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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study; Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Turnpenny PD, et al. Among authors: paumard hernandez b. Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343942 Free PMC article.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study; Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Turnpenny PD, et al. Among authors: paumard hernandez b. Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. Am J Hum Genet. 2018. PMID: 30526864 Free PMC article. No abstract available.
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE. Benito-Sanz S, et al. Among authors: paumard hernandez b. J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678. J Med Genet. 2012. PMID: 22791839
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE. Paumard-Hernández B, et al. Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1. Eur J Hum Genet. 2015. PMID: 25271085 Free PMC article.
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
Rivera-Pedroza CI, Barraza-García J, Paumard-Hernández B, Nevado J, Orbea-Gallardo C, Sánchez Del Pozo J, Heath KE. Rivera-Pedroza CI, et al. Among authors: paumard hernandez b. Mol Syndromol. 2017 Jan;8(1):30-35. doi: 10.1159/000452609. Epub 2016 Nov 17. Mol Syndromol. 2017. PMID: 28232780 Free PMC article.
Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.
Calvete O, Reyes J, Zuñiga S, Paumard-Hernández B, Fernández V, Bujanda L, Rodriguez-Pinilla MS, Palacios J, Heine-Suñer D, Banka S, Newman WG, Cañamero M, Pritchard DM, Benítez J. Calvete O, et al. Among authors: paumard hernandez b. Hum Mol Genet. 2015 May 15;24(10):2914-22. doi: 10.1093/hmg/ddv054. Epub 2015 Feb 11. Hum Mol Genet. 2015. PMID: 25678551
Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Carlos Triviño J, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Francisco Rodríguez Moreno J, Fernández Aramburo A, López C, Maroto P, Sastre J, José Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, María Autran A, Benítez J. Paumard-Hernández B, et al. Int J Cancer. 2018 Oct 15;143(8):1954-1962. doi: 10.1002/ijc.31604. Epub 2018 Aug 9. Int J Cancer. 2018. PMID: 29761480 Free article.
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
Calvete O, Martinez P, Garcia-Pavia P, Benitez-Buelga C, Paumard-Hernández B, Fernandez V, Dominguez F, Salas C, Romero-Laorden N, Garcia-Donas J, Carrillo J, Perona R, Triviño JC, Andrés R, Cano JM, Rivera B, Alonso-Pulpon L, Setien F, Esteller M, Rodriguez-Perales S, Bougeard G, Frebourg T, Urioste M, Blasco MA, Benítez J. Calvete O, et al. Among authors: paumard hernandez b. Nat Commun. 2015 Sep 25;6:8383. doi: 10.1038/ncomms9383. Nat Commun. 2015. PMID: 26403419 Free PMC article.
Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary.
Barquín García A, Palacios-Zambrano S, Lozano Alarcón F, Paumard-Hernández B, Quiralte Pulido M, Navarro P, Rodríguez L, Salas Villar I, García-Donas J. Barquín García A, et al. Among authors: paumard hernandez b. J Natl Compr Canc Netw. 2023 Dec 27;22(1D):e237079. doi: 10.6004/jnccn.2023.7079. J Natl Compr Canc Netw. 2023. PMID: 38150820