| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Kyriaki S Alatzoglou | |
| Mehul T Dattani | |||
| Mark James McCabe | |||
| P433 | issue | 1 | |
| P921 | main subject | septo-optic dysplasia | Q2756703 |
| P304 | page(s) | 115-124 | |
| P577 | publication date | 2011-02-01 | |
| P1433 | published in | Best Practice and Research: Clinical Endocrinology and Metabolism | Q15755890 |
| P1476 | title | Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond | |
| P478 | volume | 25 |
| Q52092392 | A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency. |
| Q36122441 | ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous |
| Q90413351 | Antenatal diagnosis of absence of septum pellucidum |
| Q39332895 | Central hypothyroidism - a neglected thyroid disorder |
| Q37736165 | Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia. |
| Q36366089 | Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases |
| Q42281635 | Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan |
| Q38868271 | Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. |
| Q61795789 | Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification |
| Q28082907 | Congenital anomalies of the optic nerve |
| Q36807457 | Deletion of OTX2 in neural ectoderm delays anterior pituitary development |
| Q52140982 | Development of the Neuroendocrine Hypothalamus. |
| Q57642468 | Editors’ Introduction |
| Q36100642 | Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. |
| Q35869509 | Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia |
| Q38797075 | Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. |
| Q35899337 | Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies |
| Q52652594 | Growth hormone - past, present and future. |
| Q53775457 | Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression. |
| Q50421935 | Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. |
| Q50668102 | Midbrain-hindbrain involvement in septo-optic dysplasia. |
| Q50063427 | Nervous System Malformations |
| Q36284895 | Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). |
| Q37964618 | Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). |
| Q89540328 | Pituitary abnormalities in midline brain defects |
| Q37427898 | Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus |
| Q34546986 | Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia |
| Q37723287 | Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea |
| Q45867173 | Reply: To PMID 23460194. |
| Q58697169 | Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes |
| Q36624356 | Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils |
| Q91875312 | Septo-optic Dysplasia Plus Syndrome |
| Q92992906 | Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report |
| Q47219506 | Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective |
| Q46539892 | Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course |
| Q30933908 | Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study |
| Q41879212 | Structural pituitary abnormalities associated with CHARGE syndrome. |
| Q36563310 | Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans |
| Q37613192 | Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report |
| Q89629071 | Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia |
Search more.