-
1
-
-
0032561414
-
Human Prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
-
Duquesnoy, P., Roy, A., Dastot, F., Ghali, I., Teinturier, C., Netchine, I., Cacheux, V., Hafez, M., Salah, N., Chaussain, J.L., Goossens, M., Bougneres, P. & Amselem, S. (1998) Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. FEBS Letters, 437, 216-220.
-
(1998)
FEBS Letters
, vol.437
, pp. 216-220
-
-
Duquesnoy, P.1
Roy, A.2
Dastot, F.3
Ghali, I.4
Teinturier, C.5
Netchine, I.6
Cacheux, V.7
Hafez, M.8
Salah, N.9
Chaussain, J.L.10
Goossens, M.11
Bougneres, P.12
Amselem, S.13
-
2
-
-
0242321226
-
Transcriptional control during mammalian anterior pituitary development
-
Savage, J.J., Yaden, B.C., Kiratipranon, P. & Rhodes, S.J. (2003) Transcriptional control during mammalian anterior pituitary development. Gene, 319, 1-19.
-
(2003)
Gene
, vol.319
, pp. 1-19
-
-
Savage, J.J.1
Yaden, B.C.2
Kiratipranon, P.3
Rhodes, S.J.4
-
3
-
-
10544256602
-
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
-
Sornson, M.W., Wu, W., Dasen, J.S., Flynn, S.E., Norman, D.J., O'Connell, S.M., Gukovsky, I., Carriere, C., Ryan, A.K., Miller, A.P., Zuo, L., Gleiberman, A.S., Andersen, B., Beamer, W.G. & Rosenfeld, M.G. (1996) Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism. Nature, 384, 327-333.
-
(1996)
Nature
, vol.384
, pp. 327-333
-
-
Sornson, M.W.1
Wu, W.2
Dasen, J.S.3
Flynn, S.E.4
Norman, D.J.5
O'Connell, S.M.6
Gukovsky, I.7
Carriere, C.8
Ryan, A.K.9
Miller, A.P.10
Zuo, L.11
Gleiberman, A.S.12
Andersen, B.13
Beamer, W.G.14
Rosenfeld, M.G.15
-
4
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
Wu, W., Cogan, J.D., Pfaffle, R.W., Dasen, J.S., Frisch, H., O'Connell, S.M., Flynn, S.E., Brown, M.R., Mullis, P.E., Parks, J.S., Phillips, J.A. 3rd & Rosenfeld, M.G. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genetics, 18, 147-149.
-
(1998)
Nature Genetics
, vol.18
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
Dasen, J.S.4
Frisch, H.5
O'Connell, S.M.6
Flynn, S.E.7
Brown, M.R.8
Mullis, P.E.9
Parks, J.S.10
Phillips III, J.A.11
Rosenfeld, M.G.12
-
5
-
-
0036423939
-
The spectrum of hypopituitarism caused by PROP1 mutations. Best Practice and Research
-
Mody, S., Brown, M.R. & Parks, J.S. (2002) The spectrum of hypopituitarism caused by PROP1 mutations. Best Practice and Research. Clinical Endocrinology and Metabolism, 16, 421-431.
-
(2002)
Clinical Endocrinology and Metabolism
, vol.16
, pp. 421-431
-
-
Mody, S.1
Brown, M.R.2
Parks, J.S.3
-
6
-
-
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. (2004) Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. Journal of Clinical Endocrinology and Metabolism, 89, 2200-2206.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, 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
-
7
-
-
0036003819
-
Pseudotumor of the pituitary due to PROP-1 deletion
-
Teinturier, C., Vallette, S., Adamsbaum, C., Bendaoud, M., Brue, T. & Bougneres, P.F. (2002) Pseudotumor of the pituitary due to PROP-1 deletion. Journal of Pediatric Endocrinology and Metabolism, 15, 95-101.
-
(2002)
Journal of Pediatric Endocrinology and Metabolism
, vol.15
, pp. 95-101
-
-
Teinturier, C.1
Vallette, S.2
Adamsbaum, C.3
Bendaoud, M.4
Brue, T.5
Bougneres, P.F.6
-
9
-
-
0033343739
-
'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency
-
Deladoey, J., Fluck, C., Buyukgebiz, A., Kuhlmann, B.V., Eble, A., Hindmarsh, P.C., Wu, W. & Mullis, P.E. (1999) 'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 84, 1645-1650.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, 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
-
10
-
-
7844241236
-
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
-
Cogan, J.D., Wu, W., Phillips, J.A. 3rd, Arnhold, I.J., Agapito, A., Fofanova, O.V., Osorio, M.G., Bircan, I., Moreno, A. & Mendonca, B.B. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 83, 3346-3349.
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, 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
-
11
-
-
0036021444
-
Emerging links between initiation of translation and human diseases
-
Kozak, M. (2002) Emerging links between initiation of translation and human diseases. Mammalian Genome, 13, 401-410.
-
(2002)
Mammalian Genome
, vol.13
, pp. 401-410
-
-
Kozak, M.1
-
12
-
-
0030213227
-
Interpreting cDNA sequences: Some insights from studies on translation
-
Kozak, M. (1996) Interpreting cDNA sequences: some insights from studies on translation. Mammalian Genome, 7, 563-574.
-
(1996)
Mammalian Genome
, vol.7
, pp. 563-574
-
-
Kozak, M.1
-
13
-
-
4143051247
-
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations
-
Voutetakis, A., Sertedaki, A., Livadas, S., Maniati-Christidi, M., Mademtzis, I., Bossis, I., Dacou-Voutetakis, C. & Messinis, I.E. (2004) Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations. Fertility and Sterility, 82, 454-457.
-
(2004)
Fertility and Sterility
, vol.82
, pp. 454-457
-
-
Voutetakis, A.1
Sertedaki, A.2
Livadas, S.3
Maniati-Christidi, M.4
Mademtzis, I.5
Bossis, I.6
Dacou-Voutetakis, C.7
Messinis, I.E.8
-
14
-
-
0019490088
-
Growth hormone and prolactin synthesis in normal and homozygous Snell and Ames dwarf mice
-
Slabaugh, M.B., Lieberman, M.E., Rutledge, J.J. & Gorski, J. (1981) Growth hormone and prolactin synthesis in normal and homozygous Snell and Ames dwarf mice. Endocrinology, 109, 1040-1046.
-
(1981)
Endocrinology
, vol.109
, pp. 1040-1046
-
-
Slabaugh, M.B.1
Lieberman, M.E.2
Rutledge, J.J.3
Gorski, J.4
-
15
-
-
0030025955
-
Anterior pituitary cells defective in the cell-autonomous factor, df, undergo cell lineage specification but not expansion
-
Gage, P.J., Roller, M.L., Saunders, T.L., Scarlett, L.M. & Camper, S.A. (1996) Anterior pituitary cells defective in the cell-autonomous factor, df, undergo cell lineage specification but not expansion. Development, 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
-
16
-
-
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, C.Y., Cogan, J.D., Ferrari, C., Lourenco, D.M. & Mellon, P.L. (2000) 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. Journal of Clinical Endocrinology and Metabolism, 85, 390-397.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, 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
-
17
-
-
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, P.E. (1998) 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). Journal of Clinical Endocrinology and Metabolism, 83, 3727-3734.
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, 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
-
18
-
-
0036254705
-
Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects
-
Crone, J., Pfaffle, R., Stobbe, H., Prayer, D., Gomez, I. & Frisch, H. (2002) Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. Hormone Research, 57, 120-126.
-
(2002)
Hormone Research
, vol.57
, pp. 120-126
-
-
Crone, J.1
Pfaffle, R.2
Stobbe, H.3
Prayer, D.4
Gomez, I.5
Frisch, H.6
-
19
-
-
23244433749
-
Growth hormone deficiency and combined pituitary hormone deficiency: Does the genotype matter?
-
Dattani, M.T. (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clinical Endocrinology, 63, 121-130.
-
(2005)
Clinical Endocrinology
, vol.63
, pp. 121-130
-
-
Dattani, M.T.1
-
20
-
-
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, J.F., Keller, A., Hirsch, W., Kiess, W., Blum, W.F. & Pfaffle, R.W. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. Journal of Clinical Endocrinology and Metabolism, 89, 5256-5265.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, 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
-
21
-
-
0034485839
-
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
-
Agarwal, G., Bhatia, V., Cook, S. & Thomas, P.Q. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. Journal of Clinical Endocrinology and Metabolism, 85, 4556-4561.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 4556-4561
-
-
Agarwal, G.1
Bhatia, V.2
Cook, S.3
Thomas, P.Q.4
-
22
-
-
7844222462
-
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency
-
Fofanova, O., Takamura, N., Kinoshita, E., Parks, J.S., Brown, M.R., Peterkova, V.A., Evgrafov, O.V., Goncharov, N.P., Bulatov, A.A., Dedov, I.I. & Yamashita, S. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 83, 2601-2604.
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, vol.83
, pp. 2601-2604
-
-
Fofanova, O.1
Takamura, N.2
Kinoshita, E.3
Parks, J.S.4
Brown, M.R.5
Peterkova, V.A.6
Evgrafov, O.V.7
Goncharov, N.P.8
Bulatov, A.A.9
Dedov, I.I.10
Yamashita, S.11
-
23
-
-
0034853603
-
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation
-
Riepe, F.G., Partsch, C.J., Blankenstein, O., Monig, H., Pfaffle, R.W. & Sippell, W.G. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. Journal of Clinical Endocrinology and Metabolism, 86, 4353-4357.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, 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
-
24
-
-
9144234764
-
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency
-
Tatsumi, K.I., Kikuchi, K., Tsumura, K. & Amino, N. (2004) A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. Clinical Endocrinology, 61, 635-640.
-
(2004)
Clinical Endocrinology
, vol.61
, pp. 635-640
-
-
Tatsumi, K.I.1
Kikuchi, K.2
Tsumura, K.3
Amino, N.4
-
25
-
-
0041630715
-
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency
-
Paracchini, R., Giordano, M., Corrias, A., Mellone, S., Matarazzo, P., Bellone, J., Momigliano-Richiardi, P. & Bona, G. (2003) Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. Clinical Genetics, 64, 142-147.
-
(2003)
Clinical Genetics
, vol.64
, pp. 142-147
-
-
Paracchini, R.1
Giordano, M.2
Corrias, A.3
Mellone, S.4
Matarazzo, P.5
Bellone, J.6
Momigliano-Richiardi, P.7
Bona, G.8
-
26
-
-
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., Diaz, A., Manavela, M., Berthezene, F., Bouchard, P., Chaussain, J.L., Brauner, R., Pellegrini-Bouiller, I., Jaquet, P., Enjalbert, A. & Brue, T. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. Journal of Clinical Endocrinology and Metabolism, 86, 4529-4535.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 4529-4535
-
-
Vallette-Kasic, S.1
Barlier, A.2
Teinturier, C.3
Diaz, A.4
Manavela, M.5
Berthezene, F.6
Bouchard, P.7
Chaussain, J.L.8
Brauner, R.9
Pellegrini-Bouiller, I.10
Jaquet, P.11
Enjalbert, A.12
Brue, T.13
-
27
-
-
1842579537
-
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X)
-
Voutetakis, A., Maniati-Christidi, M., Kanaka-Gantenbein, C., Dracopoulou, M., Argyropoulou, M., Livadas, S., Dacou-Voutetakis, C. & Sertedaki, A. (2004) Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). European Journal of Endocrinology, 150, 257-264.
-
(2004)
European Journal of Endocrinology
, vol.150
, pp. 257-264
-
-
Voutetakis, A.1
Maniati-Christidi, M.2
Kanaka-Gantenbein, C.3
Dracopoulou, M.4
Argyropoulou, M.5
Livadas, S.6
Dacou-Voutetakis, C.7
Sertedaki, A.8
-
28
-
-
0034458085
-
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1
-
Osorio, M.G., Kopp, P., Marui, S., Latronico, A.C., Mendonca, B.B. & Arnhold, I.J. (2000) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. Journal of Clinical Endocrinology and Metabolism, 85, 2779-2785.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, 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
-
29
-
-
0037241838
-
Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay
-
Vieira, T.C., Dias da Silva, M.R., Cerutti, J.M., Brunner, E., Borges, M., Arnaldi, L.T., Kopp, P. & Abucham, J. (2003) Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. Journal of Clinical Endocrinology and Metabolism, 88, 38-44.
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, pp. 38-44
-
-
Vieira, T.C.1
Dias Da Silva, M.R.2
Cerutti, J.M.3
Brunner, E.4
Borges, M.5
Arnaldi, L.T.6
Kopp, P.7
Abucham, J.8
-
30
-
-
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. (2005) An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. Journal of Clinical Endocrinology and Metabolism, 90, 4880-4887.
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, 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
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