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1.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33098107
2.
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
BMC Med Genet
; 15: 139, 2014 Dec 19.
Article
in English
| MEDLINE | ID: mdl-25524009
3.
Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.
Eur J Hum Genet
; 27(2): 216-225, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30262920
4.
Involvement of the pituitary-specific transcription factor pit-1 in somatolactotrope cell growth and death: an approach using dominant-negative pit-1 mutants.
Mol Endocrinol
; 20(12): 3212-27, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-16901973
5.
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Eur J Endocrinol
; 174(6): R239-47, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-26733480
6.
Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants.
Endocrinology
; 143(8): 2839-51, 2002 Aug.
Article
in English
| MEDLINE | ID: mdl-12130547
7.
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
J Clin Endocrinol Metab
; 97(1): E121-8, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22013103
8.
Truncation of PITX2 differentially affects its activity on physiological targets.
J Mol Endocrinol
; 46(1): 9-19, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-20978111
9.
Inactivation of PITX2 transcription factor induced apoptosis of gonadotroph tumoral cells.
Endocrinology
; 152(10): 3884-92, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21810944
10.
Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Expert Rev Endocrinol Metab
; 3(6): 751-760, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-30764064
11.
Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.
J Biol Chem
; 277(46): 44408-16, 2002 Nov 15.
Article
in English
| MEDLINE | ID: mdl-12223489
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