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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Johannesen, Katrine; Iqba, Sumaiya; Guazz, Milena; Mohammadi, Nazanin; Pérez, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju; Ambegaonkar, Gautam; Firth, Helen; Sanchis, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva; Verbeek, Nienke; Van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde; Haeusle, Martin; Elbracht, Miriam; Vahe, Ulvi; Smol, Thomas; Lemke, Johannes; Platzer, Konrad; Kennedy, Joanna; Martin, Karl; Ping, Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin; Dinopoulos, Argirios; Campbell, Arthur; Lal, Dennis; Lederer, Damien; Liao, Vivian; Ahring, Philip; Møller, Rikke; Gardella, Elena (2021)

Purpose: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability ...

Caracteristicas genéticas e aspectos gerais do Transtorno do Espectro Autista

Cavalcante, Leonardo Sphair (2018)

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Johannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Pérez Palma, Eduardo; Schaefer, Elise; San Martín, Ana de; Abiwarde, María Teresa; McTague, Amy; Pons, Roser; Pitón, Amélie; kuriano, Manju un; Ambegaonkar, Gautam; Fiordo, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; Waele, Liesbeth De; Briltra, Eva H.; Verbeek, Nienke E.; Kempen, Marjan van; Fazeli, Walid; Striano, Pascual; Zara, Federico; Visser, Gerhard; Braakman, Hilde MH; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Tomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Martín Klein, Carlos; Billie Au, Ping Yee; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arturo J.; Lal, Dennis; Lederer, Damian; Liao, Vivian Wy; Ahring, Felipe K.; Møller, Rikke S.; Gardella, Elena (2021)

Purpose Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability ...

Identificación de mutaciones en los genes GABRA1 y GABRB3 de pacientes mexicanos con encefalopatías epilépticas, a través de secuenciación automatizada tipo Sanger

Carrillo Cruz, Isaura Karina (2018)

Estudio molecular del gen GABRB3 en pacientes mestizo -mexicanos con epilepsia de ausencias de la niñez

Enríquez Bolio, Sara Berenice (2017)

Polymorphisms in GABRB3 and Oral Clefting in the Brazilian Population

Filezio, MR; Bagordakis, E; de Aquino, SN; Messetti, ACP; Martelli, H; Swerts, MSO; Graner, E; Coletta, RD; Paranaiba, LMR (Mary Ann Liebert IncNew RochelleEUA, 2013)

Análisis molecular del gen GABRB3 en pacientes con autismo: Estudio exploratorio.

Solís-Añez, Ernesto; Delgado-Luengo, Wilmer; Borjas-Fuentes, Lisbeth; Zabala, William; Arráiz, Nailet; Pineda, Lennie; Portillo, María Gabriela; González-Ferrer, Sandra; Chacín, José Antonio; Peña, Joaquín; Montiel, Cecilia; Morales, Alisandra; Rojas de Atencio, Alicia; Cañizales, Jenny; González, Richard; Miranda, Luis Eduardo; Abreu, Nivia; Delgado, Juana (Universidad del Zulia, 2009)

Evidence for Interaction Between Markers in GABA(A) Receptor Subunit Genes in an Argentinean Autism Spectrum Disorder Population

Sesarini, Carla Vanina; Costa, Lucas; Naymark, Muriel; Grañana, Nora Estela; Cajal, Andrea; García Coto, Miguel; Pallia, Roberto C.; Argibay, Pablo (Wiley, 2013-11)

Autism spectrum disorders (ASD) can be conceptualized as a genetic dysfunction that disrupts development and function of brain circuits mediating social cognition and language. At least some forms of ASD may be associated ...

High Diagnostic Accuracy Based on CLDN10, HMGA2, and LAMB3 Transcripts in Papillary Thyroid Carcinoma

AC Camargo Canc Ctr; Universidade Estadual Paulista (Unesp) (Endocrine Soc, 2015-06-01)

Context: Thyroid nodules are common in adult population and papillary thyroid carcinoma (PTC) is the most frequent malignant finding. The natural history of PTC remains poorly understood and current diagnostic methods ...

Relevância da genética na etiologia do autismo

Universidade Estadual Paulista (Unesp); Faculdade de Medicina de São José do Rio Preto (FAMERP) (2000-07-01)

Autism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. ...