-
1
-
-
84876250139
-
The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance
-
Cassio A, Corbetta C, Antonozzi I, et al. The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance. J Endocrinol Invest 2013, 36: 195-203.
-
(2013)
J Endocrinol Invest
, vol.36
, pp. 195-203
-
-
Cassio, A.1
Corbetta, C.2
Antonozzi, I.3
-
2
-
-
5444271023
-
Thyroid development and its disorders: Genetics and molecular mechanisms
-
De FeliceM, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004, 25: 722-46.
-
(2004)
Endocr Rev
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
3
-
-
84876263551
-
Congenital hypothyroidism with eutopic thyroid gland: Analysis of clinical and biochemical features at diagnosis and after re-evaluation
-
Rabbiosi S, Vigone MC, Cortinovis F, et al. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab 2013, 98: 1395-402.
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. 1395-1402
-
-
Rabbiosi, S.1
Vigone, M.C.2
Cortinovis, F.3
-
4
-
-
0032158327
-
Follicle-like structure and polarized monolayer: Role of the extracellular matrix on thyroid cell organization in primary culture
-
Mauchamp J, Mirrione A, Alquier C, Andrè F. Follicle-like structure and polarized monolayer: role of the extracellular matrix on thyroid cell organization in primary culture. Biol Cell 1998, 90: 369-80.
-
(1998)
Biol Cell
, vol.90
, pp. 369-380
-
-
Mauchamp, J.1
Mirrione, A.2
Alquier, C.3
Andrè, F.4
-
5
-
-
0003763973
-
The thyroid
-
Kaufman MH, Bard J, editors. San Diego: Academic Press
-
Kaufman MH, Bard J. The thyroid. In: Kaufman MH, Bard J, editors. The anatomic basis of mouse development. San Diego: Academic Press. 1999, 165-6.
-
(1999)
The Anatomic Basis of Mouse Development
, pp. 165-166
-
-
Kaufman, M.H.1
Bard, J.2
-
6
-
-
12244250148
-
PAX8, TITF1, and FOXE1 gene expression patterns during human development: New insights into human thyroid development and thyroid dysgenesis-associated malformations
-
Trueba SS, Auge J, Mattei G, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005, 90: 455-62.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 455-462
-
-
Trueba, S.S.1
Auge, J.2
Mattei, G.3
-
7
-
-
0026340586
-
The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain
-
Lazzaro D, Price M, De Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991, 113: 1093-104.
-
(1991)
Development
, vol.113
, pp. 1093-1104
-
-
Lazzaro, D.1
Price, M.2
De Felice, M.3
Di Lauro, R.4
-
8
-
-
18344404449
-
TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
-
Zannini M, Avantaggiato V, Biffali E, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997, 16: 3185-97.
-
(1997)
EMBO J
, vol.16
, pp. 3185-3197
-
-
Zannini, M.1
Avantaggiato, V.2
Biffali, E.3
-
9
-
-
0025084237
-
Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland
-
Plachov D, Chowdhury K, Walther C, Simon D, Guenet JL, Gruss P. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 1990, 110: 643-51.
-
(1990)
Development
, vol.110
, pp. 643-651
-
-
Plachov, D.1
Chowdhury, K.2
Walther, C.3
Simon, D.4
Guenet, J.L.5
Gruss, P.6
-
10
-
-
0031984524
-
Hex: A homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors
-
Thomas PQ, Brown A, Beddington R. Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development 1998, 125: 85-95.
-
(1998)
Development
, vol.125
, pp. 85-95
-
-
Thomas, P.Q.1
Brown, A.2
Beddington, R.3
-
11
-
-
0038699024
-
Thyroid hemiagenesis: Prevalence in normal children and effect on thyroid function
-
Maiorana R, Carta A, Floriddia G, et al. Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function. J Clin Endocrinol Metab 2003, 88: 1534-6.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 1534-1536
-
-
Maiorana, R.1
Carta, A.2
Floriddia, G.3
-
12
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
Castanet M, Polak M, Bonaiti-Pellie C, et al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001, 86: 2009-14.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaiti-Pellie, C.3
-
13
-
-
0026904349
-
Birth prevalence of primary congenital hypothyroidism by sex and ethnicity
-
Lorey FW, Cunningham GC. Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol 1992, 64: 531-8.
-
(1992)
Hum Biol
, vol.64
, pp. 531-538
-
-
Lorey, F.W.1
Cunningham, G.C.2
-
14
-
-
0041328169
-
An outline of inherited disorders of the thyroid hormone generating system
-
KnobelM,Medeiros-Neto G. An outline of inherited disorders of the thyroid hormone generating system. Thyroid 2003, 13: 771-801.
-
(2003)
Thyroid
, vol.13
, pp. 771-801
-
-
Knobel, M.1
Medeiros-Neto, G.2
-
15
-
-
0036170727
-
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism
-
Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M, Czernichow P. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002, 87: 575-80.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 575-580
-
-
Léger, J.1
Marinovic, D.2
Garel, C.3
Bonaïti-Pellié, C.4
Polak, M.5
Czernichow, P.6
-
16
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: Implications for screening and for molecular pathophysiology
-
Perry R, Heinrichs C, Bourdoux P, et al. Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002, 87: 4072-7.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4072-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
-
17
-
-
0024425390
-
A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter
-
Civitareale D, Lonigro R, Sinclair AJ, Di Lauro R. A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter. EMBO J 1989, 8: 2537-42.
-
(1989)
EMBO J
, vol.8
, pp. 2537-2542
-
-
Civitareale, D.1
Lonigro, R.2
Sinclair, A.J.3
Di Lauro, R.4
-
18
-
-
0028024585
-
The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis
-
Bohinski RJ, Di Lauro R, Whitsett JA. The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis. Mol Cell Biol 1994, 14: 5671-81.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 5671-5681
-
-
Bohinski, R.J.1
Di Lauro, R.2
Whitsett, J.A.3
-
19
-
-
84860903387
-
Thyroid transcription factor 1, a homeodomain containing transcription factor, contributes to regulating periodic oscillations in GnRH gene expression
-
Matagne V, Kim JG, Ryu BJ, et al. Thyroid transcription factor 1, a homeodomain containing transcription factor, contributes to regulating periodic oscillations in GnRH gene expression. J Neuroendocrinol 2012, 24: 916-29.
-
(2012)
J Neuroendocrinol
, vol.24
, pp. 916-929
-
-
Matagne, V.1
Kim, J.G.2
Ryu, B.J.3
-
20
-
-
0030057596
-
The T/ebp null mouse: Thyroidspecific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
-
Kimura S, Hara Y, Pineau T, et al. The T/ebp null mouse: thyroidspecific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996, 10: 60-9.
-
(1996)
Genes Dev
, vol.10
, pp. 60-69
-
-
Kimura, S.1
Hara, Y.2
Pineau, T.3
-
21
-
-
0032707150
-
Thyroid-specific enhancer-binding protein/thyroid transcription factor 1 is not required for the initial specification of the thyroid and lung primordia
-
Kimura S, Ward JM, Minoo P. Thyroid-specific enhancer-binding protein/thyroid transcription factor 1 is not required for the initial specification of the thyroid and lung primordia. Biochimie 1999, 81: 321-8.
-
(1999)
Biochimie
, vol.81
, pp. 321-328
-
-
Kimura, S.1
Ward, J.M.2
Minoo, P.3
-
22
-
-
51849107486
-
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea
-
Ferrara AM, De Michele G, Salvatore E, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 2008, 18: 1005-9.
-
(2008)
Thyroid
, vol.18
, pp. 1005-1009
-
-
Ferrara, A.M.1
De Michele, G.2
Salvatore, E.3
-
23
-
-
75149175193
-
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "brain-Lung-Thyroid Syndrome"
-
Guillot L, Carre A, Szinnai G, et al. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Hum Mutat 2010, 31: E1146-62.
-
(2010)
Hum Mutat
, vol.31
, pp. 1146-1162
-
-
Guillot, L.1
Carre, A.2
Szinnai, G.3
-
24
-
-
33646411749
-
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress
-
Moya CM, Perez de Nanclares G, Castano L, et al. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 2006, 91: 1832-41.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1832-1841
-
-
Moya, C.M.1
Perez De Nanclares, G.2
Castano, L.3
-
25
-
-
84878872683
-
Identification and functional characterization of a novel mutation in the NKX2-1 gene: Comparison with the data in the literature
-
Nettore I, Ferrara A, Mirra P, et al. Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid 2013, 23: 675-82.
-
(2013)
Thyroid
, vol.23
, pp. 675-682
-
-
Nettore, I.1
Ferrara, A.2
Mirra, P.3
-
26
-
-
0027533927
-
Chromosomal localization of 7 Pax genes and cloning of a novel family member, Pax-9
-
Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M. Chromosomal localization of 7 Pax genes and cloning of a novel family member, Pax-9. Nature Genet 1993, 3: 292-8.
-
(1993)
Nature Genet
, vol.3
, pp. 292-298
-
-
Stapleton, P.1
Weith, A.2
Urbanek, P.3
Kozmik, Z.4
Busslinger, M.5
-
27
-
-
0031777309
-
Follicular cells of the thyroid gland require Pax8 gene function
-
Mansouri A, Chowdhury K, Gruss P. Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998, 19: 87-90.
-
(1998)
Nat Genet
, vol.19
, pp. 87-90
-
-
Mansouri, A.1
Chowdhury, K.2
Gruss, P.3
-
29
-
-
84881428107
-
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNAbinding region: In vitro studies reveal different pathogenic mechanisms
-
Aug 14 [Epub ahead of print]; doi: 10.1089/thy.2012-0141
-
Hermanns P, Grasberger H, Cohen R, et al. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNAbinding region: in vitro studies reveal different pathogenic mechanisms. Thyroid 2013, Aug 14 [Epub ahead of print]; doi: 10.1089/thy.2012-0141.
-
(2013)
Thyroid
-
-
Hermanns, P.1
Grasberger, H.2
Cohen, R.3
-
30
-
-
27844536962
-
A mouse model demonstrates a multigenic origin of congenital hypothyroidism
-
Amendola E, De Luca P, Macchia PE, et al. A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology 2005, 146: 5038-47.
-
(2005)
Endocrinology
, vol.146
, pp. 5038-5047
-
-
Amendola, E.1
De Luca, P.2
Macchia, P.E.3
-
31
-
-
0028127807
-
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse
-
Stuart A, Oates E, Hall C, et al. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol Endocrinol 1994, 8: 129-38.
-
(1994)
Mol Endocrinol
, vol.8
, pp. 129-138
-
-
Stuart, A.1
Oates, E.2
Hall, C.3
-
32
-
-
0344876159
-
Resistance to thyrotropin
-
Refetoff S. Resistance to thyrotropin. J Endocrinol Invest 2003, 26: 770-9.
-
(2003)
J Endocrinol Invest
, vol.26
, pp. 770-779
-
-
Refetoff, S.1
-
33
-
-
0032730383
-
Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)
-
Macchia P, Mattei M, Lapi P, Fenzi G, Di Lauro R. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie 1999, 81: 433-40.
-
(1999)
Biochimie
, vol.81
, pp. 433-440
-
-
Macchia, P.1
Mattei, M.2
Lapi, P.3
Fenzi, G.4
Di Lauro, R.5
-
34
-
-
33947512641
-
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism
-
Santarpia L, Valenzise M, Di Pasquale G, et al. TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. J Endocrinol Invest 2007, 30: 13-9.
-
(2007)
J Endocrinol Invest
, vol.30
, pp. 13-19
-
-
Santarpia, L.1
Valenzise, M.2
Di Pasquale, G.3
-
35
-
-
33947520299
-
FOXE1 polymorphisms: A new piece in the puzzle of thyroid dysgenesis
-
Macchia PE. FOXE1 polymorphisms: a new piece in the puzzle of thyroid dysgenesis. J Endocrinol Invest 2007, 30: 1-2.
-
(2007)
J Endocrinol Invest
, vol.30
, pp. 1-2
-
-
Macchia, P.E.1
-
36
-
-
0036022315
-
Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair
-
Dathan N, Parlato R, Rosica A, De Felice M, Di Lauro R. Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. Dev Dyn 2002, 224: 450-6.
-
(2002)
Dev Dyn
, vol.224
, pp. 450-456
-
-
Dathan, N.1
Parlato, R.2
Rosica, A.3
De Felice, M.4
Di Lauro, R.5
-
37
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
De Felice M, Ovitt C, Biffali E, et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 1998, 19: 395-8.
-
(1998)
Nat Genet
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
-
38
-
-
0024555045
-
Congenital hypothyroidism, spiky hair, and cleft palate
-
Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper P. Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 1989, 26: 49-60.
-
(1989)
J Med Genet
, vol.26
, pp. 49-60
-
-
Bamforth, J.S.1
Hughes, I.A.2
Lazarus, J.H.3
Weaver, C.M.4
Harper, P.5
-
39
-
-
0027383023
-
Nkx-2.5: A novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants
-
Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP. Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 1993, 119: 419-31.
-
(1993)
Development
, vol.119
, pp. 419-431
-
-
Lints, T.J.1
Parsons, L.M.2
Hartley, L.3
Lyons, I.4
Harvey, R.P.5
-
40
-
-
33646034932
-
Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis
-
Dentice M, Cordeddu V, Rosica A, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91: 1428-33.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
-
41
-
-
0034967610
-
Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx
-
Tanaka M, Schinke M, Liao HS, Yamasaki N, Izumo S. Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx. Mol Cell Biol 2001, 21: 4391-8.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 4391-4398
-
-
Tanaka, M.1
Schinke, M.2
Liao, H.S.3
Yamasaki, N.4
Izumo, S.5
-
42
-
-
20944442976
-
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
-
Hirayama-Yamada K, Kamisago M, Akimoto K, et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005, 135: 47-52.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 47-52
-
-
Hirayama-Yamada, K.1
Kamisago, M.2
Akimoto, K.3
-
43
-
-
79956331473
-
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis
-
Hermanns P, Grasberger H, Refetoff S, Pohlenz J. Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab 2011, 96: E977-81.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 977-981
-
-
Hermanns, P.1
Grasberger, H.2
Refetoff, S.3
Pohlenz, J.4
-
44
-
-
27844552888
-
Thyroid dysgenesis: Multigenic or epigenetic. or both?
-
Vassart G, Dumont J. Thyroid dysgenesis: multigenic or epigenetic. or both? Endocrinology 2005, 146: 5035-7.
-
(2005)
Endocrinology
, vol.146
, pp. 5035-5037
-
-
Vassart, G.1
Dumont, J.2
-
45
-
-
5444222248
-
Hierarchy of transcription factors in the morphogenesis of the thyroid
-
Parlato R, Rosica A, Arra C, De Felice M, Di Lauro R. Hierarchy of transcription factors in the morphogenesis of the thyroid. Endocrine J 2000, 47 (Suppl): 107 (abstract).
-
(2000)
Endocrine J
, vol.47
, Issue.SUPPL.
, pp. 107
-
-
Parlato, R.1
Rosica, A.2
Arra, C.3
De Felice, M.4
Di Lauro, R.5
-
46
-
-
84862704576
-
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
-
Brust ES, Beltrao CB, Chammas MC, et al. Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis. Arq Bras Endocrinol Metabol 2012, 56: 173-7.
-
(2012)
Arq Bras Endocrinol Metabol
, vol.56
, pp. 173-177
-
-
Brust, E.S.1
Beltrao, C.B.2
Chammas, M.C.3
-
47
-
-
79951854155
-
In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1
-
Silberschmidt D, Rodriguez-Mallon A, Mithboakar P, et al. In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1. BMC Dev Biol 2011, 11: 9.
-
(2011)
BMC Dev Biol
, vol.11
, pp. 9
-
-
Silberschmidt, D.1
Rodriguez-Mallon, A.2
Mithboakar, P.3
-
48
-
-
84857998508
-
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome
-
Uematsu M, Haginoya K, Kikuchi A, et al. Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. J Neurol Sci 2012, 315: 77-81.
-
(2012)
J Neurol Sci
, vol.315
, pp. 77-81
-
-
Uematsu, M.1
Haginoya, K.2
Kikuchi, A.3
-
49
-
-
33846431982
-
New syndromic form of benign hereditary chorea is associated with a deletion of TITF- 1 and PAX-9 contiguous genes
-
Devos D, Vuillaume I, de Becdelievre A, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF- 1 and PAX-9 contiguous genes. Mov Disord 2006, 21: 2237-40.
-
(2006)
Mov Disord
, vol.21
, pp. 2237-2240
-
-
Devos, D.1
Vuillaume, I.2
De Becdelievre, A.3
-
50
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H, Schutz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002, 109: 475-80.
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Biebermann, H.3
-
51
-
-
0033837870
-
Deletion f NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion f NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000, 137: 272-6.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
52
-
-
18344393450
-
Mutations in TITF- 1 are associated with benign hereditary chorea
-
Breedveld G, van Dongen J, Danesino C, et al. Mutations in TITF- 1 are associated with benign hereditary chorea. Hum Mol Genet 2002, 11: 971-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 971-979
-
-
Breedveld, G.1
Van Dongen, J.2
Danesino, C.3
-
53
-
-
0033940919
-
Benign hereditary chorea of early onset maps to chromosome 14q
-
de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000, 66: 136-42.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 136-142
-
-
De Vries, B.B.1
Arts, W.F.2
Breedveld, G.J.3
Hoogeboom, J.J.4
Niermeijer, M.F.5
Heutink, P.6
-
54
-
-
0032580483
-
Deletion of Thyroid Transcription Factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of Thyroid Transcription Factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998, 338: 1317-8.
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
De Zegher, F.4
-
55
-
-
66149122629
-
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one case
-
Carre A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009, 18: 2266-76.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2266-2276
-
-
Carre, A.1
Szinnai, G.2
Castanet, M.3
-
56
-
-
83455162849
-
Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for TSH
-
Barreiro J, Alonso-Fernandez JR, Castro-Feijoo L, et al. Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH. J Clin Res Pediatr Endocrinol 2011, 3: 208-11.
-
(2011)
J Clin Res Pediatr Endocrinol
, vol.3
, pp. 208-211
-
-
Barreiro, J.1
Alonso-Fernandez, J.R.2
Castro-Feijoo, L.3
-
57
-
-
3342973111
-
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1
-
Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 2004, 145: 190-3.
-
(2004)
J Pediatr
, vol.145
, pp. 190-193
-
-
Doyle, D.A.1
Gonzalez, I.2
Thomas, B.3
Scavina, M.4
-
58
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
-
Pohlenz J, Dumitrescu A, Zundel D, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002, 109: 469-73.
-
(2002)
J Clin Invest
, vol.109
, pp. 469-473
-
-
Pohlenz, J.1
Dumitrescu, A.2
Zundel, D.3
-
59
-
-
51849085189
-
Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin
-
Nagasaki K, Narumi S, Asami T, et al. Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin. Endocr J 2008, 55: 875-8.
-
(2008)
Endocr J
, vol.55
, pp. 875-878
-
-
Nagasaki, K.1
Narumi, S.2
Asami, T.3
-
60
-
-
20444412260
-
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
-
Asmus F, Horber V, Pohlenz J, et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 2005, 64: 1952-4.
-
(2005)
Neurology
, vol.64
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
-
61
-
-
36649028914
-
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
-
Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. J Neurol Sci 2008, 264: 56-62.
-
(2008)
J Neurol Sci
, vol.264
, pp. 56-62
-
-
Provenzano, C.1
Veneziano, L.2
Appleton, R.3
Frontali, M.4
Civitareale, D.5
-
62
-
-
58149373950
-
Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene
-
Maquet E, Costagliola S, Parma J, et al. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab 2009, 94: 197-203.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 197-203
-
-
Maquet, E.1
Costagliola, S.2
Parma, J.3
-
63
-
-
84873196997
-
Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate
-
Gillett ES, Deutsch GH, Bamshad MJ, McAdams RM, Mann PC. Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. J Perinatol 2013, 33: 157-60.
-
(2013)
J Perinatol
, vol.33
, pp. 157-160
-
-
Gillett, E.S.1
Deutsch, G.H.2
Bamshad, M.J.3
McAdams, R.M.4
Mann, P.C.5
-
64
-
-
57049181326
-
Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation
-
Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008, 23: 1744-7.
-
(2008)
Mov Disord
, vol.23
, pp. 1744-1747
-
-
Glik, A.1
Vuillaume, I.2
Devos, D.3
Inzelberg, R.4
-
65
-
-
28344435213
-
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
-
do Carmo Costa M, Costa C, Silva AP, et al. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 2005, 6: 209-15.
-
(2005)
Neurogenetics
, vol.6
, pp. 209-215
-
-
Do Carmo Costa, M.1
Costa, C.2
Silva, A.P.3
-
66
-
-
12144277942
-
Brain-Thyroid-Lung syndrome: A patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
-
Willemsen MA, Breedveld GJ, Wouda S, et al. Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 2005, 164: 28-30.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 28-30
-
-
Willemsen, M.A.1
Breedveld, G.J.2
Wouda, S.3
-
67
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
Macchia PE, Lapi P, Krude H, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998, 19: 83-6.
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
-
68
-
-
84871897603
-
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism
-
Liu SG, Zhang SS, Zhang LQ, et al. Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. J Endocrinol Invest 2012, 35: 889-92.
-
(2012)
J Endocrinol Invest
, vol.35
, pp. 889-892
-
-
Liu, S.G.1
Zhang, S.S.2
Zhang, L.Q.3
-
69
-
-
0034776299
-
Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31
-
Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J Pediatr 2001, 139: 597-9.
-
(2001)
J Pediatr
, vol.139
, pp. 597-599
-
-
Komatsu, M.1
Takahashi, T.2
Takahashi, I.3
Nakamura, M.4
Takahashi, I.5
Takada, G.6
-
70
-
-
0034885770
-
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
-
Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 2001, 86: 3962-7.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3962-3967
-
-
Congdon, T.1
Nguyen, L.Q.2
Nogueira, C.R.3
Habiby, R.L.4
Medeiros-Neto, G.5
Kopp, P.6
-
71
-
-
22444436353
-
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity
-
Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol 2005, 19: 1779-91.
-
(2005)
Mol Endocrinol
, vol.19
, pp. 1779-1791
-
-
Grasberger, H.1
Ringkananont, U.2
Lefrancois, P.3
Abramowicz, M.4
Vassart, G.5
Refetoff, S.6
-
72
-
-
34249071606
-
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: Identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
-
Al Taji E, Biebermann H, Limanova Z, et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol 2007, 156: 521-9.
-
(2007)
Eur J Endocrinol
, vol.156
, pp. 521-529
-
-
Al Taji, E.1
Biebermann, H.2
Limanova, Z.3
-
73
-
-
4544229648
-
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
-
Meeus L, Gilbert B, Rydlewski C, et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J Clin Endocrinol Metab 2004, 89: 4285-91.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4285-4291
-
-
Meeus, L.1
Gilbert, B.2
Rydlewski, C.3
-
74
-
-
78649293974
-
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism
-
Di Palma T, Zampella E, Filippone MG, et al. Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. Clin Endocrinol (Oxf) 2010, 73: 808-14.
-
(2010)
Clin Endocrinol (Oxf)
, vol.73
, pp. 808-814
-
-
Di Palma, T.1
Zampella, E.2
Filippone, M.G.3
-
75
-
-
17744381340
-
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
-
Vilain C, Rydlewski C, Duprez L, et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab 2001, 86: 234-8.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 234-238
-
-
Vilain, C.1
Rydlewski, C.2
Duprez, L.3
-
76
-
-
77951626837
-
Transcription factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients
-
Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 2010, 95: 1981-5.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1981-1985
-
-
Narumi, S.1
Muroya, K.2
Asakura, Y.3
Adachi, M.4
Hasegawa, T.5
-
77
-
-
34250772461
-
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: Identification of a novel sequence variant
-
Tonacchera M, Banco ME, Montanelli L, et al. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. Clin Endocrinol (Oxf) 2007, 67: 34-40.
-
(2007)
Clin Endocrinol (Oxf)
, vol.67
, pp. 34-40
-
-
Tonacchera, M.1
Banco, M.E.2
Montanelli, L.3
-
78
-
-
42149129641
-
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands
-
Esperante SA, Rivolta CM, Miravalle L, et al. Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. Clin Endocrinol (Oxf) 2008, 68: 828-35.
-
(2008)
Clin Endocrinol (Oxf)
, vol.68
, pp. 828-835
-
-
Esperante, S.A.1
Rivolta, C.M.2
Miravalle, L.3
-
79
-
-
8744282728
-
Familial PAX8 small deletion (c.989-992delACCC) associated with extreme phenotype variability
-
de Sanctis L, Corrias A, Romagnolo D, et al. Familial PAX8 Small Deletion (c.989-992delACCC) Associated with Extreme Phenotype Variability. Clin Endocrinol Metab 2004, 89: 5669-74.
-
(2004)
Clin Endocrinol Metab
, vol.89
, pp. 5669-5674
-
-
De Sanctis, L.1
Corrias, A.2
Romagnolo, D.3
-
80
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
-
Castanet M, Park SM, Smith A, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 2002, 11: 2051-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
-
81
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
Clifton-Bligh RJ, Wentworth JM, Heinz P, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998, 19: 399-401.
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
82
-
-
77952304081
-
Spectrum of human Foxe1/TTF2 mutations
-
Castanet M, Polak M. Spectrum of human Foxe1/TTF2 mutations. Horm Res Paediatr 2010, 73: 423-9.
-
(2010)
Horm Res Paediatr
, vol.73
, pp. 423-429
-
-
Castanet, M.1
Polak, M.2
-
83
-
-
33749549653
-
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis
-
Baris I, Arisoy AE, Smith A, et al. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. J Clin Endocrinol Metab 2006, 91: 4183-7.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4183-4187
-
-
Baris, I.1
Arisoy, A.E.2
Smith, A.3
-
84
-
-
75949115911
-
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis
-
Kang IN, Musa M, Harun F, Junit SM. Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. Biochem Genet 2010, 48: 141-51.
-
(2010)
Biochem Genet
, vol.48
, pp. 141-151
-
-
Kang, I.N.1
Musa, M.2
Harun, F.3
Junit, S.M.4
-
85
-
-
35448932805
-
Identification of TSH receptor mutations in three families with resistance to TSH
-
Tonacchera M, Di Cosmo C, De Marco G, et al. Identification of TSH receptor mutations in three families with resistance to TSH. Clin Endocrinol (Oxf) 2007, 67: 712-8.
-
(2007)
Clin Endocrinol (Oxf)
, vol.67
, pp. 712-718
-
-
Tonacchera, M.1
Di Cosmo, C.2
De Marco, G.3
-
86
-
-
84855512467
-
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia
-
Calebiro D, Gelmini G, Cordella D, et al. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia. J Clin Endocrinol Metab 2011, 97: E156-60.
-
(2011)
J Clin Endocrinol Metab
, vol.97
, pp. 156-160
-
-
Calebiro, D.1
Gelmini, G.2
Cordella, D.3
-
87
-
-
23244440500
-
Thyrotropin receptor gene mutations and TSH resistance: Variable expressivity in the heterozygotes
-
Camilot M, Teofoli F, Gandini A, et al. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol (Oxf) 2005, 63: 146-51.
-
(2005)
Clin Endocrinol (Oxf)
, vol.63
, pp. 146-151
-
-
Camilot, M.1
Teofoli, F.2
Gandini, A.3
-
88
-
-
67650257691
-
Subclinical hypothyroidism in children and adolescents: A wide range of clinical, biochemical, and genetic factors involved
-
Rapa A, Monzani A, Moia S, et al. Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved. J Clin Endocrinol Metab 2009, 94: 2414-20.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2414-2420
-
-
Rapa, A.1
Monzani, A.2
Moia, S.3
-
89
-
-
70449083386
-
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism
-
Nicoletti A, Bal M, De Marco G, et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2009, 94: 4187-94.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4187-4194
-
-
Nicoletti, A.1
Bal, M.2
De Marco, G.3
-
90
-
-
58549089290
-
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia
-
De Marco G, Agretti P, Camilot M, et al. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia. Clin Endocrinol (Oxf) 2009, 70: 335-8.
-
(2009)
Clin Endocrinol (Oxf)
, vol.70
, pp. 335-338
-
-
De Marco, G.1
Agretti, P.2
Camilot, M.3
-
91
-
-
10544240361
-
Four families with loss of function mutations of the thyrotropin receptor
-
de Roux N, Misrahi M, Brauner R, et al. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 1996, 81: 4229-35.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4229-4235
-
-
De Roux, N.1
Misrahi, M.2
Brauner, R.3
-
92
-
-
78449277937
-
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
-
Cangul H, Morgan NV, Forman JR, et al. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. Clin Endocrinol (Oxf) 2010, 73: 671-7.
-
(2010)
Clin Endocrinol (Oxf)
, vol.73
, pp. 671-677
-
-
Cangul, H.1
Morgan, N.V.2
Forman, J.R.3
-
93
-
-
66149109163
-
Lossof- function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community
-
Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, et al. Lossof- function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab 2009, 94: 1706-12.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1706-1712
-
-
Tenenbaum-Rakover, Y.1
Grasberger, H.2
Mamanasiri, S.3
-
94
-
-
79956322556
-
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: A genotype-phenotype correlation
-
Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, et al. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab 2011, 96: E1001-6.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 1001-1006
-
-
Sriphrapradang, C.1
Tenenbaum-Rakover, Y.2
Weiss, M.3
-
95
-
-
0030989828
-
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
-
Clifton-Bligh RJ, Gregory JW, Ludgate M, et al. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab 1997, 82: 1094-100.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1094-1100
-
-
Clifton-Bligh, R.J.1
Gregory, J.W.2
Ludgate, M.3
-
96
-
-
65249173572
-
TSHR mutations as a cause of congenital hypothyroidism in Japan: A population-based genetic epidemiology study
-
Narumi S, Muroya K, Abe Y, et al. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. J Clin Endocrinol Metab 2009, 94: 1317-23.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1317-1323
-
-
Narumi, S.1
Muroya, K.2
Abe, Y.3
-
97
-
-
80054734434
-
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism
-
Lee ST, Lee DH, Kim JY, et al. Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. Clin Endocrinol (Oxf) 2011, 75: 715-21.
-
(2011)
Clin Endocrinol (Oxf)
, vol.75
, pp. 715-721
-
-
Lee, S.T.1
Lee, D.H.2
Kim, J.Y.3
-
98
-
-
79961231836
-
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake
-
Narumi S, Nagasaki K, Ishii T, et al. Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. J Clin Endocrinol Metab 2011, 96: E1340-5.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 1340-1345
-
-
Narumi, S.1
Nagasaki, K.2
Ishii, T.3
-
99
-
-
0034751909
-
A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene
-
Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. Thyroid 2001, 11: 977-80.
-
(2001)
Thyroid
, vol.11
, pp. 977-980
-
-
Bretones, P.1
Duprez, L.2
Parma, J.3
David, M.4
Vassart, G.5
Rodien, P.6
-
100
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin- receptor gene
-
Sunthornthepvarakui T, Gottschalk M, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin- receptor gene. N Engl J Med 1995, 332: 155-60.
-
(1995)
N Engl J Med
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakui, T.1
Gottschalk, M.2
Hayashi, Y.3
Refetoff, S.4
-
101
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
Alberti L, Proverbio MC, Costagliola S, et al. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2002 2002, 87: 2549-55.
-
(2002)
J Clin Endocrinol Metab 2002
, vol.87
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
-
102
-
-
84865620341
-
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
-
Cangul H, Aycan Z, Saglam H, et al. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab 2012, 25: 419-26.
-
(2012)
J Pediatr Endocrinol Metab
, vol.25
, pp. 419-426
-
-
Cangul, H.1
Aycan, Z.2
Saglam, H.3
-
103
-
-
77952883494
-
Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism
-
Yuan ZF, Luo YF, Wu YD, Shen Z, Zhao ZY. Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism. Zhonghua Er Ke Za Zhi 2007, 45: 508-12.
-
(2007)
Zhonghua Er Ke Za Zhi
, vol.45
, pp. 508-512
-
-
Yuan, Z.F.1
Luo, Y.F.2
Wu, Y.D.3
Shen, Z.4
Zhao, Z.Y.5
-
104
-
-
8744250289
-
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism
-
Tonacchera M, Perri A, De Marco G, et al. Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2004, 89: 5787-93.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5787-5793
-
-
Tonacchera, M.1
Perri, A.2
De Marco, G.3
-
105
-
-
0034527615
-
A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH
-
Russo D, Betterle C, Arturi F, et al. A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J Clin Endocrinol Metab 2000, 85: 4238-42.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 4238-4242
-
-
Russo, D.1
Betterle, C.2
Arturi, F.3
-
106
-
-
0034851996
-
Thyroid resistance to TSH complicated by autoimmune thyroiditis
-
Tonacchera M, Agretti P, De Marco G, Perri A, Pinchera A, Vitti P, Chiovato L. Thyroid resistance to TSH complicated by autoimmune thyroiditis. J Clin Endocrinol Metab 2001, 86: 4543-6.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4543-4546
-
-
Tonacchera, M.1
Agretti, P.2
De Marco, G.3
Perri, A.4
Pinchera, A.5
Vitti, P.6
Chiovato, L.7
-
107
-
-
0030983833
-
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
-
Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997, 82: 3471-80.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3471-3480
-
-
Biebermann, H.1
Schöneberg, T.2
Krude, H.3
Schultz, G.4
Gudermann, T.5
Grüters, A.6
-
108
-
-
33846152599
-
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism
-
Jeziorowska A, Pniewska-Siark B, Brzezianska E, Pastuszak- Lewandoska D, Lewinski A. A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. Thyroid 2006, 16: 1303-9.
-
(2006)
Thyroid
, vol.16
, pp. 1303-1309
-
-
Jeziorowska, A.1
Pniewska-Siark, B.2
Brzezianska, E.3
Pastuszak- Lewandoska, D.4
Lewinski, A.5
-
109
-
-
0034948831
-
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin
-
Nagashima T, Murakami M, Onigata K, et al. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. Thyroid 2001, 11: 551-9.
-
(2001)
Thyroid
, vol.11
, pp. 551-559
-
-
Nagashima, T.1
Murakami, M.2
Onigata, K.3
-
110
-
-
14644398562
-
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene
-
Shibayama K, Ohyama Y, Hishinuma A, et al. Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. Pediatr Int 2005, 47: 105-8.
-
(2005)
Pediatr Int
, vol.47
, pp. 105-108
-
-
Shibayama, K.1
Ohyama, Y.2
Hishinuma, A.3
-
111
-
-
34347324079
-
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese
-
Kanda K, Mizuno H, Sugiyama Y, Imamine H, Togari H, Onigata K. Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese. Endocrine 2006, 30: 383-8.
-
(2006)
Endocrine
, vol.30
, pp. 383-388
-
-
Kanda, K.1
Mizuno, H.2
Sugiyama, Y.3
Imamine, H.4
Togari, H.5
Onigata, K.6
-
112
-
-
33745202599
-
Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance
-
Tsunekawa K, Onigata K, Morimura T, et al. Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance. Thyroid 2006, 16: 471-9.
-
(2006)
Thyroid
, vol.16
, pp. 471-479
-
-
Tsunekawa, K.1
Onigata, K.2
Morimura, T.3
-
113
-
-
0034454929
-
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
-
TonaccheraM, Agretti P, Pinchera A, et al. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J Clin Endocrinol Metab 2000, 85: 1001-8.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1001-1008
-
-
Tonacchera, M.1
Agretti, P.2
Pinchera, A.3
-
114
-
-
59649103480
-
An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain
-
Sura-Trueba S, Aumas C, Carre A, et al. An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain. Endocrinology 2009, 150: 1043-50.
-
(2009)
Endocrinology
, vol.150
, pp. 1043-1050
-
-
Sura-Trueba, S.1
Aumas, C.2
Carre, A.3
-
115
-
-
0037341985
-
The W546X mutation of the thyrotropin receptor gene: Potential major contributor to thyroid dysfunction in a Caucasian population
-
Jordan N, Williams N, Gregory JW, Evans C, Owen M, Ludgate M. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. J Clin Endocrinol Metab 2003, 88: 1002-5.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 1002-1005
-
-
Jordan, N.1
Williams, N.2
Gregory, J.W.3
Evans, C.4
Owen, M.5
Ludgate, M.6
-
116
-
-
1042288131
-
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
-
Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. Clin Endocrinol (Oxf) 2004, 60: 220-7.
-
(2004)
Clin Endocrinol (Oxf)
, vol.60
, pp. 220-227
-
-
Park, S.M.1
Clifton-Bligh, R.J.2
Betts, P.3
Chatterjee, V.K.4
-
117
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997, 99: 3018-24.
-
(1997)
J Clin Invest
, vol.99
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrichs, C.5
-
118
-
-
29144509731
-
Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V)
-
Fricke-Otto S, Pfarr N, Muhlenberg R, Pohlenz J. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V). Exp Clin Endocrinol Diabetes 2005, 113: 582-5.
-
(2005)
Exp Clin Endocrinol Diabetes
, vol.113
, pp. 582-585
-
-
Fricke-Otto, S.1
Pfarr, N.2
Muhlenberg, R.3
Pohlenz, J.4
-
119
-
-
0028040502
-
Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness
-
Takeshita A, Nagayama Y, Yamashita S, et al. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid 1994, 4: 255-9.
-
(1994)
Thyroid
, vol.4
, pp. 255-259
-
-
Takeshita, A.1
Nagayama, Y.2
Yamashita, S.3
-
120
-
-
0031790855
-
A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling
-
Biebermann H, Schoneberg T, Schulz A, et al. A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling. FASEB J 1998, 12: 1461-71.
-
(1998)
FASEB J
, vol.12
, pp. 1461-1471
-
-
Biebermann, H.1
Schoneberg, T.2
Schulz, A.3
-
121
-
-
1642618157
-
Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11
-
Arseven OK, Wilkes WP, Jameson JL, Kopp P. Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11. Thyroid 2000, 10: 3-10.
-
(2000)
Thyroid
, vol.10
, pp. 3-10
-
-
Arseven, O.K.1
Wilkes, W.P.2
Jameson, J.L.3
Kopp, P.4
-
122
-
-
0032881333
-
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor
-
Tiosano D, Pannain S, Vassart G, et al. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid 1999, 9: 887-94.
-
(1999)
Thyroid
, vol.9
, pp. 887-894
-
-
Tiosano, D.1
Pannain, S.2
Vassart, G.3
-
123
-
-
10044250181
-
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene
-
Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene. Thyroid 2004, 14: 971-4.
-
(2004)
Thyroid
, vol.14
, pp. 971-974
-
-
Richter-Unruh, A.1
Hauffa, B.P.2
Pfarr, N.3
Pohlenz, J.4
-
124
-
-
34447134181
-
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/ Ca2+ cascade mediates TSH action on thyroid hormone synthesis
-
Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum- Rakover Y, Refetoff S. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/ Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab 2007, 92: 2816-20.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2816-2820
-
-
Grasberger, H.1
Van Sande, J.2
Hag-Dahood Mahameed, A.3
Tenenbaum- Rakover, Y.4
Refetoff, S.5
-
125
-
-
0031755047
-
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?
-
Gagné N, Parma J, Deal C, Vassart G, Van Vliet G. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metab 1998, 83: 1771-5.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1771-1775
-
-
Gagné, N.1
Parma, J.2
Deal, C.3
Vassart, G.4
Van Vliet, G.5
-
126
-
-
84871685456
-
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis
-
van Engelen K, Mommersteeg MT, Baars MJ, et al. The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. PLoS One 2012, 7: e52685.
-
(2012)
PLoS One
, vol.7
, pp. 52685
-
-
Van Engelen, K.1
Mommersteeg, M.T.2
Baars, M.J.3
|