Disease: Corpus callosum dysgenesis hypopituitarism
- A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD)
- A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies
- A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes
- A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2
- A rare case of type 1 diabetes mellitus with pituitary hypoplasia
- A unilateral cleft lip patient with holoprosencephaly
- A variant form of septo-optic-pituitary dysplasia (SOPD) complicated with acute optic neuritis
- Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia
- AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM
- Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
- Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study
- Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene
- Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features
- Clinical and Biochemical Features of Hypopituitarism Among Brazilian Children With Zika Virus-Induced Microcephaly
- Clinical characteristics of central diabetes insipidus: a retrospective analysis of 230 cases
- Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
- Delineating septo-optic dysplasia
- Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency
- Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia
- Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study
- Evidence for possible Mendelian inheritance of septo-optic dysplasia
- Extra-Pituitary Birth Defects May Predict Diagnosis of Congenital Hypopituitarism in a Short Child
- Extra-pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MRI protocol (FAST1.2)
- Facial clefts involving the midline in combination with intracranial anomalies: case studies illustrating surgical treatment and medical substitution
- FEVR phenotype associated with septo-optic dysplasia
- Focal congenital hyperinsulinism in a patient with septo-optic dysplasia
- Genetic causes of pituitary hormone deficiencies
- Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia
- Growth hormone deficiency in a case of septo-optic-dysplasia due to <em>SOX2</em> mutation: should we re-test patients during the transition period?
- HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
- Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
- Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism
- How does pregnancy affect the patients with pituitary adenomas: a study on 113 pregnancies from Turkey
- Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia
- Hypopituitarism associated with brain malformations
- Imaging of pediatric pituitary endocrinopathies
- Infantile infection and diabetes insipidus in children with optic nerve hypoplasia
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism
- Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
- Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
- Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia
- Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism
- Natural course of septo-optic dysplasia: retrospective analysis of 20 cases
- Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives
- Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review
- Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study
- New insights into septo-optic dysplasia
- Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)
- Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly
- Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency
- Optic nerve hypoplasia and septo-optic dysplasia
- Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature
- Outcome of isolated agenesis of the corpus callosum: A population-based prospective study
- Panhypopituitarism: genetic versus acquired etiological factors
- Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome
- Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
- Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum
- Pituitary Transcription Factor Mutations Leading to Hypopituitarism
- Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia
- Rare case of skeletal third class in a subject suffering from Solitary Median Maxillary Central Incisor syndrome (SMMCI) associated to panhypopituitarism
- Reappraisal of the optic nerve hypoplasia syndrome
- Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
- Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency
- Resident portfolio: "She was hideous"--the effect of negative emotions on physician-patient interaction
- Rest-activity patterns in children with hypopituitarism
- Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia
- Septo optic dysplasia plus: about a case
- Septo-optic dysplasia
- Septo-optic dysplasia
- Septo-optic dysplasia
- Septo-optic dysplasia
- Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant
- Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children
- Septo-optic dysplasia with amniotic band syndrome sequence: a case report
- Septo-optic dysplasia with congenital hepatic fibrosis
- Septo-optic dysplasia--omitted interdisciplinary clinic entity: report on three patients
- Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study
- Septo-optic dysplasia: fitting the pieces together
- Septooptic dysplasia
- Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis
- Solitary median maxillary central incisor (SMMCI) syndrome
- Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report
- Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects
- Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study
- Structural pituitary abnormalities associated with CHARGE syndrome
- The central diabetes insipidus associated with septo-optic dysplasia (de Morsier syndrome)
- The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia
- The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism
- The Molecular Basis of Congenital Hypopituitarism and Related Disorders
- The phenotypic spectrum associated with OTX2 mutations in humans
- The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism
- The syndrome of optic nerve hypoplasia
- The syndrome of septo-optic dysplasia in Saudi children
- Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism
- Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in <em>ROBO1</em>
- Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1
- Utilizing optical coherence tomography in diagnosing a unique presentation of chiasmal hypoplasia variant of septo-optic dysplasia
- Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia
- Visual Vignette