Results 21 to 30 of about 68 (66)

Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships. [PDF]

Genes (Basel), 2023
Bel-Fenellós C, Biencinto-López C, Sáenz-Rico B, Sáenz-Rico B, Hernández A, Sandoval-Talamantes AK, Tenorio-Castaño J, Lapunzina P, Nevado J.   +8 more
europepmc   +1 more source

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. [PDF]

Eur J Hum Genet, 2021
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C.   +20 more
europepmc   +1 more source

Scientific Abstracts of the 16th Congress of the European Academy of Paediatric Dentistry (EAPD), Lisbon, Portugal, June 15-18, 2022. [PDF]

Eur Arch Paediatr Dent, 2023
europepmc   +1 more source

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. [PDF]

Colomb Med (Cali), 2019
Ramirez-Montaño D, Pachajoa H.
europepmc   +1 more source

Abstracts from the 54^th European Society of Human Genetics (ESHG) Conference: e-Posters. [PDF]

Eur J Hum Genet, 2022
europepmc   +1 more source

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility. [PDF]

Cell Mol Life Sci
Foglia M, Guarrera L, Kurosaki M, Cassanmagnago GA, Bolis M, Miduri M, Cereseto A, Umbach A, Craparotta I, Fratelli M, Vallerga A, Paroni G, Zanetti A, Cavallaro AV, Russo L, Garattini E, Terao M.   +16 more
europepmc   +1 more source

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

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. [PDF]

Dialogues Clin Neurosci, 2017
Fernandez BA, Scherer SW.
europepmc   +1 more source

Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities. [PDF]

J Community Genet
Rojas PLP, Mora LM, Rincón JS, Montoya IZ, León-Sanabria MC, Urueña-Serrano AM.   +5 more
europepmc   +1 more source

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. [PDF]

J Med Genet
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC.   +51 more
europepmc   +1 more source