Results 71 to 80 of about 221 (127)

[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

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

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

From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. [PDF]

PLoS One, 2016
Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D.   +12 more
europepmc   +1 more source

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association. [PDF]

Ital J Pediatr
Russo S, Milani D, Meossi C, Marcucci L, Pajno R, Butti N, Cocchi G, Tannorella P, Bertoletti M, Carli D, Meazzini MC, Tortora C, Ferrari M, Zampino G, Massuras S, Ferrero GB, Quarello P, Rossetti G, Montirosso R, De Pellegrin M, Riccio A, Mussa A.   +21 more
europepmc   +1 more source

Analisis mediante MLPA de síndromes de microdeleciones-microduplicaciones en pacientes con retraso mental.

, 2015
Hemos realizado el estudio mediante MLPA (Multiple Ligation Probe Amplification) de los principales síndromes de microdeleción / microduplicación en 1001 pacientes con retraso mental y/o algún tipo de malformación.
Sánchez García, Francisco Javier
core  

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. [PDF]

Front Genet
Brito F, Lagos C, Cubillos J, Orellana J, Gajardo M, Böhme D, Encina G, Repetto GM.   +7 more
europepmc   +1 more source

[Anesthetic management of a patient with 15q tetrasomy for dental treatment]. [PDF]

Braz J Anesthesiol, 2018
Hase Y, Kemekura N, Nitta Y, Fujisawa T.
europepmc   +1 more source

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. [PDF]

J Clin Invest, 2015
Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.   +7 more
europepmc   +1 more source

Importancia de la valoración genética y la asesoría preconcepcional, a propósito de un caso de síndrome de Prader-Willi/Angelman

Objective: To report a case of prenatal diagnosis of Prader-Willi/Angelmansyndrome using microarray. A review of the literature is made and the importanceof preconceptional genetic counselling is highlighted.
Aguirre Martínez, María Alejandra, Oliveros Orozco, Paula Andrea, Suárez Camargo, Mónica Natalia, Guerrero Marín, María Angélica   +3 more
core