[Congenital hypopituitarism: when should transcription factor gene screenings be performed?]

scientific article published on 01 March 2004

[Congenital hypopituitarism: when should transcription factor gene screenings be performed?] is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1016/S0755-4982(04)98607-1
P698PubMed publication ID15105786

P50authorAlexandru SaveanuQ42842237
Thierry BrueQ40173582
P2093author name stringRachel Reynaud
Alain Enjalbert
Anne Barlier
Molka Chadli-Chaieb
Gilbert Simonin
P2860cites workLHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genesQ40820323
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD IIQ44421288
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfismQ44505357
Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.Q46317908
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patientQ47707976
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 geneQ48319214
Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor geneQ48355122
Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown originQ48436209
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeQ50336618
The molecular genetics of growth hormone deficiencyQ57263871
MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutationsQ73409499
Mutations in PROP1 cause familial combined pituitary hormone deficiencyQ24308762
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humansQ24323379
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.Q24536132
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell typesQ28137623
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiencyQ28145571
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
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyQ28283073
Tpit determines alternate fates during pituitary cell differentiationQ28508185
Specification of pituitary cell lineages by the LIM homeobox gene Lhx3Q28510870
Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg->Cys at Codon 120 (R120C)Q29398239
Rieger syndrome: a clinical, molecular, and biochemical analysis.Q34090535
HESX1 and Septo-Optic DysplasiaQ34158374
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptorQ34446712
Other transcription factors and hypopituitarismQ34992939
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiencyQ35964450
P433issue6
P407language of work or nameFrenchQ150
P304page(s)400-405
P577publication date2004-03-01
P1433published inPresse médicaleQ127260618
P1476title[Congenital hypopituitarism: when should transcription factor gene screenings be performed?]
P478volume33