Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nelmar Valentina Ortiz-Cabrera"'
Autor:
Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez, Francisco Javier Mejorado-Molano, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, María José Trujillo-Tiebas, Leandro Soriano-Guillén
Publikováno v:
Anales de Pediatría (English Edition), Vol 97, Iss 4, Pp 247-254 (2022)
Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patte
Externí odkaz:
https://doaj.org/article/96925f69f1644b7ab75f6d8a7b37a142
Autor:
José Miguel Villacampa-Aubá, Jessica Mire Santillán-Coello, María José Trujillo-Tiebas, Leandro Soriano-Guillén, Francisco Javier Mejorado-Molano, Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez
Publikováno v:
Anales de Pediatría. 97:247-254
Resumen Introduccion El hipogonadismo hipogonadotropo congenito (HHC) puede presentarse de manera aislada o acompanado de anosmia o de malformaciones congenitas. Mas de 30 genes han sido implicados en la patogenesis de HHC; ademas, se han descrito va
Autor:
María Jiménez Legido, Anna Duat Rodríguez, Nelmar Valentina Ortiz Cabrera, Juan José García Peñas, Verónica Cantarín Extremera, Bárbara Fernández Garoz, Beatriz Bernardino Cuesta
Publikováno v:
Molecular Syndromology. 12:25-32
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autoso
Autor:
Maria Guemes, Jesús Pozo-Román, Nelmar Valentina Ortiz-Cabrera, Luis A. Pérez-Jurado, Jesús Argente, Álvaro Martín-Rivada
Publikováno v:
Hormone Research in Paediatrics. 93:567-572
Introduction: Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the PLK4 gene , which encod
Autor:
Nelmar Valentina Ortiz-Cabrera, Angela Hernández-Martín, Loreto Carrasco, Alejandra Reolid, Antonio Torrelo, Lucero Noguera-Morel, Isdabel Colmenero
Publikováno v:
JAAD Case Reports
Autor:
Antonio Torrelo, Rudolf Happle, Lucero Noguera-Morel, Angela Hernández-Martín, Nelmar Valentina Ortiz Cabrera, Manuel Agud-Dios, Isabel Colmenero
Publikováno v:
Pediatric dermatologyREFERENCES. 38(6)
A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and p
Autor:
Patricia Pérez-Feal, Igor Vázquez-Osorio, Nelmar Valentina Ortiz-Cabrera, Laura Sainz-Gaspar, Angela Hernández-Martín, Noelia Moreiras-Arias
Publikováno v:
Pediatric Dermatology. 39:305-306
A 14-year-old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months' duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic va
Autor:
Berenice B. Mendonca, José I Labarta, Leandro Soriano-Guillén, Anna Flavia Figueiredo Benedetti, Lourdes Travieso-Suárez, Sonir Roberto Rauber Antonini, Ana Paula Abreu, Andrea de Castro Leal, Raquel Corripio, Priscila Gagliardi, Ana Claudia Latronico, Mirta Gryngarten, Maiara Ribeiro Piovesan, Luciana Ribeiro Montenegro, Andrea Arcari, Vinicius Nahime Brito, Jesús Argente, Ana Pinheiro Machado Canton, Nelmar Valentina Ortiz-Cabrera, Marina Cunha, Ursula B. Kaiser, Delanie B Macedo, Carolina Ramos, Arancha Escribano-Muñoz, Aline Guimaraes, Carlos Eduardo Seraphim
Publikováno v:
J Clin Endocrinol Metab
Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). Objective To describe the clinical and hormonal features of a large cohort of patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2ac84958412f0da28ca2f0025f8938
https://europepmc.org/articles/PMC7993586/
https://europepmc.org/articles/PMC7993586/
Autor:
Leandro Soriano-Guillén, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, Nelmar Valentina Ortiz-Cabrera, Francisco Javier Mejorado-Molano, María José Trujillo-Tiebas, Teresa Gavela-Pérez
Publikováno v:
Anales de pediatria. 97(4)
Introduction Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patter
ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction
Autor:
Anna Duat Rodríguez, María Jiménez Legido, Nelmar Valentina Ortiz Cabrera, Verónica Cantarín Extremera, Michaela Prochazkova, Serafin Rodriguez Palero, Isabel Perez Sebastian
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Alth