Cargando…

Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome

BACKGROUND: Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or intellectual disability. Clarification of the neurocognitive profile in KS may provide directions for education and treatment interventions for KS. Previous st...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Dongen, L. C. M., Wingbermühle, P. A. M., van der Veld, W. M., Stumpel, C., Kleefstra, T., Egger, J. I. M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Manuscripts
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850277/ https://www.ncbi.nlm.nih.gov/pubmed/30724417 http://dx.doi.org/10.1111/jir.12597

Ejemplares similares

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
por: Chen, Yi-Hsing, et al.
Publicado: (2014)

Exploring the behavioral and cognitive phenotype of KBG syndrome
por: van Dongen, Linde C.M., et al.
Publicado: (2019)

Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design
por: Egger, Jos, et al.
Publicado: (2022)

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment
por: Schott, Dina A., et al.
Publicado: (2018)

Behavior and cognitive functioning in Witteveen–Kolk syndrome
por: van Dongen, Linde C. M., et al.
Publicado: (2020)

Inhibition, shifting and updating in relation to psychometric intelligence across ability groups in the psychiatric population
por: Biesmans, K. E., et al.
Publicado: (2018)

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
por: van Dongen, Linde C. M., et al.
Publicado: (2017)

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants
por: Wingbermühle, Ellen, et al.
Publicado: (2022)

From Genotype to Phenotype—A Review of Kabuki Syndrome †
por: Barry, Kelly K., et al.
Publicado: (2022)

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes
por: Aukema, Sietse M., et al.
Publicado: (2022)

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
por: Kalinousky, Allison J., et al.
Publicado: (2022)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome
por: Ventola, Pamela, et al.
Publicado: (2019)

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
por: Shangguan, Huakun, et al.
Publicado: (2019)

Social cognitive training for adults with Noonan syndrome: a feasibility study
por: Roelofs, Renée L, et al.
Publicado: (2019)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Kabuki syndrome: clinical and molecular characteristics
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Neurobehavioral features in individuals with Kabuki syndrome
por: Caciolo, Cristina, et al.
Publicado: (2018)

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
por: Kumar, Jeevan M., et al.
Publicado: (2011)

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
por: Kim, Nam Gil, et al.
Publicado: (2011)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Anatomical and functional abnormalities on MRI in kabuki syndrome
por: Boisgontier, Jennifer, et al.
Publicado: (2018)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Kabuki Syndrome—Clinical Review with Molecular Aspects
por: Boniel, Snir, et al.
Publicado: (2021)

Anesthesia Geriatric Evaluation (AGE): A Care-Ethical Perspective of a Multi-Disciplinary Approach for Tailored Preoperative Interventions
por: Pel, E. L., et al.
Publicado: (2019)

Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome
por: Rouffiange, Lucie, et al.
Publicado: (2012)

Kabuki Make-Up Syndrome with Bilateral Dislocation of the Hip
por: Elmouhtadi, Aghoutane, et al.
Publicado: (2013)

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
por: Siminas, Sotirios, et al.
Publicado: (2015)

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
por: Lim, Chaemoon, et al.
Publicado: (2019)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

Carotid artery occlusion in Kabuki syndrome: Case report and literature review
por: Gatto, Luana A. M., et al.
Publicado: (2017)

Response Shift After Cognitive Behavioral Therapy Targeting Severe Fatigue: Explorative Analysis of Three Randomized Controlled Trials
por: Müller, Fabiola, et al.
Publicado: (2022)

Capillary malformations in a child with Kabuki syndrome: A case report
por: Geers, Nikki C., et al.
Publicado: (2019)

Factors associated with direct support professionals' behaviour in the physical activity support provided to people with intellectual disabilities
por: Bossink, L. W. M., et al.
Publicado: (2019)

Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review
por: Deng, Xiao-xian, et al.
Publicado: (2023)

Does Intraoperative Fibrinogen Affect Blood Loss or Transfusion Practice After Aortic Arch Surgery: A Prematurely Ended Randomized Trial
por: Vlot, Eline A., et al.
Publicado: (2022)

Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome
por: Kapoor, Shailendra
Publicado: (2015)

Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
por: Giordano, Paola, et al.
Publicado: (2014)

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl
por: Topcu, Yasemin, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_0ludhamv658bgt5u8rv65iatvp