Results 71 to 80 of about 62,538,371 (129)

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. [PDF]

Orphanet J Rare Dis, 2020
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S.   +15 more
europepmc   +1 more source

[Epilepsy in Angelman syndrome and the most common electroencephalographic findings]. [PDF]

Rev Neurol
Ebrat-Mancilla E, Sánchez-Aparicio A, Pérez de Vargas-Martínez A, Marín-Serrano ME, Vaquero-Martínez M, Iglesias-Escalera G, Cazorla MR, López-Pájaro LF.   +7 more
europepmc   +1 more source

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. [PDF]

Mol Genet Genomic Med, 2019
Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A.   +11 more
europepmc   +1 more source

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. [PDF]

BMC Med Genet, 2017
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M.   +11 more
europepmc   +1 more source

A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study). [PDF]

Orphanet J Rare Dis, 2018
Ruiz-Antoran B, Sancho-López A, Cazorla-Calleja R, López-Pájaro LF, Leiva Á, Iglesias-Escalera G, Marín-Serrano ME, Rincón-Ortega M, Lara-Herguedas J, Rossignoli-Palomeque T, Valiente-Rodríguez S, González-Marques J, Román-Riechmann E, Avendaño-Solá C.   +13 more
europepmc   +1 more source

[Communication as a right: Current state of augmentative communication in healthcare]. [PDF]

Aten Primaria
Rossich-Verdés R, Muyo-Hernandez P, Cabanillas-Montferrer T, Rodríguez-Román B.   +3 more
europepmc   +1 more source

Outcome strategies for clinical trials in Neuropaediatric rare diseases. [PDF]

Neurosci Appl
Acosta MT, Aibar JÁ, Arango C, Cirauqui EA, Baeza C, Berry-Kravis E, Bishop KI, Busner J, Chapman C, Chaumette B, Del Cerro I, Diaz JC, Dorffner G, Edgar CJ, Giorgi S, Hölter SM, Kittel-Schneider S, Latzman RD, Moreno C, Pallanti S, Colzi C, Plasencia C, Radtke F, Rockwood K, Santuccione Chadha A, Sevinc G, Singh MK, Smith SH, Tandon PK, Tinoco D, Broggi E, Morgan SF, Magaraggia I, Zaragoza Domingo S.   +33 more
europepmc   +1 more source

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables. [PDF]

Diagnostics (Basel)
Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García A, García-García O, O'Callaghan M, Pascual-Alonso A, Armstrong J, Mds Group, Martinez-Monseny AF.   +11 more
europepmc   +1 more source