Cargando…

Novel Genetic Diagnoses in Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors...

Descripción completa

Detalles Bibliográficos
Autores principales:	Reis, Linda M., Seese, Sarah, Maheshwari, Mohit, Basel, Donald, Weik, LuAnn, McCarrier, Julie, Semina, Elena V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320703/ https://www.ncbi.nlm.nih.gov/pubmed/35885948 http://dx.doi.org/10.3390/genes13071165

Ejemplares similares

Septo-optic dysplasia/de Morsier's syndrome
por: Reis, Pedro, et al.
Publicado: (2017)

Septo-optic dysplasia in an infant
por: Aliu, Ermira, et al.
Publicado: (2022)

Bilateral anophthalmia with septo-optic dysplasia
por: Jana, Manisha, et al.
Publicado: (2010)

Septo-optic Dysplasia Plus Syndrome
por: Gutierrez-Castillo, Alejandro, et al.
Publicado: (2018)

Septo-optic Dysplasia with Cerebellar Hemiagenesis
por: Parry, Arshed H, et al.
Publicado: (2020)

Septo-optic dysplasia with olfactory tract hypoplasia
por: Ribeiro, Manuel, et al.
Publicado: (2009)

Septo-optic dysplasia plus: a case report
por: Zoric, Lepsa, et al.
Publicado: (2014)

Unilateral Closed Lip Schizencephaly with Septo-Optic Dysplasia
por: Bhatnagar, S, et al.
Publicado: (2014)

Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia
por: Oyadiran, Oluwatosin O, et al.
Publicado: (2021)

Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
por: Palorath, Aishwarya, et al.
Publicado: (2021)

Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives
por: Ganau, Mario, et al.
Publicado: (2019)

Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia
por: Wang, Colin Y., et al.
Publicado: (2020)

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children
por: Al-Senawi, Rana, et al.
Publicado: (2013)

A Case of Schizencephaly and Septo-Optic Dysplasia Presenting with Anterior Encephalocele
por: FADAKAR, Kaveh, et al.
Publicado: (2012)

Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases
por: Koizumi, Mikiko, et al.
Publicado: (2017)

Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
por: McCabe, Mark J., et al.
Publicado: (2013)

Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils
por: Jabeen, Mehnaz, et al.
Publicado: (2016)

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan
por: Nagasaki, Keisuke, et al.
Publicado: (2017)

Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia
por: Shinar, S., et al.
Publicado: (2020)

Septo-optic dysplasia with amniotic band syndrome sequence: a case report
por: Amiji, Insiyah A., et al.
Publicado: (2019)

Acceleration of Puberty During Growth Hormone Therapy in a Child with Septo-Optic Dysplasia
por: Çatlı, Gönül, et al.
Publicado: (2014)

A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD)
por: Cichocki, Marcin, et al.
Publicado: (2014)

A multicenter study of endocrine abnormalities in septo-optic dysplasia (SOD) in Asean countries
por: Wacharasindhu, Suttipong, et al.
Publicado: (2015)

Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin
por: Garvin, Jodi, et al.
Publicado: (2015)

Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia
por: Fukuyama, Takahiro, et al.
Publicado: (2021)

ODP388 Hypernatremia in a Male Adolescent Leading to Diagnosis of Septo-optic Dysplasia
por: Currais, Carolina, et al.
Publicado: (2022)

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report
por: Al-Salihi, Mohammed Maan, et al.
Publicado: (2023)

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review
por: Mann, Amy, et al.
Publicado: (2023)

Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course()()()()()
por: AlKhateeb, Mashael, et al.
Publicado: (2017)

Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
por: Pozzi, Sara, et al.
Publicado: (2017)

Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders
por: Cerbone, M., et al.
Publicado: (2020)

Unmasking of Partial Diabetes Insipidus during Stress but Not Maintenance Dosing of Glucocorticoids in an Infant with Septo-Optic Dysplasia
por: Puri, Mala, et al.
Publicado: (2011)

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
por: Fernández-Marmiesse, A., et al.
Publicado: (2019)

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report
por: Ham, Jeong A, et al.
Publicado: (2022)

Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report
por: Harras, Yahya EL, et al.
Publicado: (2023)

Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia
por: Vedin, Amy M, et al.
Publicado: (2011)

Septo–hippocampal interaction
por: Müller, Christina, et al.
Publicado: (2017)

Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)
por: McCabe, Mark J., et al.
Publicado: (2015)

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum
por: Reis, Linda M., et al.
Publicado: (2023)

Septo-Hippocampo-Septal Loop and Memory Formation
por: Khakpai, Fatemeh, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_2bkdnna3geh07cq23j9l50esig