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Page 1
Moebius-Poland syndrome and hypogonadotropic hypogonadism.
López de Lara D, Cruz-Rojo J, Sánchez del Pozo J, Gallego Gómez ME, Lledó Valera G. López de Lara D, et al. Among authors: sanchez del pozo j. Eur J Pediatr. 2008 Mar;167(3):353-4. doi: 10.1007/s00431-007-0473-4. Epub 2007 Mar 31. Eur J Pediatr. 2008. PMID: 17401577 Free PMC article. No abstract available.
Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.
Moreno-García M, Sánchez Del Pozo J, Cruz-Rojo J, Fernández-Martínez FJ, Perez-Nanclares Leal G. Moreno-García M, et al. Among authors: sanchez del pozo j. Clin Dysmorphol. 2012 Jul;21(3):172-176. doi: 10.1097/MCD.0b013e3283539fe5. Clin Dysmorphol. 2012. PMID: 22525095 Review. No abstract available.
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. Among authors: sanchez del pozo j. 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.
[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].
Natera-De Benito D, Vidal-Esteban A, Sanchez-Del Pozo J, Moreno-Garcia M, Suela-Rubio J, Cruz-Rojo J, Rivero-Martin MJ. Natera-De Benito D, et al. Among authors: sanchez del pozo j. Rev Neurol. 2015 Dec 16;61(12):550-6. Rev Neurol. 2015. PMID: 26662873 Free article. Spanish.
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G. Pereda A, et al. Among authors: sanchez del pozo j. Am J Med Genet A. 2017 Mar;173(3):816-819. doi: 10.1002/ajmg.a.38067. Am J Med Genet A. 2017. PMID: 28211986 No abstract available.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J. Quesada-Espinosa JF, et al. Among authors: sanchez del pozo j. Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23. Neurogenetics. 2021. PMID: 34296368
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: sanchez del pozo j. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
[Hypoglycaemia: An unusual initial presentation of a liver tumour].
Rubio-San-Simón A, Román Mendoza N, Nova Lozano C, Sánchez Del Pozo J, Guerra García P. Rubio-San-Simón A, et al. Among authors: sanchez del pozo j. An Pediatr (Engl Ed). 2019 Jul;91(1):64-65. doi: 10.1016/j.anpedi.2018.06.003. Epub 2018 Jul 7. An Pediatr (Engl Ed). 2019. PMID: 31280818 Free article. Spanish. No abstract available.
40 results