-
1
-
-
0032433269
-
Formation of Rathke's pouch requires dual induction from the diencephalon
-
Takuma N, Sheng HZ, FurutaY, Ward JM, Sharma K, Hogan BL, Pfaff SL, Westphal H, Kimura S, Mahon KA: Formation of Rathke's pouch requires dual induction from the diencephalon. Development 1998;125:4835-4840.
-
(1998)
Development
, vol.125
, pp. 4835-4840
-
-
Takuma, N.1
Sheng, H.Z.2
Furuta, Y.3
Ward, J.M.4
Sharma, K.5
Hogan, B.L.6
Pfaff, S.L.7
Westphal, H.8
Kimura, S.9
Mahon, K.A.10
-
2
-
-
0032707757
-
Signaling mechanisms in pituitary morphogenesis and cell fate determination
-
Dasen JS, Rosenfeld MG: Signaling mechanisms in pituitary morphogenesis and cell fate determination. Curr Opin Cell Biol 1999;11:669-677.
-
(1999)
Curr Opin Cell Biol
, vol.11
, pp. 669-677
-
-
Dasen, J.S.1
Rosenfeld, M.G.2
-
3
-
-
0034916432
-
Signaling and transcriptional mechanisms in pituitary development
-
Dasen JS, Rosenfeld MG: Signaling and transcriptional mechanisms in pituitary development. Annu Rev Neurosci 2001;24:327-355.
-
(2001)
Annu Rev Neurosci
, vol.24
, pp. 327-355
-
-
Dasen, J.S.1
Rosenfeld, M.G.2
-
4
-
-
24644474710
-
Early development of the pituitary gland: Induction and shaping of Rathke's pouch
-
Rizzoti K, Lovell-Badge R: Early development of the pituitary gland: induction and shaping of Rathke's pouch. Rev Endocr Metab Disord 2005;6:161-172.
-
(2005)
Rev Endocr Metab Disord
, vol.6
, pp. 161-172
-
-
Rizzoti, K.1
Lovell-Badge, R.2
-
5
-
-
70350573860
-
Studies in cranio-encephalic dysraphia. I: Agenesis of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfactogenital dysplasia
-
de Morsier G: Studies in cranio-encephalic dysraphia. I: Agenesis of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfactogenital dysplasia. Schweiz Arch Neurol Psychiatr 1954;74:309-361.
-
(1954)
Schweiz Arch Neurol Psychiatr
, vol.74
, pp. 309-361
-
-
de Morsier, G.1
-
6
-
-
0001862237
-
Congenital absence of the septum pellucidum
-
Reeves DL: Congenital absence of the septum pellucidum. Bull Johns Hopkins Hosp 1941;69:61-71.
-
(1941)
Bull Johns Hopkins Hosp
, vol.69
, pp. 61-71
-
-
Reeves, D.L.1
-
8
-
-
0021143723
-
Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia
-
Arslanian SA, Rothfus WE, Foley TP Jr, Becker DJ: Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol (Copenh) 1984;107:282-288.
-
(1984)
Acta Endocrinol (Copenh)
, vol.107
, pp. 282-288
-
-
Arslanian, S.A.1
Rothfus, W.E.2
Foley Jr, T.P.3
Becker, D.J.4
-
9
-
-
0021359407
-
Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities
-
Stanhope R, Preece MA, Brook CG: Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities. Arch Dis Child 1984;59:111-114.
-
(1984)
Arch Dis Child
, vol.59
, pp. 111-114
-
-
Stanhope, R.1
Preece, M.A.2
Brook, C.G.3
-
10
-
-
17344362762
-
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
Dattani MT, Martinez-Barbera JP et al: Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-133.
-
(1998)
Nat Genet
, vol.19
, pp. 125-133
-
-
Dattani, M.T.1
Martinez-Barbera, J.P.2
-
11
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septooptic dysplasia
-
Thomas PQ, Dattani MT, Brickman JM et al: Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septooptic dysplasia. Hum Mol Genet 2001;10:39-45.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 39-45
-
-
Thomas, P.Q.1
Dattani, M.T.2
Brickman, J.M.3
-
12
-
-
33646029005
-
-
Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vie-Luton M P, Van VG, Amselem S: Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Hum Mutat 2005; 25: 503.
-
Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vie-Luton M P, Van VG, Amselem S: Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Hum Mutat 2005; 25: 503.
-
-
-
-
13
-
-
33846949363
-
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
-
McNay DE, Turton J P, Kelberman D et al: HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab 2007;92:691-697.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 691-697
-
-
McNay, D.E.1
Turton, J.P.2
Kelberman, D.3
-
14
-
-
30744468370
-
Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England
-
Patel L, McNally RJ, Harrison E, Lloyd IC, Clayton PE: Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr 2006;148:85-88.
-
(2006)
J Pediatr
, vol.148
, pp. 85-88
-
-
Patel, L.1
McNally, R.J.2
Harrison, E.3
Lloyd, I.C.4
Clayton, P.E.5
-
16
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
Laumonnier F, Ronce N, Hamel BCJ et al: Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 2002;71:1450-1455.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.J.3
-
19
-
-
0031903569
-
Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction
-
Kamachi Y, Uchikawa M, Collignon J, Lovell-Badge R, Kondoh H: Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction. Development 1998;125:2521-2532.
-
(1998)
Development
, vol.125
, pp. 2521-2532
-
-
Kamachi, Y.1
Uchikawa, M.2
Collignon, J.3
Lovell-Badge, R.4
Kondoh, H.5
-
20
-
-
13844250648
-
SOX genes and neural progenitor identity
-
Pevny L, Placzek M: SOX genes and neural progenitor identity. Curr Opin Neurobiol 2005;15:7-13.
-
(2005)
Curr Opin Neurobiol
, vol.15
, pp. 7-13
-
-
Pevny, L.1
Placzek, M.2
-
21
-
-
1442360429
-
SOX3 is required during the formation of the hypothalamo-pituitary axis
-
Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R: SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet 2004;36:247-255.
-
(2004)
Nat Genet
, vol.36
, pp. 247-255
-
-
Rizzoti, K.1
Brunelli, S.2
Carmignac, D.3
Thomas, P.Q.4
Robinson, I.C.5
Lovell-Badge, R.6
-
22
-
-
0242664116
-
Sox3 is required for gonadal function, but not sex determination, in males and females
-
Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL: Sox3 is required for gonadal function, but not sex determination, in males and females. Mol Cell Biol 2003;23:8084-8091.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8084-8091
-
-
Weiss, J.1
Meeks, J.J.2
Hurley, L.3
Raverot, G.4
Frassetto, A.5
Jameson, J.L.6
-
23
-
-
0029971076
-
Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings
-
Hamel BC, Smits A P, Otten BJ, van den HB, Ropers HH, Mariman EC: Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. Am J Med Genet 1996;64:35-41.
-
(1996)
Am J Med Genet
, vol.64
, pp. 35-41
-
-
Hamel, B.C.1
Smits, A.P.2
Otten, B.J.3
van den, H.B.4
Ropers, H.H.5
Mariman, E.C.6
-
24
-
-
0345019020
-
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
-
Lagerstrom-Fermer M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U: X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Am J Hum Genet 1997; 60:910-916.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 910-916
-
-
Lagerstrom-Fermer, M.1
Sundvall, M.2
Johnsen, E.3
Warne, G.L.4
Forrest, S.M.5
Zajac, J.D.6
Rickards, A.7
Ravine, D.8
Landegren, U.9
Pettersson, U.10
-
25
-
-
0034667325
-
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
-
Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I: Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics 2000;69: 174-181.
-
(2000)
Genomics
, vol.69
, pp. 174-181
-
-
Hol, F.A.1
Schepens, M.T.2
van Beersum, S.E.3
Redolfi, E.4
Affer, M.5
Vezzoni, P.6
Hamel, B.C.7
Karnes, P.S.8
Mariman, E.C.9
Zucchi, I.10
-
26
-
-
0036212222
-
Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism
-
Solomon NM, Nouri S, Warne GL, Lagerstrom-Fermer M, Forrest SM, Thomas PQ: Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. Genomics 2002;79:553-559.
-
(2002)
Genomics
, vol.79
, pp. 553-559
-
-
Solomon, N.M.1
Nouri, S.2
Warne, G.L.3
Lagerstrom-Fermer, M.4
Forrest, S.M.5
Thomas, P.Q.6
-
27
-
-
20244386714
-
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
-
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al Zyoud M, El Ali M et al: Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 2005;76:833-849.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 833-849
-
-
Woods, K.S.1
Cundall, M.2
Turton, J.3
Rizotti, K.4
Mehta, A.5
Palmer, R.6
Wong, J.7
Chong, W.K.8
Al Zyoud, M.9
El Ali, M.10
-
28
-
-
19544394236
-
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
-
Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S: A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 2004;13:2351-2359.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2351-2359
-
-
Albrecht, A.N.1
Kornak, U.2
Boddrich, A.3
Suring, K.4
Robinson, P.N.5
Stiege, A.C.6
Lurz, R.7
Stricker, S.8
Wanker, E.E.9
Mundlos, S.10
-
29
-
-
0032779254
-
Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pregastrulation to early somite stages
-
Wood HB, Episkopou V: Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pregastrulation to early somite stages. Mech Dev 1999; 86:197-201.
-
(1999)
Mech Dev
, vol.86
, pp. 197-201
-
-
Wood, H.B.1
Episkopou, V.2
-
30
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
Williamson KA, Hever AM, et al: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 2006;15:1413-1422.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1413-1422
-
-
Williamson, K.A.1
Hever, A.M.2
-
31
-
-
0037227099
-
Multipotent cell lineages in early mouse development depend on SOX2 function
-
Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N, Lovell-Badge R: Multipotent cell lineages in early mouse development depend on SOX2 function. Genes Dev 2003;17:126-140.
-
(2003)
Genes Dev
, vol.17
, pp. 126-140
-
-
Avilion, A.A.1
Nicolis, S.K.2
Pevny, L.H.3
Perez, L.4
Vivian, N.5
Lovell-Badge, R.6
-
32
-
-
33745147915
-
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
-
Taranova O V, Magness ST, Fagan BM, Wu Y, Surzenko N, Hutton SR, Pevny LH: SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Genes Dev 2006;20:1187-1202.
-
(2006)
Genes Dev
, vol.20
, pp. 1187-1202
-
-
Taranova, O.V.1
Magness, S.T.2
Fagan, B.M.3
Wu, Y.4
Surzenko, N.5
Hutton, S.R.6
Pevny, L.H.7
-
33
-
-
33748298959
-
Mutations withinSox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
-
Kelberman D, Rizzoti K, Avilion A et al: Mutations withinSox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 2006;116:2442-2455.
-
(2006)
J Clin Invest
, vol.116
, pp. 2442-2455
-
-
Kelberman, D.1
Rizzoti, K.2
Avilion, A.3
-
34
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
Fantes J, Ragge NK, Lynch SA, et al: Mutations in SOX2 cause anophthalmia. Nat Genet 2003;33:461-463.
-
(2003)
Nat Genet
, vol.33
, pp. 461-463
-
-
Fantes, J.1
Ragge, N.K.2
Lynch, S.A.3
-
36
-
-
25644456873
-
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
-
Hagstrom SA, Pauer GJT, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI: SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet 2005;138A:95-98.
-
(2005)
Am J Med Genet
, vol.138 A
, pp. 95-98
-
-
Hagstrom, S.A.1
Pauer, G.J.T.2
Reid, J.3
Simpson, E.4
Crowe, S.5
Maumenee, I.H.6
Traboulsi, E.I.7
-
37
-
-
28644438697
-
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene
-
Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL: Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin Genet 2005;68:564-566.
-
(2005)
Clin Genet
, vol.68
, pp. 564-566
-
-
Zenteno, J.C.1
Gascon-Guzman, G.2
Tovilla-Canales, J.L.3
-
38
-
-
33947716499
-
Hypogonadotropic hypog-onadism in an adult female with a heterozygous hypomorphic mutation of SOX2
-
Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T: Hypogonadotropic hypog-onadism in an adult female with a heterozygous hypomorphic mutation of SOX2. Eur J Endocrinol 2007;156:167-171.
-
(2007)
Eur J Endocrinol
, vol.156
, pp. 167-171
-
-
Sato, N.1
Kamachi, Y.2
Kondoh, H.3
Shima, Y.4
Morohashi, K.5
Horikawa, R.6
Ogata, T.7
-
39
-
-
33846811551
-
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement
-
Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P: Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet [A] 2007;143:289-291.
-
(2007)
Am J Med Genet [A]
, vol.143
, pp. 289-291
-
-
Chassaing, N.1
Gilbert-Dussardier, B.2
Nicot, F.3
Fermeaux, V.4
Encha-Razavi, F.5
Fiorenza, M.6
Toutain, A.7
Calvas, P.8
-
40
-
-
35148812787
-
SOX2 anophthalmia syndrome: Twelve new cases demonstrating broader phenotype and high frequency of large gene deletions
-
Bakrania P, Robinson DO, Bunyan DJ et al: SOX2 anophthalmia syndrome: twelve new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007;91,1471-1476
-
(2007)
Br J Ophthalmol
, vol.91
, pp. 1471-1476
-
-
Bakrania, P.1
Robinson, D.O.2
Bunyan, D.J.3
-
41
-
-
7944225563
-
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2
-
Guichet A, Triau S, Lepinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D: Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat Diagn 2004;24:828-832.
-
(2004)
Prenat Diagn
, vol.24
, pp. 828-832
-
-
Guichet, A.1
Triau, S.2
Lepinard, C.3
Esculapavit, C.4
Biquard, F.5
Descamps, P.6
Encha-Razavi, F.7
Bonneau, D.8
-
42
-
-
33644857728
-
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
-
Faivre L, Williamson KA, Faber V et al: Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet [A] 2006;140:636-639.
-
(2006)
Am J Med Genet [A]
, vol.140
, pp. 636-639
-
-
Faivre, L.1
Williamson, K.A.2
Faber, V.3
-
43
-
-
43249119819
-
SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development
-
in press
-
Kelberman D, de Castro SC, Huang S et al: SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab 2008;in press.
-
(2008)
J Clin Endocrinol Metab
-
-
Kelberman, D.1
de Castro, S.C.2
Huang, S.3
-
44
-
-
0028965157
-
P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1
-
Bach I, Rhodes SJ, Pearse RV, Heinzel T, Gloss B, Scully KM, Sawchenko PE, Rosenfeld MG: P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1. Proc Natl Acad Sci USA 1995;92:2720-2724.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2720-2724
-
-
Bach, I.1
Rhodes, S.J.2
Pearse, R.V.3
Heinzel, T.4
Gloss, B.5
Scully, K.M.6
Sawchenko, P.E.7
Rosenfeld, M.G.8
-
45
-
-
0033916125
-
Genomic structure, chromosomal localization, and expression pattern of the human LIM-Homeobox3 (LHX 3) gene
-
Schmitt S, Biason-Lauber A, Betts D, Schoenle EJ: Genomic structure, chromosomal localization, and expression pattern of the human LIM-Homeobox3 (LHX 3) gene. Biochem Biophys Res Commun 2000;274:49-56.
-
(2000)
Biochem Biophys Res Commun
, vol.274
, pp. 49-56
-
-
Schmitt, S.1
Biason-Lauber, A.2
Betts, D.3
Schoenle, E.J.4
-
46
-
-
0028929541
-
Expression pattern of the murine lim class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues
-
Zhadanov AB, Bertuzzi S, Taira M, Dawid IB, Westphal H: Expression pattern of the murine lim class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues. Dev Dynam 1995;202:354-364.
-
(1995)
Dev Dynam
, vol.202
, pp. 354-364
-
-
Zhadanov, A.B.1
Bertuzzi, S.2
Taira, M.3
Dawid, I.B.4
Westphal, H.5
-
47
-
-
9344229266
-
Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
-
Sheng HZ, Zhadanov AB, Mosinger B, Fujii T, Bertuzzi S, Grinberg A, Lee EJ, Huang SP, Mahon KA, Westphal H: Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 1996;272:1004-1007.
-
(1996)
Science
, vol.272
, pp. 1004-1007
-
-
Sheng, H.Z.1
Zhadanov, A.B.2
Mosinger, B.3
Fujii, T.4
Bertuzzi, S.5
Grinberg, A.6
Lee, E.J.7
Huang, S.P.8
Mahon, K.A.9
Westphal, H.10
-
48
-
-
34548813186
-
Pituitary organogenesis controlled by LIM-homeobox genes
-
Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA, Westphal H: Pituitary organogenesis controlled by LIM-homeobox genes. Dev Biol 1997; 186, B132.
-
(1997)
Dev Biol
, vol.186
-
-
Sheng, H.Z.1
Moriyama, K.2
Yamashita, T.3
Li, H.4
Potter, S.S.5
Mahon, K.A.6
Westphal, H.7
-
49
-
-
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;25:182-186.
-
(2000)
Nat Genet
, vol.25
, pp. 182-186
-
-
Netchine, I.1
Sobrier, M.L.2
Krude, H.3
-
50
-
-
0035819896
-
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes
-
Sloop K W, 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;265:61-69.
-
(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
-
51
-
-
33644823897
-
A novel LHX3 mutation presenting as combined pituitary hormonal deficiency
-
Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ: A novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J Clin Endocrinol Metab 2006; 91:747-753.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 747-753
-
-
Bhangoo, A.P.1
Hunter, C.S.2
Savage, J.J.3
Anhalt, H.4
Pavlakis, S.5
Walvoord, E.C.6
Ten, S.7
Rhodes, S.J.8
-
52
-
-
10244235398
-
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development
-
Sobrier ML, Attie-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S: Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expression Patterns 2004;5:279-284.
-
(2004)
Gene Expression Patterns
, vol.5
, pp. 279-284
-
-
Sobrier, M.L.1
Attie-Bitach, T.2
Netchine, I.3
Encha-Razavi, F.4
Vekemans, M.5
Amselem, S.6
-
53
-
-
34249855378
-
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation
-
Pfaeffle RW, Savage JJ, Hunter CS et al: Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab 2007; 92:1909-1919.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1909-1919
-
-
Pfaeffle, R.W.1
Savage, J.J.2
Hunter, C.S.3
-
54
-
-
0030695926
-
Multistep control of pituitary organogenesis
-
Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA, Westphal H: Multistep control of pituitary organogenesis. Science 1997;278:1809-1812.
-
(1997)
Science
, vol.278
, pp. 1809-1812
-
-
Sheng, H.Z.1
Moriyama, K.2
Yamashita, T.3
Li, H.4
Potter, S.S.5
Mahon, K.A.6
Westphal, H.7
-
55
-
-
0034760533
-
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
-
Machinis K, Pantel J, Netchine I et al: Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 2001; 69:961-968.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 961-968
-
-
Machinis, K.1
Pantel, J.2
Netchine, I.3
-
56
-
-
34548696653
-
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
-
Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K: 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. Endocr J 2007;54:637-641.
-
(2007)
Endocr J
, vol.54
, pp. 637-641
-
-
Tajima, T.1
Hattori, T.2
Nakajima, T.3
Okuhara, K.4
Tsubaki, J.5
Fujieda, K.6
-
57
-
-
10544256602
-
Pituitary lineage determination by the Prophet of Pit-1 homeo-domain factor defective in Ames dwarfism
-
Sornson M W, Wu W, Dasen JS et al: Pituitary lineage determination by the Prophet of Pit-1 homeo-domain factor defective in Ames dwarfism. Nature 1996;384:327-333.
-
(1996)
Nature
, vol.384
, pp. 327-333
-
-
Sornson, M.W.1
Wu, W.2
Dasen, J.S.3
-
58
-
-
0030025955
-
Anterior pituitary cells defective in the cell-autonomous factor, df, undergo cell lineage specification but not expansion
-
Gage PJ, Roller ML, Saunders TL, Scarlett LM, Camper SA: Anterior pituitary cells defective in the cell-autonomous factor, df, undergo cell lineage specification but not expansion. Development 1996; 122:151-160.
-
(1996)
Development
, vol.122
, pp. 151-160
-
-
Gage, P.J.1
Roller, M.L.2
Saunders, T.L.3
Scarlett, L.M.4
Camper, S.A.5
-
59
-
-
0027196124
-
Gonadotropin secretion, synthesis, and gene expression in human growth hormone transgenic mice and in Ames dwarf mice
-
Tang K, Bartke A, Gardiner CS, Wagner TE, Yun JS: Gonadotropin secretion, synthesis, and gene expression in human growth hormone transgenic mice and in Ames dwarf mice. Endocrinology 1993;132: 2518-2524.
-
(1993)
Endocrinology
, vol.132
, pp. 2518-2524
-
-
Tang, K.1
Bartke, A.2
Gardiner, C.S.3
Wagner, T.E.4
Yun, J.S.5
-
60
-
-
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;18:147-149.
-
(1998)
Nat Genet
, vol.18
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
-
61
-
-
0033343739
-
Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency
-
Deladoey J, Fluck C, Buyukgebiz A, Kuhlmann BV, Eble A, Hindmarsh PC, Wu W, Mullis PE: 'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1999;84:1645-1650.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1645-1650
-
-
Deladoey, J.1
Fluck, C.2
Buyukgebiz, A.3
Kuhlmann, B.V.4
Eble, A.5
Hindmarsh, P.C.6
Wu, W.7
Mullis, P.E.8
-
62
-
-
7844241236
-
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
-
Cogan JD, Wu W, Phillips JA III, Arnhold IJ, Agapito A, Fofanova O V, Osorio MG, Bircan I, Moreno A, Mendonca BB: The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 1998;83:3346-3349.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3346-3349
-
-
Cogan, J.D.1
Wu, W.2
Phillips III, J.A.3
Arnhold, I.J.4
Agapito, A.5
Fofanova, O.V.6
Osorio, M.G.7
Bircan, I.8
Moreno, A.9
Mendonca, B.B.10
-
63
-
-
22044451892
-
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
-
Turton JPG, Mehta A, Raza J et al: Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clin Endocrinol 2005;63: 10-18.
-
(2005)
Clin Endocrinol
, vol.63
, pp. 10-18
-
-
Turton, J.P.G.1
Mehta, A.2
Raza, J.3
-
64
-
-
0032561414
-
Human Prop-1:cloning, mapping, genomic structure: Mutations in familial combined pituitary hormone deficiency
-
Duquesnoy P, Roy A, Dastot F, et al: Human Prop-1:cloning, mapping, genomic structure: mutations in familial combined pituitary hormone deficiency. FEBS Lett 1998;437:216-220.
-
(1998)
FEBS Lett
, vol.437
, pp. 216-220
-
-
Duquesnoy, P.1
Roy, A.2
Dastot, F.3
-
65
-
-
8744315604
-
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: Phenotypic and in vitro functional studies
-
Reynaud R, Chadli-Chaieb M, Vallette-Kasic S, Barlier A, Sarles J, Pellegrini-Bouiller I, Enjalbert A, Chaieb L, Brue T: A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. J Clin Endocrinol Metab 2004;89:5779-5786.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5779-5786
-
-
Reynaud, R.1
Chadli-Chaieb, M.2
Vallette-Kasic, S.3
Barlier, A.4
Sarles, J.5
Pellegrini-Bouiller, I.6
Enjalbert, A.7
Chaieb, L.8
Brue, T.9
-
66
-
-
0034458085
-
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodo-main of PROP-1
-
Osorio MG, Kopp P, Marui S, Latronico AC, Mendonca BB, Arnhold IJ: Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodo-main of PROP-1. J Clin Endocrinol Metab 2000;85: 2779-2785.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 2779-2785
-
-
Osorio, M.G.1
Kopp, P.2
Marui, S.3
Latronico, A.C.4
Mendonca, B.B.5
Arnhold, I.J.6
-
67
-
-
26244452186
-
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
-
Lebl J, Vosahlo J, Pfaeffle RW et al: Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. Eur J Endocrinol 2005;153:389-396.
-
(2005)
Eur J Endocrinol
, vol.153
, pp. 389-396
-
-
Lebl, J.1
Vosahlo, J.2
Pfaeffle, R.W.3
-
68
-
-
23844553744
-
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain
-
Reynaud R, Barlier A, Vallette-Kasic S, Saveanu A, Guillet M P, Simonin G, Enjalbert A, Valensi P, Brue T: An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. J Clin Endocrinol Metab 2005;90:4880-4887.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4880-4887
-
-
Reynaud, R.1
Barlier, A.2
Vallette-Kasic, S.3
Saveanu, A.4
Guillet, M.P.5
Simonin, G.6
Enjalbert, A.7
Valensi, P.8
Brue, T.9
-
69
-
-
0036360499
-
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty
-
Arroyo A, Pernasetti F, Vasilyev VV, Amato P, Yen SS, Mellon PL: A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. Clin Endocrinol (Oxf) 2002;57:283-291.
-
(2002)
Clin Endocrinol (Oxf)
, vol.57
, pp. 283-291
-
-
Arroyo, A.1
Pernasetti, F.2
Vasilyev, V.V.3
Amato, P.4
Yen, S.S.5
Mellon, P.L.6
-
70
-
-
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, Eble A, Marti U, Wu W, Mullis PE: 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;83:3727-3734.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3727-3734
-
-
Fluck, C.1
Deladoey, J.2
Rutishauser, K.3
Eble, A.4
Marti, U.5
Wu, W.6
Mullis, P.E.7
-
71
-
-
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, Barlier 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: 4529-4535.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4529-4535
-
-
Vallette-Kasic, S.1
Barlier, A.2
Teinturier, C.3
-
72
-
-
0032989717
-
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
-
Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ: Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J Clin Endocrinol Metab 1999;84:942-945.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 942-945
-
-
Mendonca, B.B.1
Osorio, M.G.2
Latronico, A.C.3
Estefan, V.4
Lo, L.S.5
Arnhold, I.J.6
-
73
-
-
0033794762
-
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene
-
Asteria C, Oliveira JH, Abucham J, Beck-Peccoz P: Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene. Eur J Endocrinol 2000;143:347-352.
-
(2000)
Eur J Endocrinol
, vol.143
, pp. 347-352
-
-
Asteria, C.1
Oliveira, J.H.2
Abucham, J.3
Beck-Peccoz, P.4
-
74
-
-
0034455463
-
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene
-
Pernasetti F, Toledo S P, Vasilyev V V, Hayashida CY, Cogan JD, Ferrari C, Lourenco DM, Mellon PL: Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. J Clin Endocrinol Metab 2000;85:390-397.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 390-397
-
-
Pernasetti, F.1
Toledo, S.P.2
Vasilyev, V.V.3
Hayashida, C.Y.4
Cogan, J.D.5
Ferrari, C.6
Lourenco, D.M.7
Mellon, P.L.8
-
75
-
-
0034853603
-
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation
-
Riepe FG, Partsch CJ, Blankenstein O, Monig H, Pfaffle RW, Sippell WG: Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 2001;86:4353-4357.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4353-4357
-
-
Riepe, F.G.1
Partsch, C.J.2
Blankenstein, O.3
Monig, H.4
Pfaffle, R.W.5
Sippell, W.G.6
-
76
-
-
6344282311
-
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: A longitudinal analysis
-
Bottner A, Keller E, Kratzsch J, Stobbe H, Weigel JF, Keller A, Hirsch W, Kiess W, Blum WF, Pfaffle RW: PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab 2004;89:5256-5265.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5256-5265
-
-
Bottner, A.1
Keller, E.2
Kratzsch, J.3
Stobbe, H.4
Weigel, J.F.5
Keller, A.6
Hirsch, W.7
Kiess, W.8
Blum, W.F.9
Pfaffle, R.W.10
-
77
-
-
0034485839
-
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
-
Agarwal G, Bhatia V, Cook S, Thomas PQ: Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. J Clin Endocrinol Metab 2000;85:4556-4561.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 4556-4561
-
-
Agarwal, G.1
Bhatia, V.2
Cook, S.3
Thomas, P.Q.4
-
78
-
-
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, Vorontsov A, Vladimirova V, Dedov I, Peterkova V, Yamashita S: 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;174:555-559.
-
(2000)
AJR Am J Roentgenol
, vol.174
, pp. 555-559
-
-
Fofanova, O.1
Takamura, N.2
Kinoshita, E.3
Vorontsov, A.4
Vladimirova, V.5
Dedov, I.6
Peterkova, V.7
Yamashita, S.8
-
79
-
-
2442568583
-
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: Pituitary enlargement may originate from the intermediate lobe
-
Voutetakis A, Argyropoulou M, Sertedaki A, Livadas S, Xekouki P, Maniati-Christidi M, Bossis I, Thalassinos N, Patronas N, Dacou-Voutetakis C: Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab 2004;89:2200-2206.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2200-2206
-
-
Voutetakis, A.1
Argyropoulou, M.2
Sertedaki, A.3
Livadas, S.4
Xekouki, P.5
Maniati-Christidi, M.6
Bossis, I.7
Thalassinos, N.8
Patronas, N.9
Dacou-Voutetakis, C.10
-
80
-
-
68149147940
-
-
Parks JS, Brown MR, Baumbach L, et al: Natural history and molecular mechanisms of hypopituitar-ism with large sella turcica. Am Endocrine Soc Meet, New Orleans, 1998, abstr P3-409, p 470.
-
Parks JS, Brown MR, Baumbach L, et al: Natural history and molecular mechanisms of hypopituitar-ism with large sella turcica. Am Endocrine Soc Meet, New Orleans, 1998, abstr P3-409, p 470.
-
-
-
-
81
-
-
0024277966
-
The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein
-
Bodner M, Castrillo JL, Theill LE, Deerinck T, Ellisman M, Karin M: The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein. Cell 1988;55:505-518.
-
(1988)
Cell
, vol.55
, pp. 505-518
-
-
Bodner, M.1
Castrillo, J.L.2
Theill, L.E.3
Deerinck, T.4
Ellisman, M.5
Karin, M.6
-
82
-
-
0035117485
-
POU domain factors in the neuroendocrine system: Lessons from developmental biology provide insights into human disease
-
Andersen B, Rosenfeld MG: POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease. Endocr Rev 2001;22:2-35.
-
(2001)
Endocr Rev
, vol.22
, pp. 2-35
-
-
Andersen, B.1
Rosenfeld, M.G.2
-
83
-
-
0028138679
-
Trans-criptional mechanisms in anterior pituitary cell differentiation
-
Rhodes SJ, DiMattia GE, Rosenfeld MG: Trans-criptional mechanisms in anterior pituitary cell differentiation. Curr Opin Genet Dev 1994;4:709-717.
-
(1994)
Curr Opin Genet Dev
, vol.4
, pp. 709-717
-
-
Rhodes, S.J.1
DiMattia, G.E.2
Rosenfeld, M.G.3
-
84
-
-
0025014024
-
Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
-
Li S, Crenshaw EB III, 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; 347:528-533.
-
(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
-
85
-
-
0028126819
-
Pit-1 determines cell types during development of the anterior pituitary gland: A model for transcriptional regulation of cell phenotypes in mammalian organogenesis
-
Andersen B, Rosenfeld MG: Pit-1 determines cell types during development of the anterior pituitary gland: a model for transcriptional regulation of cell phenotypes in mammalian organogenesis. J Biol Chem 1994;269:29335-29338.
-
(1994)
J Biol Chem
, vol.269
, pp. 29335-29338
-
-
Andersen, B.1
Rosenfeld, M.G.2
-
86
-
-
0027174997
-
A tissue-specific enhancer confers Pit-1-dependent morphogen inducibility and autoregulation on the pit-1 gene
-
Rhodes SJ, Chen R, DiMattia GE, Scully KM, Kalla KA, Lin SC, Yu VC, Rosenfeld MG: A tissue-specific enhancer confers Pit-1-dependent morphogen inducibility and autoregulation on the pit-1 gene. Genes Dev 1993;7:913-932.
-
(1993)
Genes Dev
, vol.7
, pp. 913-932
-
-
Rhodes, S.J.1
Chen, R.2
DiMattia, G.E.3
Scully, K.M.4
Kalla, K.A.5
Lin, S.C.6
Yu, V.C.7
Rosenfeld, M.G.8
-
87
-
-
0026849691
-
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene
-
Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H: Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet 1992;1:56-58.
-
(1992)
Nat Genet
, vol.1
, pp. 56-58
-
-
Tatsumi, K.1
Miyai, K.2
Notomi, T.3
Kaibe, K.4
Amino, N.5
Mizuno, Y.6
Kohno, H.7
-
88
-
-
0028980503
-
A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: Clinical and molecular correlates
-
Cohen LE, Wondisford FE, Salvatoni A, Maghnie M, Brucker-Davis F, Weintraub BD, Radovick S: A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. J Clin Endocrinol Metab 1995;80:679-684.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 679-684
-
-
Cohen, L.E.1
Wondisford, F.E.2
Salvatoni, A.3
Maghnie, M.4
Brucker-Davis, F.5
Weintraub, B.D.6
Radovick, S.7
-
89
-
-
0026767630
-
A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
-
Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE: A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 1992;257:1115-1118.
-
(1992)
Science
, vol.257
, pp. 1115-1118
-
-
Radovick, S.1
Nations, M.2
Du, Y.3
Berg, L.A.4
Weintraub, B.D.5
Wondisford, F.E.6
-
90
-
-
0037868325
-
The R271W mutant form of Pit-1 does not act as a dominant inhibitor of Pit-1 action to activate the promoters of GH and prolactin genes
-
Kishimoto M, Okimura Y, Fumoto M, Iguchi G, Iida K, Kaji H, Chihara K: The R271W mutant form of Pit-1 does not act as a dominant inhibitor of Pit-1 action to activate the promoters of GH and prolactin genes. Eur J Endocrinol 2003;148:619-625.
-
(2003)
Eur J Endocrinol
, vol.148
, pp. 619-625
-
-
Kishimoto, M.1
Okimura, Y.2
Fumoto, M.3
Iguchi, G.4
Iida, K.5
Kaji, H.6
Chihara, K.7
-
91
-
-
0026667857
-
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia
-
Pfaffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van-der-Nat H, Van-den-Brande JL, Rosenfeld MG, Ingraham HA: Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 1992;257:1118-1121.
-
(1992)
Science
, vol.257
, pp. 1118-1121
-
-
Pfaffle, R.W.1
DiMattia, G.E.2
Parks, J.S.3
Brown, M.R.4
Wit, J.M.5
Jansen, M.6
Van-der-Nat, H.7
Van-den-Brande, J.L.8
Rosenfeld, M.G.9
Ingraham, H.A.10
-
92
-
-
0031300673
-
GH and TSH deficiency
-
Pfaffle RW, Martinez R, Kim C, Frisch H, Lebl J, Otten B, Heimann,G: GH and TSH deficiency. Exp Clin Endocrinol Diabetes 1997;105(suppl 4):1-5.
-
(1997)
Exp Clin Endocrinol Diabetes
, vol.105
, Issue.SUPPL. 4
, pp. 1-5
-
-
Pfaffle, R.W.1
Martinez, R.2
Kim, C.3
Frisch, H.4
Lebl, J.5
Otten, B.6
Heimann, G.7
-
93
-
-
23844487385
-
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency
-
Turton JPG, Reynaud R, Mehta A et al: Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab 2005;90:4762-4770.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4762-4770
-
-
Turton, J.P.G.1
Reynaud, R.2
Mehta, A.3
-
94
-
-
0036668183
-
Molecular basis of combined pituitary hormone deficiencies
-
Cohen LE, Radovick S: Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 2002; 23:431-442.
-
(2002)
Endocr Rev
, vol.23
, pp. 431-442
-
-
Cohen, L.E.1
Radovick, S.2
|