review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Andrea Rossi | Q56166779 |
P2093 | author name string | Flavia Napoli | |
Mohamad Maghnie | |||
Natascia Di Iorgi | |||
Anna E M Allegri | |||
Enrica Bertelli | |||
Irene Olivieri | |||
P2860 | cites work | Mutations in PROP1 cause familial combined pituitary hormone deficiency | Q24308762 |
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development | Q24315523 | ||
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss | Q24320099 | ||
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism | Q24531513 | ||
Empty sella in children and adolescents with possible hypothalamic- pituitary disorders | Q57632298 | ||
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 | ||
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency | Q24561792 | ||
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency | Q24658065 | ||
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency | Q28143870 | ||
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency | Q28145571 | ||
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene | Q28207803 | ||
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency | Q28215854 | ||
Pseudotumor of the pituitary due to PROP-1 deletion | Q28217112 | ||
Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurement | Q28244145 | ||
Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests | Q28249181 | ||
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia | Q28257119 | ||
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations | Q28280013 | ||
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency | Q28283073 | ||
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development | Q28295473 | ||
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome | Q28298470 | ||
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes | Q28594392 | ||
Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate | Q30947967 | ||
Age-related pituitary volumes in prepubertal children with normal endocrine function: volumetric magnetic resonance data | Q30985498 | ||
Genetic regulation of pituitary gland development in human and mouse | Q33590141 | ||
Early steps in pituitary organogenesis | Q33650524 | ||
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. | Q34119879 | ||
Molecular basis of combined pituitary hormone deficiencies | Q34146692 | ||
HESX1 and Septo-Optic Dysplasia | Q34158374 | ||
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. | Q34160940 | ||
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations | Q34164167 | ||
Mutations in SOX2 cause anophthalmia | Q34180637 | ||
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations | Q34328168 | ||
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype | Q34474376 | ||
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities | Q34561635 | ||
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome | Q34565729 | ||
Consensus statement on the management of the GH-treated adolescent in the transition to adult care. | Q36061112 | ||
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? | Q36214845 | ||
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. | Q36494440 | ||
Genetics of growth hormone deficiency | Q36750993 | ||
Magnetic resonance images of 91 children with different causes of short stature: pituitary size reflects growth hormone secretion | Q36890433 | ||
Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinol | Q37023586 | ||
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Q37089385 | ||
The role of SOX proteins in normal pituitary development | Q37346802 | ||
Facial and pituitary morphology are related in Dutch patients with GH deficiency | Q39828107 | ||
Reassessment of the growth hormone status in young adults with childhood-onset growth hormone deficiency: reappraisal of insulin tolerance testing | Q39937832 | ||
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency | Q43255129 | ||
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation | Q43732452 | ||
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis | Q45096678 | ||
Do all patients with childhood-onset growth hormone deficiency (GHD) and ectopic neurohypophysis have persistent GHD in adulthood? | Q45152619 | ||
Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. | Q46026266 | ||
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. | Q46446572 | ||
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. | Q46482864 | ||
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. | Q46520911 | ||
Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion | Q46831269 | ||
Growth and adult height in GH-treated children with nonacquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findings | Q47200741 | ||
Role of SOX2 mutations in human hippocampal malformations and epilepsy | Q47219057 | ||
A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations | Q47275198 | ||
Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies | Q47338121 | ||
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe | Q47651090 | ||
Deterioration of growth hormone (GH) response and anterior pituitary function in young adults with childhood-onset GH deficiency and ectopic posterior pituitary: a two-year prospective follow-up study | Q48089195 | ||
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. | Q48100245 | ||
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation. | Q48107115 | ||
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica | Q48155664 | ||
Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function | Q48164255 | ||
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation | Q48259119 | ||
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. | Q48279925 | ||
MRI findings of the pituitary gland in short children born small for gestational age (SGA) in comparison with growth hormone-deficient (GHD) children and children with normal stature | Q48435095 | ||
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes | Q48454502 | ||
Magnetic resonance imaging in the diagnosis of growth hormone deficiency | Q48473818 | ||
Hypothalamic-pituitary dysfunction in growth hormone-deficient patients with pituitary abnormalities | Q48695880 | ||
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene | Q48698082 | ||
Likelihood of persistent GH deficiency into late adolescence: relationship to the presence of an ectopic or normally sited posterior pituitary gland. | Q48737795 | ||
Prenatal MR imaging of the normal pituitary stalk | Q48767253 | ||
Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique | Q48822159 | ||
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). | Q48849523 | ||
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary | Q48881868 | ||
Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function | Q48923277 | ||
Evaluation of anterior pituitary gland volume in childhood using three-dimensional MRI. | Q51682283 | ||
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. | Q51968780 | ||
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. | Q52012746 | ||
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. | Q52040037 | ||
SOX2 anophthalmia syndrome. | Q52053221 | ||
P433 | issue | 2 | |
P921 | main subject | neuroimaging | Q551875 |
P304 | page(s) | 161-176 | |
P577 | publication date | 2012-02-01 | |
P1433 | published in | Clinical Endocrinology | Q15762781 |
P1476 | title | The use of neuroimaging for assessing disorders of pituitary development | |
P478 | volume | 76 |
Q30848681 | Combined pituitary hormone deficiency: current and future status |
Q87479261 | Diagnostic pitfalls in the assessment of congenital hypopituitarism |
Q30868115 | Early retesting by GHRH + arginine test shows normal GH response in most children with idiopathic GH deficiency |
Q64227302 | Growth Hormone (GH) Therapy During the Transition Period: Should We Think About Early Retesting in Patients with Idiopathic and Isolated GH Deficiency? |
Q38931908 | High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis. |
Q35225089 | Magnetic resonance imaging of sellar and juxtasellar abnormalities in the paediatric population: an imaging review |
Q39012754 | Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism |
Q92431791 | PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW |
Q46372894 | Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings |
Q30698221 | Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions |
Q61453842 | Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency |
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