-
1
-
-
30744468370
-
Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in northwest England
-
DOI 10.1016/j.jpeds.2005.07.031, PII S0022347605007080
-
L. Patel, R.J. McNally, and E. Harrison Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England The Journal of Pediatrics 148 1 2006 85 88 (Pubitemid 43098960)
-
(2006)
Journal of Pediatrics
, vol.148
, Issue.1
, pp. 85-88
-
-
Patel, L.1
McNally, R.J.Q.2
Harrison, E.3
Lloyd, I.C.4
Clayton, P.E.5
-
2
-
-
77049256915
-
Studies on malformation of cranio-encephalic structures. III. Agenesis of the septum lucidum with malformation of the optic tract
-
G. de Morsier Studies on malformation of cranio-encephalic structures. III. Agenesis of the septum lucidum with malformation of the optic tract Schweizer Archiv für Neurologie und Psychiatrie 77 1-2 1956
-
(1956)
Schweizer Archiv für Neurologie und Psychiatrie
, vol.77
, Issue.12
-
-
De Morsier, G.1
-
4
-
-
36248968056
-
Genetics of septo-optic dysplasia
-
DOI 10.1007/s11102-007-0055-5, Pediatric Pituitary
-
D. Kelberman, and M.T. Dattani Genetics of septo-optic dysplasia Pituitary 10 4 2007 393 407 (Pubitemid 350130586)
-
(2007)
Pituitary
, vol.10
, Issue.4
, pp. 393-407
-
-
Kelberman, D.1
Dattani, M.T.2
-
5
-
-
0345305655
-
Endocrine Status in Patients with Optic Nerve Hypoplasia: Relationship to Midline Central Nervous System Abnormalities and Appearance of the Hypothalamic-Pituitary Axis on Magnetic Resonance Imaging
-
DOI 10.1210/jc.2003-030527
-
N.H. Birkebaek, L. Patel, and N.B. Wright Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging The Journal of Clinical Endocrinology and Metabolism 88 11 2003 5281 5286 (Pubitemid 37452728)
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, Issue.11
, pp. 5281-5286
-
-
Birkebaek, N.H.1
Patel, L.2
Wright, N.B.3
Grigg, J.R.4
Sinha, S.5
Hall, C.M.6
Price, D.A.7
Lloyd, I.C.8
Clayton, P.E.9
-
6
-
-
0024517525
-
Septo-optic dysplasia: MR imaging
-
A.J. Barkovich, E.K. Fram, and D. Norman Septo-optic dysplasia: MR imaging Radiology 171 1 1989 189 192 (Pubitemid 19093067)
-
(1989)
Radiology
, vol.171
, Issue.1
, pp. 189-192
-
-
Barkovich, A.J.1
Fram, E.K.2
Norman, D.3
-
7
-
-
0034102036
-
Septo-optic dysplasia plus: A spectrum of malformations of cortical development
-
S.P. Miller, M.I. Shevell, and Y. Patenaude Septo-optic dysplasia plus: a spectrum of malformations of cortical development Neurology 54 8 2000 1701 1703 (Pubitemid 30226824)
-
(2000)
Neurology
, vol.54
, Issue.8
, pp. 1701-1703
-
-
Miller, S.P.1
Shevell, M.I.2
Patenaude, Y.3
Poulin, C.4
O'Gorman, A.M.5
-
8
-
-
77956474503
-
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia
-
J.R. Parr, N.J. Dale, and L.M. Shaffer Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia Developmental Medicine and Child Neurology 2010 March 29 [Epub ahead of print]
-
(2010)
Developmental Medicine and Child Neurology
-
-
Parr, J.R.1
Dale, N.J.2
Shaffer, L.M.3
-
9
-
-
7244240813
-
Septo-optic dysplasia with digital anomalies - A recurrent pattern syndrome
-
DOI 10.1002/ajmg.a.30309
-
I.M. Harrison, D. Brosnahan, and E. Phelan Septo-optic dysplasia with digital anomalies-a recurrent pattern syndrome American Journal of Medical Genetics 131 1 2004 82 85 (Pubitemid 39434799)
-
(2004)
American Journal of Medical Genetics
, vol.A
, Issue.1
, pp. 82-85
-
-
Harrison, I.M.1
Brosnahan, D.2
Phelan, E.3
Fitzgerald, R.J.4
Reardon, W.5
-
10
-
-
77953748795
-
Septo-optic dysplasia plus: Clinical presentation and magnetic resonance imaging findings
-
J.P. Matushita Jr., C. Tiel, and R.R. Batista Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings Arquivos de Neuro-Psiquiatria 68 2 2010 315 316
-
(2010)
Arquivos de Neuro-Psiquiatria
, vol.68
, Issue.2
, pp. 315-316
-
-
Matushita, Jr.J.P.1
Tiel, C.2
Batista, R.R.3
-
12
-
-
70449713911
-
Septo-optic dysplasia, limb anomalies and cutis aplasia: Further evidence for overlap between Pagon and Adams-Oliver syndromes
-
C.C. Pottinger, H. Joshi, and S.A. Rowe Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes Clinical Dysmorphology 18 4 2009 228 231
-
(2009)
Clinical Dysmorphology
, vol.18
, Issue.4
, pp. 228-231
-
-
Pottinger, C.C.1
Joshi, H.2
Rowe, S.A.3
-
13
-
-
74549122387
-
Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia
-
S.A. Temtamy, M.S. Aglan, and A.M. Ashour Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia Clinical Dysmorphology 19 1 2010 14 22
-
(2010)
Clinical Dysmorphology
, vol.19
, Issue.1
, pp. 14-22
-
-
Temtamy, S.A.1
Aglan, M.S.2
Ashour, A.M.3
-
14
-
-
0035656441
-
Septo-optic dysplasia with olfactory tract and bulb hypoplasia
-
DOI 10.1067/mpa.2001.118869
-
L.M. Levine, M.T. Bhatti, and A.A. Mancuso Septo-optic dysplasia with olfactory tract and bulb hypoplasia Journal of AAPOS 5 6 2001 398 399 (Pubitemid 33601328)
-
(2001)
Journal of AAPOS
, vol.5
, Issue.6
, pp. 398-399
-
-
Levine, L.M.1
Bhatti, M.T.2
Mancuso, A.A.3
-
15
-
-
3042799942
-
Congenital third nerve palsy in septo-optic dysplasia [2]
-
A. Langmann, and S. Lindner Congenital third nerve palsy in septo-optic dysplasia The British Journal of Ophthalmology 88 7 2004 969 (Pubitemid 38869567)
-
(2004)
British Journal of Ophthalmology
, vol.88
, Issue.7
, pp. 969
-
-
Langmann, A.1
Lindner, S.2
-
17
-
-
70349964606
-
Septo-optic dysplasia with bilateral congenital corneal anesthesia
-
C.C. Chow, R. Kapur, and M.G. Wood Septo-optic dysplasia with bilateral congenital corneal anesthesia Journal of AAPOS 13 5 2009 494 495
-
(2009)
Journal of AAPOS
, vol.13
, Issue.5
, pp. 494-495
-
-
Chow, C.C.1
Kapur, R.2
Wood, M.G.3
-
18
-
-
0021359407
-
Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities
-
R. Stanhope, M.A. Preece, and C.G. Brook Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities Archives of Disease in Childhood 59 2 1984 111 114 (Pubitemid 14158855)
-
(1984)
Archives of Disease in Childhood
, vol.59
, Issue.2
, pp. 111-114
-
-
Stanhope, R.1
Preece, M.A.2
Brook, C.G.D.3
-
19
-
-
0021744653
-
The endocrine spectrum of septo-optic dysplasia
-
N. Izenberg, M. Rosenblum, and J.S. Parks The endocrine spectrum of septo-optic dysplasia Clinical Pediatrics 23 11 1984 632 636 (Pubitemid 15201835)
-
(1984)
Clinical Pediatrics
, vol.23
, Issue.11
, pp. 632-636
-
-
Izenberg, N.1
Rosenblum, M.2
Parks, J.S.3
-
20
-
-
68949218044
-
Congenital hypopituitarism: Clinical, molecular and neuroradiological correlates
-
A. Mehta, P.C. Hindmarsh, and H. Mehta Congenital hypopituitarism: clinical, molecular and neuroradiological correlates Clinical Endocrinology 71 3 2009 376 382
-
(2009)
Clinical Endocrinology
, vol.71
, Issue.3
, pp. 376-382
-
-
Mehta, A.1
Hindmarsh, P.C.2
Mehta, H.3
-
21
-
-
27844470124
-
Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia
-
N.G. Haddad, and E.A. Eugster Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia Journal of Pediatric Endocrinology & Metabolism 18 9 2005 853 858 (Pubitemid 41645285)
-
(2005)
Journal of Pediatric Endocrinology and Metabolism
, vol.18
, Issue.9
, pp. 853-858
-
-
Haddad, N.G.1
Eugster, E.A.2
-
23
-
-
0025373142
-
Septo-optic dysplasia in two siblings
-
J.D. Benner, M.W. Preslan, and E. Gratz Septo-optic dysplasia in two siblings American Journal of Ophthalmology 109 6 1990 632 637 (Pubitemid 20183423)
-
(1990)
American Journal of Ophthalmology
, vol.109
, Issue.6
, pp. 632-637
-
-
Benner, J.D.1
Preslan, M.W.2
Gratz, E.3
Joslyn, J.4
Schwartz, M.5
Kelman, S.6
-
24
-
-
41849109879
-
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
-
DOI 10.1002/ajmg.a.32114
-
L. Al-Gazali, J. Hertecant, and K. Algawi A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family American Journal of Medical Genetics 146 7 2008 813 819 (Pubitemid 351499784)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.7
, pp. 813-819
-
-
Al-Gazali, L.1
Hertecant, J.2
Algawi, K.3
El Teraifi, H.4
Dattani, M.5
-
25
-
-
33846895037
-
Neuropathology of developmental abnormalities
-
DOI 10.1016/j.braindev.2006.08.006, PII S038776040600180X
-
K. Suzuki Neuropathology of developmental abnormalities Brain & Development 29 3 2007 129 141 (Pubitemid 46240699)
-
(2007)
Brain and Development
, vol.29
, Issue.3
, pp. 129-141
-
-
Suzuki, K.1
-
26
-
-
33744992190
-
Induction and specification of cranial placodes
-
DOI 10.1016/j.ydbio.2006.03.009, PII S0012160606001965
-
G. Schlosser Induction and specification of cranial placodes Developmental Biology 294 2 2006 303 351 (Pubitemid 43866685)
-
(2006)
Developmental Biology
, vol.294
, Issue.2
, pp. 303-351
-
-
Schlosser, G.1
-
27
-
-
2642653223
-
Multistep signaling requirements for pituitary organogenesis in vivo
-
M. Treier, A.S. Gleiberman, and S.M. O'Connell Multistep signaling requirements for pituitary organogenesis in vivo Genes & Development 12 11 1998 1691 1704 (Pubitemid 28299519)
-
(1998)
Genes and Development
, vol.12
, Issue.11
, pp. 1691-1704
-
-
Treier, M.1
Gleiberman, A.S.2
O'Connell, S.M.3
Szeto, D.P.4
McMahon, J.A.5
McMahon, A.P.6
Rosenfeld, M.G.7
-
28
-
-
0032433269
-
Formation of Rathke's pouch requires dual induction from the diencephalon
-
N. Takuma, H.Z. Sheng, and Y. Furuta Formation of Rathke's pouch requires dual induction from the diencephalon Development (Cambridge, England) 125 23 1998 4835 4840 (Pubitemid 29027212)
-
(1998)
Development
, vol.125
, Issue.23
, pp. 4835-4840
-
-
Takuma, N.1
Sheng, H.Z.2
Furuta, Y.3
Ward, J.M.4
Sharma, K.5
Hogan, B.L.M.6
Pfaff, S.L.7
Westphal, H.8
Kimura, S.9
Mahon, K.A.10
-
29
-
-
24644474710
-
Early development of the pituitary gland: Induction and shaping of Rathke's pouch
-
DOI 10.1007/s11154-005-3047-7
-
K. Rizzoti, and R. Lovell-Badge Early development of the pituitary gland: induction and shaping of Rathke's pouch Reviews in Endocrine & Metabolic Disorders 6 3 2005 161 172 (Pubitemid 41285594)
-
(2005)
Reviews in Endocrine and Metabolic Disorders
, vol.6
, Issue.3
, pp. 161-172
-
-
Rizzoti, K.1
Lovell-Badge, R.2
-
30
-
-
0032707757
-
Signaling mechanisms in pituitary morphogenesis and cell fate determination
-
J.S. Dasen, and M.G. Rosenfeld Signaling mechanisms in pituitary morphogenesis and cell fate determination Current Opinion in Cell Biology 11 6 1999 669 677
-
(1999)
Current Opinion in Cell Biology
, vol.11
, Issue.6
, pp. 669-677
-
-
Dasen, J.S.1
Rosenfeld, M.G.2
-
31
-
-
33744471622
-
Cell proliferation and vascularization in mouse models of pituitary hormone deficiency
-
DOI 10.1210/me.2005-0409
-
R.D. Ward, B.M. Stone, and L.T. Raetzman Cell proliferation and vascularization in mouse models of pituitary hormone deficiency Molecular Endocrinology 20 6 2006 1378 1390 (Pubitemid 43801238)
-
(2006)
Molecular Endocrinology
, vol.20
, Issue.6
, pp. 1378-1390
-
-
Ward, R.D.1
Stone, B.M.2
Raetzman, L.T.3
Camper, S.A.4
-
32
-
-
73249143539
-
Genetic regulation of pituitary gland development in human and mouse
-
D. Kelberman, K. Rizzoti, and R. Lovell-Badge Genetic regulation of pituitary gland development in human and mouse Endocrine Reviews 30 7 2009 790 829
-
(2009)
Endocrine Reviews
, vol.30
, Issue.7
, pp. 790-829
-
-
Kelberman, D.1
Rizzoti, K.2
Lovell-Badge, R.3
-
33
-
-
9344229266
-
Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
-
H.Z. Sheng, A.B. Zhadanov, and B. Mosinger Jr. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3 Science 272 5264 1996 1004 1007 (Pubitemid 26259316)
-
(1996)
Science
, vol.272
, Issue.5264
, pp. 1004-1007
-
-
Sheng, H.Z.1
Zhadanov, A.B.2
Mosinger Jr., 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
-
34
-
-
37349022230
-
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice
-
DOI 10.1016/j.ydbio.2007.10.006, PII S0012160607014261
-
B.S. Ellsworth, D.L. Butts, and S.A. Camper Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice Developmental Biology 313 1 2008 118 129 (Pubitemid 350298308)
-
(2008)
Developmental Biology
, vol.313
, Issue.1
, pp. 118-129
-
-
Ellsworth, B.S.1
Butts, D.L.2
Camper, S.A.3
-
35
-
-
0030767662
-
Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development
-
F.D. Porter, J. Drago, and Y. Xu Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development Development 124 15 1997 2935 2944 (Pubitemid 27370909)
-
(1997)
Development
, vol.124
, Issue.15
, pp. 2935-2944
-
-
Porter, F.D.1
Drago, J.2
Xu, Y.3
Cheema, S.S.4
Wassif, C.5
Huang, S.-P.6
Lee, E.7
Grinberg, A.8
Massalas, J.S.9
Bodine, D.10
Alt, F.11
Westphal, H.12
-
36
-
-
72649083017
-
A role of the LIM-homeobox gene Lhx2 in the regulation of pituitary development
-
Y. Zhao, C.M. Mailloux, and E. Hermesz A role of the LIM-homeobox gene Lhx2 in the regulation of pituitary development Developmental Biology 337 2 2010 313 323
-
(2010)
Developmental Biology
, vol.337
, Issue.2
, pp. 313-323
-
-
Zhao, Y.1
Mailloux, C.M.2
Hermesz, E.3
-
37
-
-
10544256602
-
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
-
DOI 10.1038/384327a0
-
M.W. Sornson, W. Wu, and J.S. Dasen Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism Nature 384 6607 1996 327 333 (Pubitemid 26408507)
-
(1996)
Nature
, vol.384
, Issue.6607
, 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, L.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
-
38
-
-
0028126819
-
Pit-1 determines cell types during development of the anterior pituitary gland. A model for transcriptional regulation of cell phenotypes in mammalian organogenesis
-
B. Andersen, and M.G. Rosenfeld Pit-1 determines cell types during development of the anterior pituitary gland. A model for transcriptional regulation of cell phenotypes in mammalian organogenesis The Journal of Biological Chemistry 269 47 1994 29335 29338
-
(1994)
The Journal of Biological Chemistry
, vol.269
, Issue.47
, pp. 29335-29338
-
-
Andersen, B.1
Rosenfeld, M.G.2
-
39
-
-
14844322343
-
Role of PROP1 in pituitary gland growth
-
DOI 10.1210/me.2004-0341
-
R.D. Ward, L.T. Raetzman, and H. Suh Role of PROP1 in pituitary gland growth Molecular Endocrinology 19 3 2005 698 710 (Pubitemid 40349441)
-
(2005)
Molecular Endocrinology
, vol.19
, Issue.3
, pp. 698-710
-
-
Ward, R.D.1
Raetzman, L.T.2
Suh, H.3
Stone, B.M.4
Nasonkin, I.O.5
Camper, S.A.6
-
40
-
-
64849104562
-
Disorders of prosencephalic development
-
P. Volpe, G. Campobasso, and V. De R Disorders of prosencephalic development Prenatal Diagnosis 29 4 2009 340 354
-
(2009)
Prenatal Diagnosis
, vol.29
, Issue.4
, pp. 340-354
-
-
Volpe, P.1
Campobasso, G.2
De R, V.3
-
42
-
-
0028908976
-
Sequence, genomic organization, and expression of the novel homeobox gene Hesx1
-
P.Q. Thomas, B.V. Johnson, and J. Rathjen Sequence, genomic organization, and expression of the novel homeobox gene Hesx1 The Journal of Biological Chemistry 270 8 1995 3869 3875
-
(1995)
The Journal of Biological Chemistry
, vol.270
, Issue.8
, pp. 3869-3875
-
-
Thomas, P.Q.1
Johnson, B.V.2
Rathjen, J.3
-
43
-
-
0035576879
-
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis
-
DOI 10.1101/gad.932601
-
J.S. Dasen, J.P. Barbera, and T.S. Herman Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis Genes & Development 15 23 2001 3193 3207 (Pubitemid 33115682)
-
(2001)
Genes and Development
, vol.15
, Issue.23
, pp. 3193-3207
-
-
Dasen, J.S.1
Barbera, J.-P.M.2
Herman, T.S.3
O'Connell, S.4
Olson, L.5
Ju, B.6
Tollkuhn, J.7
Baek, S.H.8
Rose, D.W.9
Rosenfeld, M.G.10
-
44
-
-
33646134106
-
Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination
-
L.E. Olson, J. Tollkuhn, and C. Scafoglio Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination Cell 125 3 2006 593 605
-
(2006)
Cell
, vol.125
, Issue.3
, pp. 593-605
-
-
Olson, L.E.1
Tollkuhn, J.2
Scafoglio, C.3
-
46
-
-
17344362762
-
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
-
DOI 10.1038/477
-
M.T. Dattani, J.P. Martinez-Barbera, and P.Q. Thomas Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse Nature Genetics 19 2 1998 125 133 (Pubitemid 28248792)
-
(1998)
Nature Genetics
, vol.19
, Issue.2
, 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
Krauss, S.11
Beddington, R.S.P.12
Robinson, I.C.A.F.13
-
47
-
-
64249164439
-
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
-
E. Sajedi, C. Gaston-Massuet, and M. Signore Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism Disease Models & Mechanisms 1 4-5 2008 241 254
-
(2008)
Disease Models & Mechanisms
, vol.1
, Issue.45
, pp. 241-254
-
-
Sajedi, E.1
Gaston-Massuet, C.2
Signore, M.3
-
48
-
-
34248545437
-
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain
-
DOI 10.1242/dev.02829
-
C.L. Andoniadou, M. Signore, and E. Sajedi Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain Development 134 8 2007 1499 1508 (Pubitemid 46746302)
-
(2007)
Development
, vol.134
, Issue.8
, pp. 1499-1508
-
-
Andoniadou, C.L.1
Signore, M.2
Sajedi, E.3
Gaston-Massuet, C.4
Kelberman, D.5
Burns, A.J.6
Itasaki, N.7
Dattani, M.8
Martinez-Barnera, J.P.9
-
49
-
-
0346096720
-
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
-
DOI 10.1172/JCI200318589
-
L.R. Carvalho, K.S. Woods, and B.B. Mendonca A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction The Journal of Clinical Investigation 112 8 2003 1192 1201 (Pubitemid 38056296)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.8
, pp. 1192-1201
-
-
Carvalho, L.R.1
Woods, K.S.2
Mendonca, B.B.3
Marcal, N.4
Zamparini, A.L.5
Stifani, S.6
Brickman, J.M.7
Arnhold, I.J.P.8
Dattani, M.T.9
-
50
-
-
0035165103
-
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
-
P.Q. Thomas, M.T. Dattani, and J.M. Brickman Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia Human Molecular Genetics 10 1 2001 39 45 (Pubitemid 32051566)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.1
, 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.C.A.F.13
Beddington, R.S.P.14
-
52
-
-
0242383356
-
Enhanced Repression by HESX1 as a Cause of Hypopituitarism and Septooptic Dysplasia
-
DOI 10.1210/jc.2002-021868
-
R.N. Cohen, L.E. Cohen, and D. Botero Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia The Journal of Clinical Endocrinology and Metabolism 88 10 2003 4832 4839 (Pubitemid 37357533)
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, Issue.10
, 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
-
53
-
-
0037238607
-
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient
-
DOI 10.1210/jc.2002-020818
-
T. Tajima, T. Hattorri, and T. Nakajima Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient The Journal of Clinical Endocrinology and Metabolism 88 1 2003 45 50 (Pubitemid 36115141)
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, Issue.1
, 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
-
54
-
-
33646029005
-
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary
-
M.L. Sobrier, I. Netchine, and C. Heinrichs Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary Human Mutation 25 5 2005 503
-
(2005)
Human Mutation
, vol.25
, Issue.5
, pp. 503
-
-
Sobrier, M.L.1
Netchine, I.2
Heinrichs, C.3
-
55
-
-
33751514546
-
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities
-
DOI 10.1210/jc.2006-0426
-
M.L. Sobrier, M. Maghnie, and M.P. Vie-Luton Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities The Journal of Clinical Endocrinology and Metabolism 91 11 2006 4528 4536 (Pubitemid 44833435)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.11
, pp. 4528-4536
-
-
Sobrier, M.-L.1
Maghnie, M.2
Vie-Luton, M.-P.3
Secco, A.4
Di Iorgi, N.5
Lorini, R.6
Amselem, S.7
-
56
-
-
34047250990
-
Panhypopituitarism: Genetic versus acquired etiological factors
-
R. Coya, A. Vela, and G. Perez de Nanclares Panhypopituitarism: genetic versus acquired etiological factors Journal of Pediatric Endocrinology & Metabolism 20 1 2007 27 36 (Pubitemid 46863535)
-
(2007)
Journal of Pediatric Endocrinology and Metabolism
, vol.20
, Issue.1
, pp. 27-36
-
-
Coya, R.1
Vela, A.2
Perez De Nanclares, G.3
Rica, I.4
Castano, L.5
Busturia, M.A.6
Martul, P.7
Albisu, J.8
Aleixandre, F.9
Barrio, R.10
Bell, J.11
Cortazar, A.12
Diaz Cadorniga, F.13
Fernandez, C.14
Ferragut, J.15
Luzuriaga, C.16
Oyarzabal, M.17
Riano, I.18
Rodriguez, A.19
Rodriguez, M.20
Ruiz Cano, J.21
Santos, L.22
Sobradillo, B.23
Villabona, C.24
Zapico, M.25
more..
-
57
-
-
56249109079
-
Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia
-
G. Corneli, D. Vivenza, and F. Prodam Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia Journal of Endocrinological Investigation 31 8 2008 689 693
-
(2008)
Journal of Endocrinological Investigation
, vol.31
, Issue.8
, pp. 689-693
-
-
Corneli, G.1
Vivenza, D.2
Prodam, F.3
-
58
-
-
13844250648
-
SOX genes and neural progenitor identity
-
DOI 10.1016/j.conb.2005.01.016
-
L. Pevny, and M. Placzek SOX genes and neural progenitor identity Current Opinion in Neurobiology 15 1 2005 7 13 (Pubitemid 40249955)
-
(2005)
Current Opinion in Neurobiology
, vol.15
, Issue.1
, pp. 7-13
-
-
Pevny, L.1
Placzek, M.2
-
60
-
-
0037227099
-
Multipotent cell lineages in early mouse development depend on SOX2 function
-
DOI 10.1101/gad.224503
-
A.A. Avilion, S.K. Nicolis, and L.H. Pevny Multipotent cell lineages in early mouse development depend on SOX2 function Genes & Development 17 1 2003 126 140 (Pubitemid 36062514)
-
(2003)
Genes and Development
, vol.17
, Issue.1
, 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
-
61
-
-
33745147915
-
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
-
O.V. Taranova, S.T. Magness, and B.M. Fagan SOX2 is a dose-dependent regulator of retinal neural progenitor competence Genes & Development 20 9 2006 1187 1202
-
(2006)
Genes & Development
, vol.20
, Issue.9
, pp. 1187-1202
-
-
Taranova, O.V.1
Magness, S.T.2
Fagan, B.M.3
-
62
-
-
33748298959
-
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
-
DOI 10.1172/JCI28658
-
D. Kelberman, K. Rizzoti, and A. Avilion Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans The Journal of Clinical Investigation 116 9 2006 2442 2455 (Pubitemid 44330143)
-
(2006)
Journal of Clinical Investigation
, vol.116
, Issue.9
, pp. 2442-2455
-
-
Kelberman, D.1
Rizzoti, K.2
Avilion, A.3
Bitner-Glindzicz, M.4
Cianfarani, S.5
Collins, J.6
Kling Chong, W.7
Kirk, J.M.W.8
Achermann, J.C.9
Ross, R.10
Carmignac, D.11
Lovell-Badge, R.12
Robinson, I.C.A.F.13
Dattani, M.T.14
-
63
-
-
43249119819
-
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development
-
DOI 10.1210/jc.2007-2337
-
D. Kelberman, S.C. de Castro, and S. Huang SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development The Journal of Clinical Endocrinology and Metabolism 93 5 2008 1865 1873 (Pubitemid 351656532)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.5
, pp. 1865-1873
-
-
Kelberman, D.1
De Castro, S.C.P.2
Huang, S.3
Crolla, J.A.4
Palmer, R.5
Gregory, J.W.6
Taylor, D.7
Cavallo, L.8
Faienza, M.F.9
Fischetto, R.10
Achermann, J.C.11
Martinez-Barbera, J.P.12
Rizzoti, K.13
Lovell-Badge, R.14
Robinson, I.C.A.F.15
Gerrelli, D.16
Dattani, M.T.17
-
64
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
K.A. Williamson, A.M. Hever, and J. Rainger Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome Human Molecular Genetics 15 9 2006 1413 1422
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.9
, pp. 1413-1422
-
-
Williamson, K.A.1
Hever, A.M.2
Rainger, J.3
-
65
-
-
33947716499
-
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2
-
DOI 10.1530/EJE-06-0606
-
N. Sato, Y. Kamachi, and H. Kondoh Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2 European Journal of Endocrinology 156 2 2007 167 171 (Pubitemid 46554510)
-
(2007)
European Journal of Endocrinology
, vol.156
, Issue.2
, pp. 167-171
-
-
Sato, N.1
Kamachi, Y.2
Kondoh, H.3
Shima, Y.4
Morohashi, K.-I.5
Horikawa, R.6
Ogata, T.7
-
66
-
-
0036212222
-
Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism
-
DOI 10.1006/geno.2002.6741
-
N.M. Solomon, S. Nouri, and G.L. Warne Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism Genomics 79 4 2002 553 559 (Pubitemid 34274297)
-
(2002)
Genomics
, vol.79
, Issue.4
, 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
-
67
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
DOI 10.1086/344661
-
F. Laumonnier, N. Ronce, and B.C. Hamel Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency American Journal of Human Genetics 71 6 2002 1450 1455 (Pubitemid 36015898)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.6
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.J.3
Thomas, P.4
Lespinasse, J.5
Raynaud, M.6
Paringaux, C.7
Van Bokhoven, H.8
Kalscheuer, V.9
Fryns, J.-P.10
Chelly, J.11
Moraine, C.12
Briault, S.13
-
68
-
-
20244386714
-
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
-
DOI 10.1086/430134
-
K.S. Woods, M. Cundall, and J. Turton Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism American Journal of Human Genetics 76 5 2005 833 849 (Pubitemid 40563104)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, 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
Otonkoski, T.11
Martinez-Barbera, J.-P.12
Thomas, P.Q.13
Robinson, I.C.14
Lovell-Badge, R.15
Woodward, K.J.16
Dattani, M.T.17
-
69
-
-
0242664116
-
Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females
-
DOI 10.1128/MCB.23.22.8084-8091.2003
-
J. Weiss, J.J. Meeks, and L. Hurley Sox3 is required for gonadal function, but not sex determination, in males and females Molecular and Cellular Biology 23 22 2003 8084 8091 (Pubitemid 37377500)
-
(2003)
Molecular and Cellular Biology
, vol.23
, Issue.22
, pp. 8084-8091
-
-
Weiss, J.1
Meeks, J.J.2
Hurley, L.3
Raverot, G.4
Frassetto, A.5
Jameson, J.L.6
-
70
-
-
1442360429
-
SOX3 is required during the formation of the hypothalamo-pituitary axis
-
DOI 10.1038/ng1309
-
K. Rizzoti, S. Brunelli, and D. Carmignac SOX3 is required during the formation of the hypothalamo-pituitary axis Nature Genetics 36 3 2004 247 255 (Pubitemid 38282749)
-
(2004)
Nature Genetics
, vol.36
, Issue.3
, pp. 247-255
-
-
Rizzoti, K.1
Brunelli, S.2
Carmignac, D.3
Thomas, P.Q.4
Robinson, I.C.5
Lovell-Badge, R.6
-
71
-
-
35649026742
-
SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis
-
DOI 10.1242/dev.007906
-
K. Rizzoti, and R. Lovell-Badge SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis Development 134 19 2007 3437 3448 (Pubitemid 350028363)
-
(2007)
Development
, vol.134
, Issue.19
, pp. 3437-3448
-
-
Rizzoti, K.1
Lovell-Badge, R.2
-
72
-
-
0035500601
-
Downstream of Otx2, or how to get a head
-
DOI 10.1016/S0168-9525(01)02418-0, PII S0168952501024180
-
E. Boncinelli, and R. Morgan Downstream of Otx2, or how to get a head Trends in Genetics 17 11 2001 633 636 (Pubitemid 32973822)
-
(2001)
Trends in Genetics
, vol.17
, Issue.11
, pp. 633-636
-
-
Boncinelli, E.1
Morgan, R.2
-
73
-
-
4243198352
-
Regulation of Otx2 expression and its functions in mouse forebrain and midbrain
-
DOI 10.1242/dev.01220
-
D. Kurokawa, H. Kiyonari, and R. Nakayama Regulation of Otx2 expression and its functions in mouse forebrain and midbrain Development 131 14 2004 3319 3331 (Pubitemid 39139879)
-
(2004)
Development
, vol.131
, Issue.14
, pp. 3319-3331
-
-
Kurokawa, D.1
Kiyonari, H.2
Nakayama, R.3
Kimura-Yoshida, C.4
Matsuo, I.5
Aizawa, S.6
-
74
-
-
0028895055
-
Mouse Otx2 functions in the formation and patterning of rostral head
-
I. Matsuo, S. Kuratani, and C. Kimura Mouse Otx2 functions in the formation and patterning of rostral head Genes & Development 9 21 1995 2646 2658
-
(1995)
Genes & Development
, vol.9
, Issue.21
, pp. 2646-2658
-
-
Matsuo, I.1
Kuratani, S.2
Kimura, C.3
-
75
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
DOI 10.1086/430721
-
N.K. Ragge, A.G. Brown, and C.M. Poloschek Heterozygous mutations of OTX2 cause severe ocular malformations American Journal of Human Genetics 76 6 2005 1008 1022 (Pubitemid 40705435)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.6
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
Clarke, M.P.6
Russell-Eggitt, I.7
Fielder, A.8
Gerrelli, D.9
Martinez-Barbera, J.P.10
Ruddle, P.11
Hurst, J.12
Collin, J.R.O.13
Salt, A.14
Cooper, S.T.15
Thompson, P.J.16
Sisodiya, S.M.17
Williamson, K.A.18
FitzPatrick, D.R.19
Van Heyningen, V.20
Hanson, I.M.21
more..
-
76
-
-
55549118950
-
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
-
A. Wyatt, P. Bakrania, and D.J. Bunyan Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma Human Mutation 29 11 2008 E278 E283
-
(2008)
Human Mutation
, vol.29
, Issue.11
-
-
Wyatt, A.1
Bakrania, P.2
Bunyan, D.J.3
-
77
-
-
79952524691
-
OTX2 microphthalmia syndrome: Four novel mutations and delineation of a phenotype
-
K.F. Schilter, A. Schneider, and T. Bardakjian OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype Clinical Genetics 2010 May 8 [Epub ahead of print]
-
(2010)
Clinical Genetics
-
-
Schilter, K.F.1
Schneider, A.2
Bardakjian, T.3
-
78
-
-
0028807157
-
Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation
-
D. Acampora, S. Mazan, and Y. Lallemand Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation Development 121 10 1995 3279 3290
-
(1995)
Development
, vol.121
, Issue.10
, pp. 3279-3290
-
-
Acampora, D.1
Mazan, S.2
Lallemand, Y.3
-
79
-
-
0030050751
-
A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain
-
S.L. Ang, O. Jin, and M. Rhinn A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain Development 122 1 1996 243 252 (Pubitemid 26038436)
-
(1996)
Development
, vol.122
, Issue.1
, pp. 243-252
-
-
Ang, S.-L.1
Jin, O.2
Rhinn, M.3
Daigle, N.4
Stevenson, L.5
Rossant, J.6
-
80
-
-
57349103617
-
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency
-
DOI 10.1210/jc.2008-1189
-
D. Diaczok, C. Romero, and J. Zunich A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency The Journal of Clinical Endocrinology and Metabolism 93 11 2008 4351 4359 (Pubitemid 352789531)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.11
, pp. 4351-4359
-
-
Diaczok, D.1
Romero, C.2
Zunich, J.3
Marshall, I.4
Radovick, S.5
-
81
-
-
53749102565
-
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: Functional studies using the IRBP, HESX1, and POU1F1 promoters
-
S. Dateki, M. Fukami, and N. Sato OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters The Journal of Clinical Endocrinology and Metabolism 93 10 2008 3697 3702
-
(2008)
The Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.10
, pp. 3697-3702
-
-
Dateki, S.1
Fukami, M.2
Sato, N.3
-
82
-
-
58149383817
-
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary
-
T. Tajima, A. Ohtake, and M. Hoshino OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary The Journal of Clinical Endocrinology and Metabolism 94 1 2009 314 319
-
(2009)
The Journal of Clinical Endocrinology and Metabolism
, vol.94
, Issue.1
, pp. 314-319
-
-
Tajima, T.1
Ohtake, A.2
Hoshino, M.3
-
83
-
-
76149146697
-
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype
-
S. Dateki, K. Kosaka, and K. Hasegawa Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype The Journal of Clinical Endocrinology and Metabolism 95 2 2010 756 764
-
(2010)
The Journal of Clinical Endocrinology and Metabolism
, vol.95
, Issue.2
, pp. 756-764
-
-
Dateki, S.1
Kosaka, K.2
Hasegawa, K.3
-
84
-
-
77953402842
-
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
-
L. Ashkenazi-Hoffnung, Y. Lebenthal, and A.W. Wyatt A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency Human Genetics 127 6 2010 721 729
-
(2010)
Human Genetics
, vol.127
, Issue.6
, pp. 721-729
-
-
Ashkenazi-Hoffnung, L.1
Lebenthal, Y.2
Wyatt, A.W.3
-
85
-
-
73449095474
-
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
-
R.H. Henderson, K.A. Williamson, and J.S. Kennedy A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction Molecular Vision 15 2009 2442 2447
-
(2009)
Molecular Vision
, vol.15
, pp. 2442-2447
-
-
Henderson, R.H.1
Williamson, K.A.2
Kennedy, J.S.3
|