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Literature DB >> 19623216

Septo-optic dysplasia.

Abstract

This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management of these phenotypically variable patients.

Entities: Disease Gene Species

Mesh：

Year: 2009 PMID： 19623216 PMCID： PMC2987262 DOI： 10.1038/ejhg.2009.125

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

39 in total

1. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

Authors: Nadine G Haddad; Erica A Eugster
Journal: J Pediatr Endocrinol Metab Date: 2005-09 Impact factor: 1.634

2. Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

Authors: Marie-Laure Sobrier; Irène Netchine; Claudine Heinrichs; Nathalie Thibaud; Marie-Pierre Vié-Luton; Guy Van Vliet; Serge Amselem
Journal: Hum Mutat Date: 2005-05 Impact factor: 4.878

3. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England.

Authors: Leena Patel; Richard J Q McNally; Elizabeth Harrison; I Christopher Lloyd; Peter E Clayton
Journal: J Pediatr Date: 2006-01 Impact factor: 4.406

4. The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation.

Authors: J P Martinez-Barbera; T A Rodriguez; R S Beddington
Journal: Dev Biol Date: 2000-07-15 Impact factor: 3.582

5. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

Authors: M Lourdes Garcia; Edna B Ty; Mehryar Taban; A David Rothner; Douglas Rogers; Elias I Traboulsi
Journal: J Child Neurol Date: 2006-11 Impact factor: 1.987

6. Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum.

Authors: A Morishima; G S Aranoff
Journal: Brain Dev Date: 1986 Impact factor: 1.961

7. Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

Authors: Ezat Sajedi; Carles Gaston-Massuet; Massimo Signore; Cynthia L Andoniadou; Daniel Kelberman; Sandra Castro; Heather C Etchevers; Dianne Gerrelli; Mehul T Dattani; Juan Pedro Martinez-Barbera
Journal: Dis Model Mech Date: 2008-11-06 Impact factor: 5.758

8. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.

Authors: Ameeta Mehta; Peter C Hindmarsh; Hiten Mehta; James P G Turton; Isabelle Russell-Eggitt; David Taylor; W K Chong; Mehul T Dattani
Journal: Clin Endocrinol (Oxf) Date: 2009-03-06 Impact factor: 3.478

Review 9. Septo-optic dysplasia - novel insights into the aetiology.

Authors: Daniel Kelberman; Mehul Tulsidas Dattani
Journal: Horm Res Date: 2008-02-06

10. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Authors: Kathleen A Williamson; Ann M Hever; Joe Rainger; R Curtis Rogers; Alex Magee; Zdenek Fiedler; Wee Teik Keng; Freddie H Sharkey; Niolette McGill; Clare J Hill; Adele Schneider; Mario Messina; Peter D Turnpenny; Judy A Fantes; Veronica van Heyningen; David R FitzPatrick
Journal: Hum Mol Genet Date: 2006-03-16 Impact factor: 6.150

55 in total

Septo-optic dysplasia.

1. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

2. Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

3. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England.

4. The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation.

5. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

6. Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum.

7. Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

8. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.

Review 9. Septo-optic dysplasia - novel insights into the aetiology.

10. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

1. Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.

Review 2. Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.

3. Midbrain-hindbrain involvement in septo-optic dysplasia.

4. Septo-optic dysplasia plus diagnosed in adulthood.

5. Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations.

6. Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.

Review 7. Ophthalmic manifestations of endocrine disorders-endocrinology and the eye.

8. Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report.

Review 9. Ophthalmic clues to the endocrine disorders.

10. Septo-optic dysplasia: fitting the pieces together.