The use of neuroimaging for assessing disorders of pituitary development.

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The use of neuroimaging for assessing disorders of pituitary development. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1111/J.1365-2265.2011.04238.X
P698PubMed publication ID21955099
P5875ResearchGate publication ID51677828

P50authorAndrea RossiQ56166779
P2093author name stringFlavia Napoli
Mohamad Maghnie
Natascia Di Iorgi
Anna E M Allegri
Enrica Bertelli
Irene Olivieri
P2860cites workMutations in PROP1 cause familial combined pituitary hormone deficiencyQ24308762
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentQ24315523
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossQ24320099
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismQ24531513
Empty sella in children and adolescents with possible hypothalamic- pituitary disordersQ57632298
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 deficiencyQ24561792
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiencyQ24658065
Mutations in the human Sonic Hedgehog gene cause holoprosencephalyQ28116314
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiencyQ28143870
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiencyQ28145571
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 geneQ28207803
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiencyQ28215854
Pseudotumor of the pituitary due to PROP-1 deletionQ28217112
Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurementQ28244145
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 testsQ28249181
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasiaQ28257119
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerationsQ28280013
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyQ28283073
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human developmentQ28295473
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeQ28298470
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromesQ28594392
Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigateQ30947967
Age-related pituitary volumes in prepubertal children with normal endocrine function: volumetric magnetic resonance dataQ30985498
Genetic regulation of pituitary gland development in human and mouseQ33590141
Early steps in pituitary organogenesisQ33650524
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 deficienciesQ34146692
HESX1 and Septo-Optic DysplasiaQ34158374
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 mutationsQ34164167
Mutations in SOX2 cause anophthalmiaQ34180637
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsQ34328168
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeQ34474376
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalitiesQ34561635
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeQ34565729
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 deficiencyQ36750993
Magnetic resonance images of 91 children with different causes of short stature: pituitary size reflects growth hormone secretionQ36890433
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 EndocrinolQ37023586
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like featuresQ37089385
The role of SOX proteins in normal pituitary developmentQ37346802
Facial and pituitary morphology are related in Dutch patients with GH deficiencyQ39828107
Reassessment of the growth hormone status in young adults with childhood-onset growth hormone deficiency: reappraisal of insulin tolerance testingQ39937832
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiencyQ43255129
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutationQ43732452
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysisQ45096678
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 secretionQ46831269
Growth and adult height in GH-treated children with nonacquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findingsQ47200741
Role of SOX2 mutations in human hippocampal malformations and epilepsyQ47219057
A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformationsQ47275198
Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficienciesQ47338121
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobeQ47651090
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 studyQ48089195
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 turcicaQ48155664
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 functionQ48164255
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotationQ48259119
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 statureQ48435095
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genesQ48454502
Magnetic resonance imaging in the diagnosis of growth hormone deficiencyQ48473818
Hypothalamic-pituitary dysfunction in growth hormone-deficient patients with pituitary abnormalitiesQ48695880
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 geneQ48698082
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 stalkQ48767253
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 techniqueQ48822159
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 pituitaryQ48881868
Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary functionQ48923277
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
P433issue2
P921main subjectneuroimagingQ551875
P304page(s)161-176
P577publication date2012-02-01
P1433published inClinical EndocrinologyQ15762781
P1476titleThe use of neuroimaging for assessing disorders of pituitary development
P478volume76

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cites work (P2860)
Q30848681Combined pituitary hormone deficiency: current and future status
Q87479261Diagnostic pitfalls in the assessment of congenital hypopituitarism
Q30868115Early retesting by GHRH + arginine test shows normal GH response in most children with idiopathic GH deficiency
Q64227302Growth Hormone (GH) Therapy During the Transition Period: Should We Think About Early Retesting in Patients with Idiopathic and Isolated GH Deficiency?
Q38931908High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis.
Q35225089Magnetic resonance imaging of sellar and juxtasellar abnormalities in the paediatric population: an imaging review
Q39012754Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
Q92431791PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW
Q46372894Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings
Q30698221Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions
Q61453842Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency

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