-
1
-
-
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, 64:1952-1954.
-
(2005)
Neurology
, vol.64
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
-
2
-
-
37549028382
-
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
-
Asmus F., Devlin A., Munz M., et al. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord 2007, 22:2104-2109.
-
(2007)
Mov Disord
, vol.22
, pp. 2104-2109
-
-
Asmus, F.1
Devlin, A.2
Munz, M.3
-
3
-
-
0017141361
-
Familial essential (" benign" ) chorea
-
Bird T.D., Carlson C.B., Hall J.G. Familial essential (" benign" ) chorea. J Med Genet 1976, 13:357-362.
-
(1976)
J Med Genet
, vol.13
, pp. 357-362
-
-
Bird, T.D.1
Carlson, C.B.2
Hall, J.G.3
-
4
-
-
18344393450
-
Mutations in TITF-1 are associated with benign hereditary chorea
-
Breedveld G.J., van Dongen J.W., Danesino C., et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002, 11:971-979.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 971-979
-
-
Breedveld, G.J.1
van Dongen, J.W.2
Danesino, C.3
-
5
-
-
0037183501
-
Clinical and genetic heterogeneity in benign hereditary chorea
-
Breedveld G.J., Percy A.K., MacDonald M.E., et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002, 59:579-584.
-
(2002)
Neurology
, vol.59
, pp. 579-584
-
-
Breedveld, G.J.1
Percy, A.K.2
MacDonald, M.E.3
-
7
-
-
50849093561
-
The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes
-
Butt S.J., Sousa V.H., Fuccillo M.V., et al. The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes. Neuron 2008, 59:722-732.
-
(2008)
Neuron
, vol.59
, pp. 722-732
-
-
Butt, S.J.1
Sousa, V.H.2
Fuccillo, M.V.3
-
8
-
-
0036843938
-
Detection of regulatory variation in mouse genes
-
Cowles C.R., Hirschhorn J.N., Altshuler D., et al. Detection of regulatory variation in mouse genes. Nat Genet 2002, 32:432-437.
-
(2002)
Nat Genet
, vol.32
, pp. 432-437
-
-
Cowles, C.R.1
Hirschhorn, J.N.2
Altshuler, D.3
-
9
-
-
0017499042
-
Familial nonprogressive involuntary movements of childhood
-
Damasio H., Antunes L., Damasio A.R. Familial nonprogressive involuntary movements of childhood. Ann Neurol 1977, 1:602-603.
-
(1977)
Ann Neurol
, vol.1
, pp. 602-603
-
-
Damasio, H.1
Antunes, L.2
Damasio, A.R.3
-
10
-
-
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 B.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, 21:2237-2240.
-
(2006)
Mov Disord
, vol.21
, pp. 2237-2240
-
-
Devos, D.1
Vuillaume, I.2
De, B.A.3
-
11
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K., Vanhole C., Matthijs G., et al. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998, 338:1317-1318.
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
-
12
-
-
0033940919
-
Benign hereditary chorea of early onset maps to chromosome 14q
-
de Vries B.B., Arts W.F., Breedveld G.J., et al. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000, 66:136-142.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 136-142
-
-
de Vries, B.B.1
Arts, W.F.2
Breedveld, G.J.3
-
13
-
-
33748614339
-
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities
-
Dixon J., Jones N.C., Sandell L.L., et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A 2006, 103:13403-13408.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 13403-13408
-
-
Dixon, J.1
Jones, N.C.2
Sandell, L.L.3
-
14
-
-
3342973111
-
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1
-
Doyle D.A., Gonzalez I., Thomas B., et al. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 2004, 145:190-193.
-
(2004)
J Pediatr
, vol.145
, pp. 190-193
-
-
Doyle, D.A.1
Gonzalez, I.2
Thomas, B.3
-
15
-
-
44449127533
-
NKX2.1 specifies cortical interneuron fate by activating Lhx6
-
Du T., Xu Q., Ocbina P.J., et al. NKX2.1 specifies cortical interneuron fate by activating Lhx6. Development 2008, 135:1559-1567.
-
(2008)
Development
, vol.135
, pp. 1559-1567
-
-
Du, T.1
Xu, Q.2
Ocbina, P.J.3
-
16
-
-
0035838439
-
Hereditary benign chorea: clinical and genetic features of a distinct disease
-
Fernandez M., Raskind W., Matsushita M., et al. Hereditary benign chorea: clinical and genetic features of a distinct disease. Neurology 2001, 57:106-110.
-
(2001)
Neurology
, vol.57
, pp. 106-110
-
-
Fernandez, M.1
Raskind, W.2
Matsushita, M.3
-
17
-
-
51849107486
-
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea
-
Ferrara A.M., De M.G., Salvatore E., et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 2008, 18:1005-1009.
-
(2008)
Thyroid
, vol.18
, pp. 1005-1009
-
-
Ferrara, A.M.1
De, M.G.2
Salvatore, E.3
-
18
-
-
0029941166
-
Benign hereditary chorea improved on stimulant therapy
-
Friederich R.L. Benign hereditary chorea improved on stimulant therapy. Pediatr Neurol 1996, 14:326-327.
-
(1996)
Pediatr Neurol
, vol.14
, pp. 326-327
-
-
Friederich, R.L.1
-
19
-
-
57049181326
-
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation
-
Glik A., Vuillaume I., Devos D., et al. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008, 23:1744-1747.
-
(2008)
Mov Disord
, vol.23
, pp. 1744-1747
-
-
Glik, A.1
Vuillaume, I.2
Devos, D.3
-
20
-
-
0008893623
-
Benign hereditary chorea: a rare cause of disability
-
Guala A., Nocita G., Di Maria E., et al. Benign hereditary chorea: a rare cause of disability. Riv Ital Pediatr 2001, 27:150-152.
-
(2001)
Riv Ital Pediatr
, vol.27
, pp. 150-152
-
-
Guala, A.1
Nocita, G.2
Di Maria, E.3
-
21
-
-
0025010740
-
Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity
-
Guazzi S., Price M., de F.M,., et al. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J 1990, 9:3631-3639.
-
(1990)
EMBO J
, vol.9
, pp. 3631-3639
-
-
Guazzi, S.1
Price, M.2
de, F.M.3
-
22
-
-
0014093159
-
Hereditary nonprogressive chorea of early onset
-
Haerer A.F., Currier R.D., Jackson J.F. Hereditary nonprogressive chorea of early onset. N Engl J Med 1967, 276:1220-1224.
-
(1967)
N Engl J Med
, vol.276
, pp. 1220-1224
-
-
Haerer, A.F.1
Currier, R.D.2
Jackson, J.F.3
-
23
-
-
0030152959
-
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease
-
Hageman G., Ippel P.F., van Hout M.S., et al. A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. Clin Neurol Neurosurg 1996, 98:165-170.
-
(1996)
Clin Neurol Neurosurg
, vol.98
, pp. 165-170
-
-
Hageman, G.1
Ippel, P.F.2
van Hout, M.S.3
-
24
-
-
0032513081
-
Structure of the human Nkx2.1 gene
-
Hamdan H., Liu H., Li C., et al. Structure of the human Nkx2.1 gene. Biochim Biophys Acta 1998, 1396:336-348.
-
(1998)
Biochim Biophys Acta
, vol.1396
, pp. 336-348
-
-
Hamdan, H.1
Liu, H.2
Li, C.3
-
25
-
-
79954551216
-
New locus for benign hereditary chorea with adult-onset maps to chromosome 8q22.2-q23.3
-
Hara K., Shimohata T., Kazuhiro S. New locus for benign hereditary chorea with adult-onset maps to chromosome 8q22.2-q23.3. Neurology 2007, 68:A326-A327.
-
(2007)
Neurology
, vol.68
-
-
Hara, K.1
Shimohata, T.2
Kazuhiro, S.3
-
27
-
-
0030587603
-
NK-2 homeobox genes and heart development
-
Harvey R.P. NK-2 homeobox genes and heart development. Dev Biol 1996, 178:203-216.
-
(1996)
Dev Biol
, vol.178
, pp. 203-216
-
-
Harvey, R.P.1
-
28
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
Iwatani N., Mabe H., Devriendt K., et al. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000, 137:272-276.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
-
29
-
-
0030057596
-
The T/ebp null mouse: thyroid-specific 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: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996, 10:60-69.
-
(1996)
Genes Dev
, vol.10
, pp. 60-69
-
-
Kimura, S.1
Hara, Y.2
Pineau, T.3
-
30
-
-
38549114502
-
Benign hereditary chorea revisited: a journey to understanding
-
Kleiner-Fisman G., Lang A.E. Benign hereditary chorea revisited: a journey to understanding. Mov Disord 2007, 22:2297-2305.
-
(2007)
Mov Disord
, vol.22
, pp. 2297-2305
-
-
Kleiner-Fisman, G.1
Lang, A.E.2
-
31
-
-
0042845864
-
Benign hereditary chorea: clinical, genetic, and pathological findings
-
Kleiner-Fisman G., Rogaeva E., Halliday W., et al. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 2003, 54:244-247.
-
(2003)
Ann Neurol
, vol.54
, pp. 244-247
-
-
Kleiner-Fisman, G.1
Rogaeva, E.2
Halliday, W.3
-
32
-
-
27844576187
-
Alterations of striatal neurons in benign hereditary chorea
-
Kleiner-Fisman G., Calingasan N.Y., Putt M., et al. Alterations of striatal neurons in benign hereditary chorea. Mov Disord 2005, 20:1353-1357.
-
(2005)
Mov Disord
, vol.20
, pp. 1353-1357
-
-
Kleiner-Fisman, G.1
Calingasan, N.Y.2
Putt, M.3
-
33
-
-
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, 109:475-480.
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Biebermann, H.3
-
34
-
-
0025271849
-
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography
-
Kuwert T., Lange H.W., Langen K.J., et al. Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. J Neurol 1990, 237:80-84.
-
(1990)
J Neurol
, vol.237
, pp. 80-84
-
-
Kuwert, T.1
Lange, H.W.2
Langen, K.J.3
-
35
-
-
0021243344
-
Sex-linked, nonprogressive, familial chorea
-
Landrieu P., Benchet M.L., Tardieu M., et al. Sex-linked, nonprogressive, familial chorea. Rev Neurol (Paris) 1984, 140:432-433.
-
(1984)
Rev Neurol (Paris)
, vol.140
, pp. 432-433
-
-
Landrieu, P.1
Benchet, M.L.2
Tardieu, M.3
-
36
-
-
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 F.M,., et al. 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, 113:1093-1104.
-
(1991)
Development
, vol.113
, pp. 1093-1104
-
-
Lazzaro, D.1
Price, M.2
de, F.M.3
-
37
-
-
0034643263
-
Two functionally distinct forms of NKX2.1 protein are expressed in the pulmonary epithelium
-
Li C., Cai J., Pan Q., et al. Two functionally distinct forms of NKX2.1 protein are expressed in the pulmonary epithelium. Biochem Biophys Res Commun 2000, 270:462-468.
-
(2000)
Biochem Biophys Res Commun
, vol.270
, pp. 462-468
-
-
Li, C.1
Cai, J.2
Pan, Q.3
-
38
-
-
38149058226
-
Benign hereditary chorea: clinical, neuroimaging, and genetic findings
-
Mahajnah M., Inbar D., Steinmetz A., et al. Benign hereditary chorea: clinical, neuroimaging, and genetic findings. J Child Neurol 2007, 22:1231-1234.
-
(2007)
J Child Neurol
, vol.22
, pp. 1231-1234
-
-
Mahajnah, M.1
Inbar, D.2
Steinmetz, A.3
-
39
-
-
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
-
40
-
-
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 C.M., Perez de N.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, 91:1832-1841.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1832-1841
-
-
Moya, C.M.1
Perez de, N.G.2
Castano, L.3
-
41
-
-
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, 55:875-878.
-
(2008)
Endocr J
, vol.55
, pp. 875-878
-
-
Nagasaki, K.1
Narumi, S.2
Asami, T.3
-
42
-
-
50849121011
-
Postmitotic Nkx2-1 controls the migration of telencephalic interneurons by direct repression of guidance receptors
-
Nobrega-Pereira S., Kessaris N., Du T., et al. Postmitotic Nkx2-1 controls the migration of telencephalic interneurons by direct repression of guidance receptors. Neuron 2008, 59:733-745.
-
(2008)
Neuron
, vol.59
, pp. 733-745
-
-
Nobrega-Pereira, S.1
Kessaris, N.2
Du, T.3
-
43
-
-
0014084736
-
Familial benign chorea with intention tremor: a clinical entity
-
Pincus J.H., Chutorian A. Familial benign chorea with intention tremor: a clinical entity. J Pediatr 1967, 70:724-729.
-
(1967)
J Pediatr
, vol.70
, pp. 724-729
-
-
Pincus, J.H.1
Chutorian, A.2
-
44
-
-
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, 109:469-473.
-
(2002)
J Clin Invest
, vol.109
, pp. 469-473
-
-
Pohlenz, J.1
Dumitrescu, A.2
Zundel, D.3
-
45
-
-
36649028914
-
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
-
Provenzano C., Veneziano L., Appleton R., et al. 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
-
46
-
-
0022350428
-
Benign hereditary chorea - response to steroids
-
Robinson R.O., Thornett C.E. Benign hereditary chorea - response to steroids. Dev Med Child Neurol 1985, 27:814-816.
-
(1985)
Dev Med Child Neurol
, vol.27
, pp. 814-816
-
-
Robinson, R.O.1
Thornett, C.E.2
-
47
-
-
0023841236
-
Hereditary progressive chorea without dementia
-
Schady W., Meara R.J. Hereditary progressive chorea without dementia. J Neurol Neurosurg Psychiatry 1988, 51:295-297.
-
(1988)
J Neurol Neurosurg Psychiatry
, vol.51
, pp. 295-297
-
-
Schady, W.1
Meara, R.J.2
-
48
-
-
0034073531
-
Benign hereditary chorea - entity or syndrome?
-
Schrag A., Quinn N.P., Bhatia K.P., et al. Benign hereditary chorea - entity or syndrome?. Mov Disord 2000, 15:280-288.
-
(2000)
Mov Disord
, vol.15
, pp. 280-288
-
-
Schrag, A.1
Quinn, N.P.2
Bhatia, K.P.3
-
49
-
-
0029621784
-
Longitudinal organization of the anterior neural plate and neural tube
-
Shimamura K., Hartigan D.J., Martinez S., et al. Longitudinal organization of the anterior neural plate and neural tube. Development 1995, 121:3923-3933.
-
(1995)
Development
, vol.121
, pp. 3923-3933
-
-
Shimamura, K.1
Hartigan, D.J.2
Martinez, S.3
-
50
-
-
0022939051
-
Cerebral metabolism of glucose in benign hereditary chorea
-
Suchowersky O., Hayden M.R., Martin W.R., et al. Cerebral metabolism of glucose in benign hereditary chorea. Mov Disord 1986, 1:33-44.
-
(1986)
Mov Disord
, vol.1
, pp. 33-44
-
-
Suchowersky, O.1
Hayden, M.R.2
Martin, W.R.3
-
51
-
-
0032841612
-
Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum
-
Sussel L., Marin O., Kimura S., et al. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development 1999, 126:3359-3370.
-
(1999)
Development
, vol.126
, pp. 3359-3370
-
-
Sussel, L.1
Marin, O.2
Kimura, S.3
-
52
-
-
0035949724
-
Genetic factors are major determinants of phenotypic variability in a mouse model of the digeorge/del22q11 syndromes
-
Taddei I., Morishima M., Huynh T., et al. Genetic factors are major determinants of phenotypic variability in a mouse model of the digeorge/del22q11 syndromes. Proc Natl Acad Sci U S A 2001, 98:11428-11431.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 11428-11431
-
-
Taddei, I.1
Morishima, M.2
Huynh, T.3
-
53
-
-
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 M.A., Breedveld G.J., 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
-
54
-
-
79954554982
-
Clinical features of a new family with benign hereditary chorea carrying a novel TITF-1 mutation
-
Zorzi G., Invernizzi F., Zibordi F., et al. Clinical features of a new family with benign hereditary chorea carrying a novel TITF-1 mutation. Mov Disord 2008, 23:S224.
-
(2008)
Mov Disord
, vol.23
-
-
Zorzi, G.1
Invernizzi, F.2
Zibordi, F.3
|