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1-7 of 7
Keywords: Language impairment
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2025) 16 (2): 171–179.
Published Online: 26 September 2024
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2024 CUL3 Cullin-3 Whole-exome sequencing Language impairment NEDAUS phenotype Established Facts...
Journal Articles
Subject Area:
Topic Article Package: Moksha
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Mara Dierssen, Yann Herault, Pablo Helguera, Maria Martínez de Lagran, Anna Vazquez, Bradley Christian, Maria Carmona-Iragui, Frances Wiseman, William Mobley, Elizabeth M.C. Fisher, Veronique Brault, Anna Esbensen, Lisa M. Jacola, Marie Claude Potier, Eric D. Hamlett, Leonard Abbeduto, Laura del Hoyo Soriano, Jorge Busciglio, Maria Florencia Iulita, John Crispino, Sébastien Malinge, Eugenio Barone, Marzia Perluigi, Floriana Costanzo, Jean Maurice Delabar, Renata Bartesaghi, Alain D. Dekker, Peter De Deyn, Juan Fortea Ormaechea, Patricia A. Shaw, Tarik F. Haydar, Stephanie L. Sherman, André Strydom, Anita Bhattacharyya
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (4): 202–218.
Published Online: 20 May 2021
... systems were discussed. Down syndrome Intellectual disability Language impairment Mouse models Neurodevelopmental disorders Alzheimer’s disease Biomarkers Trisomy 21 Research Society National Institutes of Health (NIH) 10.13039/100000002 Trisomy 21 (T21) causes Down...
Journal Articles
Subject Area:
Topic Article Package: Moksha
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Durdugul Ayyildiz Emecen, Esra Isik, Gulen E. Utine, Pelin O. Simsek-Kiper, Tahir Atik, Ferda Ozkinay
Journal:
Molecular Syndromology
Mol Syndromol (2020) 11 (5-6): 296–301.
Published Online: 20 November 2020
... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Facial dysmorphism Genetic syndrome Language impairment Mowat-Wilson syndrome ZEB2...
Journal Articles
Subject Area:
Topic Article Package: Moksha
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Anastasios Mitrakos, Leandros Lazaros, Amelia Pantou, Ariadni Mavrou, Emmanuel Kanavakis, Maria Tzetis
Journal:
Molecular Syndromology
Mol Syndromol (2020) 11 (3): 141–145.
Published Online: 13 June 2020
... Haploinsufficiency Intellectual disability Language impairment • Coffin-Siris syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities...
Journal Articles
Subject Area:
Topic Article Package: IALP
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2018) 9 (2): 83–91.
Published Online: 11 January 2018
...Salud Jiménez-Romero; Pilar Carrasco-Salas; Antonio Benítez-Burraco Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2017) 8 (3): 139–147.
Published Online: 14 April 2017
... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Copy number variations Cognitive delay Language impairment Microduplication 15q11.2 BP1...
Journal Articles
Subject Area:
Topic Article Package: IALP
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (5): 292–298.
Published Online: 06 August 2016
... a reduced expression of some of these genes. • The region 7q32.1q33 emerges as a promising target for our search for new genes related to language dysfunction. Behavioral disturbances Copy number variations Cognitive delay Language impairment 7q32.1q33 • Chromosome 7 contains many...