Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: prieto matos p. 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
[Growth hormone treatment in 2 patients with 22q11.21 deletion syndrome].
Bahíllo-Curieses MP, Prieto-Matos P, Hernández-Fabián A, Vázquez-Martín S. Bahíllo-Curieses MP, et al. Med Clin (Barc). 2016 Mar 4;146(5):e27-8. doi: 10.1016/j.medcli.2015.09.003. Epub 2015 Oct 29. Med Clin (Barc). 2016. PMID: 26520612 Spanish. No abstract available.
Normal range for acid-labile subunit in paediatric patients in Spain and its association with age, sex, pubertal stage and other growth factors.
González Ildefonso P, Nieto Librero AB, Martín Alonso M, Hernández Cerceño ML, García Serrano E, Prieto-Matos P. González Ildefonso P, et al. Among authors: prieto matos p. An Pediatr (Engl Ed). 2023 May;98(5):329-337. doi: 10.1016/j.anpede.2023.04.001. Epub 2023 Apr 25. An Pediatr (Engl Ed). 2023. PMID: 37105787 Free article.
[Turner syndrome: Study of 42 cases].
Bahíllo-Curieses MP, Prieto-Matos P, Quiroga González R, Regueras Santos L, Blanco Barrio A, Rupérez Peña S; Grupo de Endocrinología Pediátrica de Castilla y León. Bahíllo-Curieses MP, et al. Med Clin (Barc). 2016 Oct 21;147(8):348-351. doi: 10.1016/j.medcli.2016.06.033. Epub 2016 Aug 27. Med Clin (Barc). 2016. PMID: 27575526 Spanish.
Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.
D'Erasmo L, Minicocci I, Nicolucci A, Pintus P, Roeters Van Lennep JE, Masana L, Mata P, Sánchez-Hernández RM, Prieto-Matos P, Real JT, Ascaso JF, Lafuente EE, Pocovi M, Fuentes FJ, Muntoni S, Bertolini S, Sirtori C, Calabresi L, Pavanello C, Averna M, Cefalu AB, Noto D, Pacifico AA, Pes GM, Harada-Shiba M, Manzato E, Zambon S, Zambon A, Vogt A, Scardapane M, Sjouke B, Fellin R, Arca M. D'Erasmo L, et al. J Am Coll Cardiol. 2018 Jan 23;71(3):279-288. doi: 10.1016/j.jacc.2017.11.028. J Am Coll Cardiol. 2018. PMID: 29348020 Free article.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: prieto matos p. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
Analysis of FOXP3 gene in children with allergy and autoimmune diseases.
Pacheco-Gonzalez RM, Avila C, Dávila I, García-Sánchez A, Hernández-Hernández L, Benito-Pescador D, Torres R, Prieto-Matos P, Isidoro-Garcia M, Lorente F, Sanz C. Pacheco-Gonzalez RM, et al. Allergol Immunopathol (Madr). 2016 Jan-Feb;44(1):32-40. doi: 10.1016/j.aller.2015.01.012. Epub 2015 May 13. Allergol Immunopathol (Madr). 2016. PMID: 25982578
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE. Barraza-García J, et al. Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28067412 Free article.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Autosomal recessive hypercholesterolemia in Spain.
Sánchez-Hernández RM, Prieto-Matos P, Civeira F, Lafuente EE, Vargas MF, Real JT, Goicoechea FG, Fuentes FJ, Pocovi M, Boronat M, Wägner AM, Masana L. Sánchez-Hernández RM, et al. Atherosclerosis. 2018 Feb;269:1-5. doi: 10.1016/j.atherosclerosis.2017.12.006. Epub 2017 Dec 6. Atherosclerosis. 2018. PMID: 29245109
23 results