|1|Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
Marzuillo P.... Perrone L.
|2|Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. (22610272)
KAPstA1 M.... Caksen H.
|3|Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations. (22761912)
Galeotti C.... Brauner R.
|4|A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. (21816782)
Shohreh R.... Salvatori R.
|5|Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. (19491227)
Padidela R.... Dattani M.T.
|6|De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. (19839043)
Brunetti-Pierri N.... Heptulla R.A.
|7|Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female. (20130813)
Bowden S.A.... Klingele K.E.
|8|Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. (18564411)
Dagdelen S.... Erbas T.
|9|Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
Baban A.... De Toni T.
|10|Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. (24256897)
|11|Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. (17975001)
Chesnokova V.... Melmed S.
|12|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. (17527005)
Tajima T.... Fujieda K.
|13|Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
Mantamadiotis T.... SchA1tz G.
|14|Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)
BaA9 F.... GA1nAPz H.
|15|Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)
Nolen L.D.... Jamieson R.V.
|16|Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. (16061826)
De Menis E.... Cremonini N.
|17|Loss of Gq/11 family G proteins in the nervous system causes pituitary somatotroph hypoplasia and dwarfism in mice. (15713647)
Wettschureck N.... Offermanns S.
|18|Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. (15168097)
Yekeler E.... Acunas G.
|19|Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. (15459176)
Nasonkin I.O.... Camper S.A.
|20|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. (15480381)
Birkebaek N.H.... Clayton P.E.
|21|Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. (12519827)
Tajima T.... Fujieda K.
|22|Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. (12856176)
Inamo Y.... Harada K.
|23|Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. (14602762)
Birkebaek N.H.... Clayton P.E.
|24|Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. (12165803)
Goto M.... Hayashi Y.
|25|Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. (12130566)
Moons D.S.... Kiyokawa H.
|26|Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene. (12083815)
Shalitin S.... Weintrob N.
|27|Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division. (11682618)
Wang Z.... Melmed S.
|28|Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. (11549674)
Riepe F.G.... Sippell W.G.
|29|Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report. (11262699)
Schulz E.... Jung H.
|30|Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)
Thomas P.Q.... Beddington R.S.
|31|Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)
Murray R.A.... Baumann G.
|32|Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita. (10931089)
Takahashi I.... Takada G.
|33|Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)
Wallace M.J.... Rotin D.
|34|Optic nerve hypoplasia with posterior pituitary ectopia: male predominance and nonassociation with breech delivery. (10030584)
|35|Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? (10051020)
Al-Gazali L.I.... Nork M.
|36|Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. (9605291)
Lemyre E.... Lambert M.
|37|Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)
Ward L.... Van Vliet G.
|38|Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. (9063431)
Takahashi T.... Takada G.
|39|Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
BossAc R.... Caron M.G.
|40|Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. (9152090)
Mark A.S.... Kolsky M.
|41|Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. (8909213)
Sorkin J.A.... Lambert S.R.
|42|Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. (8961130)
Shulman D.I.... Martinez C.R.
|43|Pituitary hypoplasia associated with a single central maxillary incisor. (8961131)
Matthai S.M.... Smith C.S.
|44|Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. (8770879)
Habiby R.L.... Jameson J.L.
|45|Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
Cianfarani S.... Boscherini B.
|46|Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. (1509263)
Pfaeffle R.W.... Ingraham H.A.
|47|Magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. (2803098)
Kaufman L.M.... Mafee M.F.
|48|Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. (3976626)
Margalith D.... Jan J.E.
|49|Hypothalamic-pituitary function in children with optic nerve hypoplasia. (2983530)
Costin G.... Murphree A.L.
|50|Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome. (7043865)