano, Scaggiante, Renzo, Gatti, Francesca, Parisi, Saverio Giuseppe, Castelli, Francesco, Quiros-Roldan, Eugenia, Antoni, Melania Degli, Zanella, Isabella, Monica, Matteo Della, Piscopo, Carmelo, Capasso, Mario, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Fiorentino, Giuseppe, Carella, Massimo, Castori, Marco, Merla, Giuseppe, Aucella, Filippo, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Biagio, Antonio Di, Sanguinetti, Maurizio, Masucci, Luca, Valente, Serafina, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bargagli, Elena, Mandalà, Marco, Giorli, Alessia, Salerni, Lorenzo, Zucchi, Patrizia, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Giannattasio, Ferdinando, Coiro, Gabriella, Lena, Fabio, Coviello, Domenico A., Mussini, Cristina, Bosio, Giancarlo, Martinelli, Enrico, Mancarella, Sandro, Tavecchia, Luisa, Crotti, Lia, Parati, Gianfranco, Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca

Source: In EBioMedicine March 2021 65

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum

Authors: Arroyo Carrera, Ignacio, Fernández‐Burriel, Miguel, Lapunzina, Pablo, Tenorio, Jair Antonio, García Navas, Verónica Deyanira, Márquez Isidro, Elena

Source: Clinical genetics. 99(6):812-817

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121027597.0x000001&indx=1&recIds=ETOCvdc_100121027597.0x000001

A six-attribute classification of geneticmosaicism

Authors: Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Ruiz Pérez, Víctor L., Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo

Source: In Genetics in Medicine November 2020 22(11):1743-1757

GENOMIC LANDSCAPE IN ENDOMETRIOSIS ASSOCIATED OVARIAN CANCER

Authors: Villagrá, Itziar ¹, Spagnolo, Emanuela ¹, Tomás-Pérez, Sarai ², Tenorio, Jair ³, Marí-Alexandre, Josep ², Pena-Burgos, Eva Manuela ⁴, Hidalgo, Paula ⁵, Díaz, Blanca ¹, Hernández, Alicia ¹

Source: In International Journal of Gynecological Cancer February 2025 35(2) Supplement 1

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

Authors: Dapía, Irene, García, Irene, Martinez, Jose Carlos, Arias, Pedro, Guerra, Pedro, Díaz, Lucía, García, Alberto, Ochoa, Dolores, Tenorio, Jair, Ramírez, Elena, Román, Manuel, Gordo, Gema, Saiz-Rodríguez, Miriam, Frías, Jesús, Abad-Santos, Francisco, Lapunzina, Pablo, Carcas, Antonio J., Borobia, Alberto M.

Source: In International Journal of Antimicrobial Agents October 2019 54(4):463-470

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Authors: Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

Source: American journal of human genetics. 107(5):977-988

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111074813.0x000001&indx=1&recIds=ETOCvdc_100111074813.0x000001

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Authors: Tenorio, Jair, Nevado, Julián, González‐Meneses, Antonio, Arias, Pedro, Dapía, Irene, Venegas‐Vega, Carlos A., Calvente, María, Hernández, Alicia, Landera, Leandro, Ramos, Sergio, Cigudosa, Juan Cruz, Pérez‐Jurado, Luis A., Lapunzina, Pablo

Source: Clinical genetics. 97(3):467-476

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102898137.0x000001&indx=1&recIds=ETOCvdc_100102898137.0x000001

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Authors: Palencia‐Campos, Adrián, Martínez‐Fernández, María‐Luisa, Altunoglu, Umut, Soto‐Bielicka, Patricia, Torres, Antonio, Marín, Purificación, Aller, Elena, Şentürk, Leyli, Berköz, Ömer, Yıldıran, Mehmet, Kayserili, Hülya, Gil‐Camarero, Elena, Colli‐Lista, Gloria, Sanchís‐Calvo, Amparo, Carretero, Alba, Guillén‐Navarro, Encarna, López‐González, Vanesa, Ballesta‐Martínez, María, Rosell, Jordi, Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Cuevas‐Catalina, Lourdes, Torres‐Saavedra, María‐Nieves, Nevado, Julian, Tenorio, Jair, Lapunzina, Pablo, Bermejo‐Sánchez, Eva, Ruiz‐Pérez, Víctor L.

Source: Human mutation. 41(1):265-276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096238210.0x000001&indx=1&recIds=ETOCvdc_100096238210.0x000001

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Authors: Sarmiento Doncel, Samuel, Peláez, Ronald Guillermo, Lapunzina, Pablo, Corrales-Medina, Fernando F., Díaz Mosquera, Gina Alejandra, Bonanad, Santiago, Cortes, Javier Mauricio, Cazalla, Mario, Gallego, Natalia, Querol-Giner, Felipe, Tenorio, Jair, López Guerrero, José A.

Source: Life (2075-1729); Aug2024, Vol. 14 Issue 8, p1041, 14p

Subject Terms: GENETIC testing, BLOOD coagulation factor VIII antibodies, GENETIC variation, HEMOPHILIA, BIVARIATE analysis, X chromosome

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.

Authors: Villafuerte, Beatriz, Carrasco-López, Carlos, Herranz, Amanda, Garzón, Lucía, Simón, Rogelio, Natera-de-Benito, Daniel, Alikhani, Pouya, Tenorio, Jair, García-Santiago, Fe, Solis, Mario, del-Pozo, Ángela, Lapunzina, Pablo, Ortigoza-Escobar, Juan Darío, Santisteban, Pilar, Moreno, José C.

Source: Thyroid; Jul2024, Vol. 34 Issue 7, p942-948, 7p

Subject Terms: MISSENSE mutation, MOSAICISM, PHENOTYPIC plasticity, NUCLEOTIDE sequencing, THYROID diseases

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Authors: Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, Amin, Asmaa K., Elnahas, Rania F., Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, Özsu, Elif

Source: Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p633-644, 25p

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

Alternate Title: Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvular (Spanish; Castilian)

Authors: Fernández, Luis, Tenorio, Jair, Polo-Vaquero, Coral, Vallespín, Elena, Palomares-Bralo, María, García-Miñaúr, Sixto, Santos-Simarro, Fernando, Arias, Pedro, Carnicer, Hernán, Giannivelli, Silvina, Medina, Juan, Pérez-Piaya, Rosa, Solís, Jorge, Rodríguez, Mónica, Villagrá, Alexandra, Rodríguez, Laura, Nevado, Julián, Martínez-Glez, Víctor, Heath, Karen E., Lapunzina, Pablo

Source: In Revista Española de Cardiología (English Edition) July 2018 71(7):545-552

Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvular

Alternate Title: In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype (English)

Authors: Fernández, Luis, Tenorio, Jair, Polo-Vaquero, Coral, Vallespín, Elena, Palomares-Bralo, María, García-Miñaúr, Sixto, Santos-Simarro, Fernando, Arias, Pedro, Carnicer, Hernán, Giannivelli, Silvina, Medina, Juan, Pérez-Piaya, Rosa, Solís, Jorge, Rodríguez, Mónica, Villagrá, Alexandra, Rodríguez, Laura, Nevado, Julián, Martínez-Glez, Víctor, Heath, Karen E., Lapunzina, Pablo

Source: In Revista Española de Cardiología July 2018 71(7):545-552

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Authors: Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Ramos, Feliciano J., Campistol, Jaume, Climent, Salvador, García‐Miñaur, Sixto, Dapía, Irene, Hernández, Alicia, Nevado, Julián, Solís, Mario, Ruiz‐Pérez, Víctor L., Lapunzina, Pablo

Source: Clinical genetics. 95(6):726-731

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088887399.0x000001&indx=1&recIds=ETOCvdc_100088887399.0x000001

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

Authors: Hernandez Mora, Jose R, Tayama, Chiharu, Sánchez-Delgado, Marta, Monteagudo-Sánchez, Ana, Hata, Kenichiro, Ogata, Tsutomu, Medrano, Jose, Poo-Llanillo, Maria E, Simón, Carlos, Moran, Sebastian, Esteller, Manel, Tenorio, Jair, Lapunzina, Pablo, Kagami, Masayo, Monk, David, Nakabayashi, Kazuhiko

Source: Epigenomics. 10(7):941-954

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184455844.0x000001&indx=1&recIds=ETOCvdc_100184455844.0x000001

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension

Alternate Title: Análisis de los genes BMPR2, TBX4 y KCNK3 y correlación genotipo-fenotipo en pacientes y familias españolas con hipertensión arterial pulmonar (Spanish; Castilian)

Authors: Navas, Paula, Tenorio, Jair, Quezada, Carlos Andrés, Barrios, Elvira, Gordo, Gema, Arias, Pedro, López Meseguer, Manuel, Santos-Lozano, Alejandro, Palomino Doza, Julian, Lapunzina, Pablo, Escribano Subías, Pilar

Source: In Revista Española de Cardiología (English Edition) November 2016 69(11):1011-1019

Análisis de los genes BMPR2, TBX4 y KCNK3 y correlación genotipo-fenotipo en pacientes y familias españolas con hipertensión arterial pulmonar

Alternate Title: Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension (English)

Authors: Navas, Paula, Tenorio, Jair, Quezada, Carlos Andrés, Barrios, Elvira, Gordo, Gema, Arias, Pedro, López Meseguer, Manuel, Santos-Lozano, Alejandro, Palomino Doza, Julian, Lapunzina, Pablo, Escribano Subías, Pilar

Source: In Revista Española de Cardiología November 2016 69(11):1011-1019

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

Authors: García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo

Source: Molecular genetics & genomic medicine. 9(5)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122943606.0x000001&indx=1&recIds=ETOCvdc_100122943606.0x000001