-
1
-
-
0033612186
-
Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types
-
Dasen JS, O'Connell SM, Flynn SE et al. Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types. Cell 1999; 97: 587-98.
-
(1999)
Cell
, vol.97
, pp. 587-598
-
-
Dasen, J.S.1
O'Connell, S.M.2
Flynn, S.E.3
-
4
-
-
0038407911
-
Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene
-
Oliveira HA, Salvatori R, Krauss MP, Oliveira CR, Silva PR, Aguiar-Oliveira MH. Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene. EurJ Endocrinol 2003; 148: 427-32.
-
(2003)
EurJ Endocrinol
, vol.148
, pp. 427-432
-
-
Oliveira, H.A.1
Salvatori, R.2
Krauss, M.P.3
Oliveira, C.R.4
Silva, P.R.5
Aguiar-Oliveira, M.H.6
-
5
-
-
0037897328
-
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II
-
Ryther RC, McGuinness LM, Phillips JA 3rd, et al. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. Hum Genet 2003; 113: 140-8.
-
(2003)
Hum Genet
, vol.113
, pp. 140-148
-
-
Ryther, R.C.1
McGuinness, L.M.2
Phillips III, J.A.3
-
6
-
-
0036930374
-
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
-
Binder G, Nagel BH, Ranke MB, Mullis PE. 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. Eur J Endocrinol 2002; 147: 755-60.
-
(2002)
Eur J Endocrinol
, vol.147
, pp. 755-760
-
-
Binder, G.1
Nagel, B.H.2
Ranke, M.B.3
Mullis, P.E.4
-
7
-
-
0037444232
-
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency
-
Pulichino AM, Vallette-Kasic S, Couture C et al. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev 2003; 17: 711-16.
-
(2003)
Genes Dev
, vol.17
, pp. 711-716
-
-
Pulichino, A.M.1
Vallette-Kasic, S.2
Couture, C.3
-
8
-
-
0037444233
-
Tpit determines alternate fates during pituitary cell differentiation
-
Pulichino AM, Vallette-Kasic S, Tsai JP, Couture C, Gauthier Y, Drouin J. Tpit determines alternate fates during pituitary cell differentiation. Genes Dev 2003; 17: 738-47.
-
(2003)
Genes Dev
, vol.17
, pp. 738-747
-
-
Pulichino, A.M.1
Vallette-Kasic, S.2
Tsai, J.P.3
Couture, C.4
Gauthier, Y.5
Drouin, J.6
-
9
-
-
0031838353
-
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
-
Krude H, Biebermann H, Luck W et al. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998; 19: 155-7
-
(1998)
Nat Genet
, vol.19
, pp. 155-157
-
-
Krude, H.1
Biebermann, H.2
Luck, W.3
-
10
-
-
0038707519
-
X chromosome-linked Kallmann syndrome: Clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene
-
Massin N, Pecheux C, Eloit C et al. X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene J Clin Endocrinot Metab 2003; 88: 2003-8
-
(2003)
J Clin Endocrinot Metab
, vol.88
, pp. 2003-2008
-
-
Massin, N.1
Pecheux, C.2
Eloit, C.3
-
11
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, De Paepe A. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003; 33: 463-5.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
-
12
-
-
0030698188
-
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
-
de Roux N, Young J, Misrahi M et al E. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 1997; 337: 1597-602
-
(1997)
N Engl J Med
, vol.337
, pp. 1597-1602
-
-
De Roux, N.1
Young, J.2
Misrahi, M.3
-
13
-
-
0141814637
-
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
-
De Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci U S A. 2003; 100: 10972-6
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 10972-10976
-
-
De Roux, N.1
Genin, E.2
Carel, J.C.3
Matsuda, F.4
Chaussain, J.L.5
Milgrom, E.6
-
14
-
-
0025014024
-
Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
-
Li S, Crenshaw EB, 3rd, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature 1990; 347: 528-33.
-
(1990)
Nature
, vol.347
, pp. 528-533
-
-
Li, S.1
Crenshaw III, E.B.2
Rawson, E.J.3
Simmons, D.M.4
Swanson, L.W.5
Rosenfeld, M.G.6
-
15
-
-
1842848106
-
Other transcription factors and hypopituitarism
-
Cohen LE, Radovick S. Other transcription factors and hypopituitarism. Rev Endocr Metab Disord 2002; 3: 301-11.
-
(2002)
Rev Endocr Metab Disord
, vol.3
, pp. 301-311
-
-
Cohen, L.E.1
Radovick, S.2
-
16
-
-
0142179086
-
The de Novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient
-
Malvagia S, Poggi GM, Pasquini E et al. The de Novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. Pediatr Res 2003; 54: 635-40
-
(2003)
Pediatr Res
, vol.54
, pp. 635-640
-
-
Malvagia, S.1
Poggi, G.M.2
Pasquini, E.3
-
17
-
-
10544256602
-
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
-
Somson MW, Wu W, Dasen JS et al. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism. Nature 1996; 384: 327-33.
-
(1996)
Nature
, vol.384
, pp. 327-333
-
-
Somson, M.W.1
Wu, W.2
Dasen, J.S.3
-
18
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
Wu W, Cogan JD, Pfaffle RW et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 1998; 18: 147-9.
-
(1998)
Nat Genet
, vol.18
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
-
19
-
-
7844241236
-
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
-
Cogan JD, Wu W, Phillips JA 3rd et al. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 1998; 83: 3346-9.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3346-3349
-
-
Cogan, J.D.1
Wu, W.2
Phillips III, J.A.3
-
20
-
-
0031741771
-
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)
-
Fluck C, Deladoey J, Rutishauser K et al. 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). J Clin Endocrinol Metab 1998; 83: 3727-34.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3727-3734
-
-
Fluck, C.1
Deladoey, J.2
Rutishauser, K.3
-
21
-
-
17944378172
-
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency
-
Vallette-Kasic S, Badier A, Teinturier C et al. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab 2001; 86: 4529-35.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4529-4535
-
-
Vallette-Kasic, S.1
Badier, A.2
Teinturier, C.3
-
22
-
-
0033971815
-
MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations
-
Fofanova O, Takamura N, Kinoshita E et al. MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations. AJR Am J Roentgenol 2000; 174: 555-9.
-
(2000)
AJR Am J Roentgenol
, vol.174
, pp. 555-559
-
-
Fofanova, O.1
Takamura, N.2
Kinoshita, E.3
-
24
-
-
0034040904
-
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
-
Netchine I, Sobrier ML, Krude H et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 2000; 25: 182-6.
-
(2000)
Nat Genet
, vol.25
, pp. 182-186
-
-
Netchine, I.1
Sobrier, M.L.2
Krude, H.3
-
25
-
-
9344229266
-
Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
-
Sheng HZ, Zhadanov AB, Mosinger B, Jr et al. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 1996; 272: 1004-7.
-
(1996)
Science
, vol.272
, pp. 1004-1007
-
-
Sheng, H.Z.1
Zhadanov, A.B.2
Mosinger Jr., B.3
-
26
-
-
0035819896
-
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes
-
Sloop KW, Parker GE, Hanna KR, Wright HA, Rhodes SJ. LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes. Gene 2001; 265: 61-9.
-
(2001)
Gene
, vol.265
, pp. 61-69
-
-
Sloop, K.W.1
Parker, G.E.2
Hanna, K.R.3
Wright, H.A.4
Rhodes, S.J.5
-
27
-
-
0036745788
-
Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia
-
Raetzman LT, Ward R, Camper SA. Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia. Development 2002; 129: 4229-39.
-
(2002)
Development
, vol.129
, pp. 4229-4239
-
-
Raetzman, L.T.1
Ward, R.2
Camper, S.A.3
-
28
-
-
0034760533
-
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
-
Machinis K, Pantel J, Netchine I et aI. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 2001; 69: 961-8.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 961-968
-
-
Machinis, K.1
Pantel, J.2
Netchine, I.3
-
29
-
-
17344362762
-
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
Dattani MT, Martinez-Barbera JP, Thomas PO et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998; 19: 125-33.
-
(1998)
Nat Genet
, vol.19
, pp. 125-133
-
-
Dattani, M.T.1
Martinez-Barbera, J.P.2
Thomas, P.O.3
-
31
-
-
0033793783
-
Rieger syndrome: A clinical, molecular, and biochemical analysis
-
Amendt BA, Semina EV, Alward WL. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000; 57: 1652-66.
-
(2000)
Cell Mol Life Sci
, vol.57
, pp. 1652-1666
-
-
Amendt, B.A.1
Semina, E.V.2
Alward, W.L.3
|