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Author/Creator Tenorio, Jair

1. A New Overgrowth Syndrome is due to Mutations in RNF125. Issue 12 (December 2014)

Authors:
Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez‐Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén‐Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García‐Santiago, Fé; González‐Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A.;...
Journal:
Human mutation
Issue:
Volume 35:Issue 12(2014:Dec.)
Page Start:
1436
Record Type:
Journal Article
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2. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases12. Issue 1 (29th November 2012)

Authors:
Kantaputra, Piranit Nik; Sittiwangkul, Rekwan; Sonsuwan, Nuntigar; Romanelli, Valeria; Tenorio, Jair; Lapunzina, Pablo
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
192
Record Type:
Journal Article
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3. Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. (2nd July 2018)

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
Journal:
Epigenomics
Issue:
Volume 10:Number 7(2018)
Page Start:
941
Record Type:
Journal Article
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4. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. Issue 10 (2nd August 2016)

Authors:
Tenorio, Jair; Romanelli, Valeria; Martin‐Trujillo, Alex; Fernández, García‐Moya; Segovia, Mabel; Perandones, Claudia; Pérez Jurado, Luis A.; Esteller, Manel; Fraga, Mario; Arias, Pedro; Gordo, Gema; Dapía, Irene; Mena, Rocío; Palomares, María; Pérez de Nanclares, Guiomar; Nevado, Julián; García‐...
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2740
Record Type:
Journal Article
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5. Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. Issue 2 (28th November 2017)

Authors:
Borobia, Alberto M.; Dapia, Irene; Tong, Hoi Y.; Arias, Pedro; Muñoz, Mario; Tenorio, Jair; Hernández, Rafael; García García, Irene; Gordo, Gema; Ramírez, Elena; Frías, Jesús; Lapunzina, Pablo; Carcas, Antonio J.
Journal:
Clinical and translational science
Issue:
Volume 11:Issue 2(2018)
Page Start:
189
Record Type:
Journal Article
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6. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. (19th January 2017)

Authors:
Sánchez-Montenegro, Carlos; Vilanova-Sánchez, Alejandra; Barrena-Delfa, Saturnino; Tenorio, Jair; Santos-Simarro, Fernando; García-Miñaur, Sixto; Lapunzina, Pablo; Martínez-Martínez, Leopoldo
Other Names:
Cotter Philip D. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2017(2017)
Page Start:
Record Type:
Journal Article
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7. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Issue 3 (23rd January 2020)

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
Journal:
Clinical genetics
Issue:
Volume 97:Issue 3(2020)
Page Start:
467
Record Type:
Journal Article
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8. Further delineation of Malan syndrome. Issue 9 (25th June 2018)

Authors:
Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1226
Record Type:
Journal Article
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9. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Issue 1 (6th November 2019)

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, Alb...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
265
Record Type:
Journal Article
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10. Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia. Issue 1 (26th October 2022)

Authors:
López‐Sundh, Ana Elísabet; Escribano‐Palomino, Esperanza; Feito‐Rodríguez, Marta; Tenorio, Jair; Brizzi, María Emilia; Krasnovska Zayets, Khrystyna; Servera‐Negra, Guillermo; de Lucas‐Laguna, Raúl
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
253
Record Type:
Journal Article
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