-
1
-
-
0035992791
-
Genetic defects in the development and function of the anterior pituitary gland
-
Cushman LJ, Showalter AD, Rhodes SJ. Genetic defects in the development and function of the anterior pituitary gland. Ann Med 2002; 34: 179-191.
-
(2002)
Ann Med
, vol.34
, pp. 179-191
-
-
Cushman, L.J.1
Showalter, A.D.2
Rhodes, S.J.3
-
2
-
-
14544308775
-
Pituitary hormone deficiencies due to transcription factor gene alterations
-
Reynaud R, Saveanu A, Barlie A, Enjalbert A, Brue T. Pituitary hormone deficiencies due to transcription factor gene alterations. Growth Horm IGF Res 2004; 14: 442-448.
-
(2004)
Growth Horm IGF Res
, vol.14
, pp. 442-448
-
-
Reynaud, R.1
Saveanu, A.2
Barlie, A.3
Enjalbert, A.4
Brue, T.5
-
3
-
-
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
-
4
-
-
0033305649
-
Heritable disorders of pituitary development
-
Parks JS, Brown MR, Hurley DL, Phelp CJ, Wajnrajch MP. Heritable disorders of pituitary development. J Clin Endocrinol Metab 1999; 84: 4362-4370.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4362-4370
-
-
Parks, J.S.1
Brown, M.R.2
Hurley, D.L.3
Phelp, C.J.4
Wajnrajch, M.P.5
-
5
-
-
13444254372
-
Mutation analysis of POUF1, PROP1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia
-
Rainbow LA, Rees SA, Shaikh MG, Shaw N, Colet T, Barrett TG, Kirk JMW. Mutation analysis of POUF1, PROP1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf) 2005; 62: 163-168.
-
(2005)
Clin Endocrinol (Oxf)
, vol.62
, pp. 163-168
-
-
Rainbow, L.A.1
Rees, S.A.2
Shaikh, M.G.3
Shaw, N.4
Colet, T.5
Barrett, T.G.6
Kirk, J.M.W.7
-
6
-
-
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, Berthezène F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T. 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
Diaz, A.4
Manavela, M.5
Berthezène, 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
-
7
-
-
26244452186
-
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
-
Lebl J, Vosahlo J, Pfaeffle RW, Stobbe H, Cerna J, Novotna D, Zapletalova J, Kalvachova B, Hana V, Weiss V, Blum WF. 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
Stobbe, H.4
Cerna, J.5
Novotna, D.6
Zapletalova, J.7
Kalvachova, B.8
Hana, V.9
Weiss, V.10
Blum, W.F.11
-
9
-
-
23244433749
-
Growth hormone deficiency and combined pituitary hormone deficiency: Does the genotype matter?
-
Dattani MT. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol 2005; 63: 121-130.
-
(2005)
Clin Endocrinol
, vol.63
, pp. 121-130
-
-
Dattani, M.T.1
-
10
-
-
17344362762
-
Mutations in the homeo-box gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JKH, Hindmarsh PC, Kraus S, Beddington RSP, Robinson I. Mutations in the homeo-box 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
Thomas, P.Q.3
Brickman, J.M.4
Gupta, R.5
Martensson, I.L.6
Toresson, H.7
Fox, M.8
Wales, J.K.H.9
Hindmarsh, P.C.10
Kraus, S.11
Beddington, R.S.P.12
Robinson, I.13
-
11
-
-
0345491543
-
Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging
-
Kim SS, Kim Y. Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Horm Res 2003; 60: 277-283.
-
(2003)
Horm Res
, vol.60
, pp. 277-283
-
-
Kim, S.S.1
Kim, Y.2
-
12
-
-
34249875937
-
Hypopituitarism in two brothers born by breech delivery
-
Del Rincon JP, Lerman I, Vazquez-Lamadrid J, Gomez-Perez FJ, Morales JJ, Mutchinick O. Hypopituitarism in two brothers born by breech delivery. Endocr Pract 1999; 5: 143-147.
-
(1999)
Endocr Pract
, vol.5
, pp. 143-147
-
-
Del Rincon, J.P.1
Lerman, I.2
Vazquez-Lamadrid, J.3
Gomez-Perez, F.J.4
Morales, J.J.5
Mutchinick, O.6
-
13
-
-
84939655838
-
Hypopituitarism and stalk agenesis: A congenital syndrome worsened by breech delivery
-
Maghnie M, Larizza D, Triulzi D, Sampaolo P, Scotti G, Severi F. Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery. Horm Res 1991; 35: 104-108.
-
(1991)
Horm Res
, vol.35
, pp. 104-108
-
-
Maghnie, M.1
Larizza, D.2
Triulzi, D.3
Sampaolo, P.4
Scotti, G.5
Severi, F.6
-
14
-
-
0033011286
-
Optic nerve hypoplasia with posterior pituitary ectopia: Male predominance and nonassociation with breech delivery
-
Brodsky MC. Optic nerve hypoplasia with posterior pituitary ectopia: male predominance and nonassociation with breech delivery. Am J Ophthalmol 1999; 127: 238-239.
-
(1999)
Am J Ophthalmol
, vol.127
, pp. 238-239
-
-
Brodsky, M.C.1
-
15
-
-
0034458085
-
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1
-
Osorio MGF, Kopp P, Marui S, Latronico AC, Mendonca BB, Arnhold IJP. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J Clin Endocrinol Metab 2000; 85: 2779-2785.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 2779-2785
-
-
Osorio, M.G.F.1
Kopp, P.2
Marui, S.3
Latronico, A.C.4
Mendonca, B.B.5
Arnhold, I.J.P.6
-
16
-
-
0000894250
-
Disorders of growth
-
Kappy MS, Blizzard RM, Migeon CJ, eds, Springfield, IL: CC Thomas
-
Blizzard RM, Johanson A. Disorders of growth. In: Kappy MS, Blizzard RM, Migeon CJ, eds. Wilkins: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. Springfield, IL: CC Thomas, 1994; 383-455.
-
(1994)
Wilkins: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence
, pp. 383-455
-
-
Blizzard, R.M.1
Johanson, A.2
-
17
-
-
0033037225
-
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum
-
Cameron FJ, Khadilkar VV, Stanhope R. Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. Eur J Pediatr 1999; 158: 97-102.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 97-102
-
-
Cameron, F.J.1
Khadilkar, V.V.2
Stanhope, R.3
-
18
-
-
0025300368
-
Growth hormone deficiency in children: Role of magnetic resonance imaging in assessing aetiopathogenesis and prognosis in idiopathic hypopituitarism
-
Pellini C, diNatale B, De Angelis R, Bressani N, Scotti G, Triulzi F, Chiumello G. Growth hormone deficiency in children: role of magnetic resonance imaging in assessing aetiopathogenesis and prognosis in idiopathic hypopituitarism. Eur J Pediatr 1990; 149: 536-541.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 536-541
-
-
Pellini, C.1
diNatale, B.2
De Angelis, R.3
Bressani, N.4
Scotti, G.5
Triulzi, F.6
Chiumello, G.7
-
19
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
-
Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson I, Beddington RSP. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic 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
McNay, D.4
Warne, G.5
Zacharin, M.6
Cameron, F.7
Hurst, J.8
Woods, K.9
Dunger, D.10
Stanhope, R.11
Forrest, S.12
Robinson, I.13
Beddington, R.S.P.14
-
20
-
-
0242383356
-
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia
-
Cohen RN, Cohen LE, Botero D, Yu C, Sagar A, Jurkiewicz M, Radovick S. Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. J Clin Endocrinol Metab 2003; 88: 4832-4839.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4832-4839
-
-
Cohen, R.N.1
Cohen, L.E.2
Botero, D.3
Yu, C.4
Sagar, A.5
Jurkiewicz, M.6
Radovick, S.7
-
21
-
-
0037238607
-
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient
-
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab 2003; 88: 45-50.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 45-50
-
-
Tajima, T.1
Hattorri, T.2
Nakajima, T.3
Okuhara, K.4
Sato, K.5
Abe, S.6
Nakae, J.7
Fujieda, K.8
-
22
-
-
0023264054
-
Neuropathology of "septo-optic dyspalsia" (de Morsier syndrome) with immunohistochemical studies to the hypothalamus and pituitary gland
-
Roessmann U, Velasco ME, Small EJ, Hori A. Neuropathology of "septo-optic dyspalsia" (de Morsier syndrome) with immunohistochemical studies to the hypothalamus and pituitary gland. J Neuropathol Exp Neurol 1987; 64: 597-608.
-
(1987)
J Neuropathol Exp Neurol
, vol.64
, pp. 597-608
-
-
Roessmann, U.1
Velasco, M.E.2
Small, E.J.3
Hori, A.4
-
23
-
-
0018044920
-
Septo-optic dysplasia: Development of acquired abnormality? A case report
-
Zaias B, Becker D. Septo-optic dysplasia: development of acquired abnormality? A case report. Trans Am Neurol Assoc 1978; 103: 273-277.
-
(1978)
Trans Am Neurol Assoc
, vol.103
, pp. 273-277
-
-
Zaias, B.1
Becker, D.2
-
24
-
-
34249893877
-
-
Melchor JC. Epidemiología de la presentación podálica. In: Fabre E, ed. Manual del Parto y Puerperio Patológicos. Zaragoza: Ino Reproducciones S.A., 1999; 155-164.
-
Melchor JC. Epidemiología de la presentación podálica. In: Fabre E, ed. Manual del Parto y Puerperio Patológicos. Zaragoza: Ino Reproducciones S.A., 1999; 155-164.
-
-
-
|