review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0755-4982(04)98607-1 |
P698 | PubMed publication ID | 15105786 |
P50 | author | Alexandru Saveanu | Q42842237 |
Thierry Brue | Q40173582 | ||
P2093 | author name string | Rachel Reynaud | |
Alain Enjalbert | |||
Anne Barlier | |||
Molka Chadli-Chaieb | |||
Gilbert Simonin | |||
P2860 | cites work | LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes | Q40820323 |
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II | Q44421288 | ||
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism | Q44505357 | ||
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 patient | Q47707976 | ||
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene | Q48319214 | ||
Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene | Q48355122 | ||
Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin | Q48436209 | ||
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome | Q50336618 | ||
The molecular genetics of growth hormone deficiency | Q57263871 | ||
MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations | Q73409499 | ||
Mutations in PROP1 cause familial combined pituitary hormone deficiency | Q24308762 | ||
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans | Q24323379 | ||
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 GPR54 | Q24685744 | ||
Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types | Q28137623 | ||
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency | Q28145571 | ||
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 | ||
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency | Q28283073 | ||
Tpit determines alternate fates during pituitary cell differentiation | Q28508185 | ||
Specification of pituitary cell lineages by the LIM homeobox gene Lhx3 | Q28510870 | ||
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 Dysplasia | Q34158374 | ||
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor | Q34446712 | ||
Other transcription factors and hypopituitarism | Q34992939 | ||
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency | Q35964450 | ||
P433 | issue | 6 | |
P407 | language of work or name | French | Q150 |
P304 | page(s) | 400-405 | |
P577 | publication date | 2004-03-01 | |
P1433 | published in | Presse médicale | Q127260618 |
P1476 | title | [Congenital hypopituitarism: when should transcription factor gene screenings be performed?] | |
P478 | volume | 33 |