-
1
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
9185526
-
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024 9185526
-
(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
-
2
-
-
6444245853
-
Genetics of specific phenotypes of congenital hypothyroidism: A population-based approach
-
10.1089/105072502320908277
-
Calaciura F, Miscio G, Coco A, Leonardi D, Cisternino C, Regalbuto C, Bozzali M, Maiorana R, Ranieri A, Carta A, Buscema M, Trischitta V, Sava L, Tassi V (2002) Genetics of specific phenotypes of congenital hypothyroidism: A population-based approach. Thyroid 12:945-951 10.1089/ 105072502320908277
-
(2002)
Thyroid
, vol.12
, pp. 945-951
-
-
Calaciura, F.1
Miscio, G.2
Coco, A.3
Leonardi, D.4
Cisternino, C.5
Regalbuto, C.6
Bozzali, M.7
Maiorana, R.8
Ranieri, A.9
Carta, A.10
Buscema, M.11
Trischitta, V.12
Sava, L.13
Tassi, V.14
-
3
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
10.1210/jc.86.5.2009
-
Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J (2001) Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014 10.1210/jc.86.5.2009
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaiti-Pellie, C.3
Lyonnet, S.4
Czernichow, P.5
Leger, J.6
-
4
-
-
0034885770
-
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
-
10.1210/jc.86.8.3962
-
Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P (2001) 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 86:3962-3967 10.1210/jc.86.8.3962
-
(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
-
5
-
-
5444271023
-
Thyroid development and its disorders: Genetics and molecular mechanisms
-
10.1210/er.2003-0028
-
De Felice M, Di Lauro R (2004) Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25:722-746 10.1210/ er.2003-0028
-
(2004)
Endocr Rev
, vol.25
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
6
-
-
8744282728
-
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
-
10.1210/jc.2004-0398
-
de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I (2004) Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. J Clin Endocrinol Metab 89:5669-5674 10.1210/jc.2004-0398
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5669-5674
-
-
de Sanctis, L.1
Corrias, A.2
Romagnolo, D.3
Di Palma, T.4
Biava, A.5
Borgarello, G.6
Gianino, P.7
Silvestro, L.8
Zannini, M.9
Dianzani, I.10
-
7
-
-
0020569123
-
Second international conference on neonatal thyroid screening: Progress report
-
6842320
-
Fisher DA (1983) Second international conference on neonatal thyroid screening: Progress report. J Pediatr 102:653-654 6842320
-
(1983)
J Pediatr
, vol.102
, pp. 653-654
-
-
Fisher, D.A.1
-
8
-
-
23044482192
-
Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: Clinical characterization and exclusion of candidate loci
-
10.1210/jc.2005-0572
-
Grasberger H, Mimouni-Bloch A, Vantyghem C-M, Van Vliet G, Abramowicz M, Metzger DL, Abdullatif H, Rydlewski C, Macchia PE, Scherberg NH, Van Sande J, Mimouni M, Weiss RE, Vassart G, Refetoff S (2005a) Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: Clinical characterization and exclusion of candidate loci. J Clin Endocrinol Metab 90:4025-4034 10.1210/jc.2005-0572
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4025-4034
-
-
Grasberger, H.1
Mimouni-Bloch, A.2
Vantyghem, C.-M.3
Van Vliet, G.4
Abramowicz, M.5
Metzger, D.L.6
Abdullatif, H.7
Rydlewski, C.8
Macchia, P.E.9
Scherberg, N.H.10
Van Sande, J.11
Mimouni, M.12
Weiss, R.E.13
Vassart, G.14
Refetoff, S.15
-
9
-
-
22444436353
-
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity
-
10.1210/me.2004-0426
-
Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S (2005b) Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol 19:1779-1791 10.1210/ me.2004-0426
-
(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
-
10
-
-
0034776299
-
Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31
-
10.1067/mpd.2001.117071
-
Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takada G (2001) Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31. J Pediatr 139:597-599 10.1067/mpd.2001.117071
-
(2001)
J Pediatr
, vol.139
, pp. 597-599
-
-
Komatsu, M.1
Takahashi, T.2
Takahashi, I.3
Nakamura, M.4
Takada, G.5
-
11
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
8651312
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363 8651312
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
12
-
-
0028877463
-
Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
-
10.1038/ng1195-241
-
Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247 10.1038/ng1195-241
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
13
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
6585139
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465 6585139
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
14
-
-
0036170727
-
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism
-
10.1210/jc.87.2.575
-
Leger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, Czernichow P (2002) Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 87:575-580 10.1210/jc.87.2.575
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 575-580
-
-
Leger, J.1
Marinovic, D.2
Garel, C.3
Bonaiti-Pellie, C.4
Polak, M.5
Czernichow, P.6
-
15
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
9590296
-
Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19: 83-86 9590296
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
Pirro, M.T.4
Missero, C.5
Chiovato, L.6
Souabni, A.7
Baserga, M.8
Tassi, V.9
Pinchera, A.10
Fenzi, G.11
Gruters, A.12
Busslinger, M.13
Di Lauro, R.14
-
16
-
-
1442349990
-
A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2
-
14988267
-
Meyre D, Lecoeur C, Delplanque J, Francke S, Vatin V, Durand E, Weill J, Dina C, Froguel P (2004) A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2. Diabetes 53:803-811 14988267
-
(2004)
Diabetes
, vol.53
, pp. 803-811
-
-
Meyre, D.1
Lecoeur, C.2
Delplanque, J.3
Francke, S.4
Vatin, V.5
Durand, E.6
Weill, J.7
Dina, C.8
Froguel, P.9
-
17
-
-
0034969238
-
Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach
-
10.1006/geno.2001.6586
-
Moreno JC, Pauws E, van Kampen AH, Jedlickova M, de Vijlder JJ, Ris-Stalpers C (2001) Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach. Genomics 75:70-76 10.1006/geno.2001.6586
-
(2001)
Genomics
, vol.75
, pp. 70-76
-
-
Moreno, J.C.1
Pauws, E.2
van Kampen, A.H.3
Jedlickova, M.4
de Vijlder, J.J.5
Ris-Stalpers, C.6
-
18
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: Implications for screening and for molecular pathophysiology
-
10.1210/jc.2001-011995
-
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G (2002) Discordance of monozygotic twins for thyroid dysgenesis: Implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 87:4072-4077 10.1210/ jc.2001-011995
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4072-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
Khoury, K.4
Szots, F.5
Dussault, J.H.6
Vassart, G.7
Van Vliet, G.8
-
19
-
-
0344876159
-
Resistance to thyrotropin
-
14669836
-
Refetoff S (2003) Resistance to thyrotropin. J Endocrinol Invest 26:770-779 14669836
-
(2003)
J Endocrinol Invest
, vol.26
, pp. 770-779
-
-
Refetoff, S.1
-
21
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
-
8651310
-
Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337 8651310
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1323-1337
-
-
Sobel, E.1
Lange, K.2
-
22
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
10.1056/NEJM199501193320305
-
Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S (1995) Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332: 155-160 10.1056/ NEJM199501193320305
-
(1995)
N Engl J Med
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakul, T.1
Gottschalk, M.E.2
Hayashi, Y.3
Refetoff, S.4
-
23
-
-
8744250289
-
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism
-
10.1210/jc.2004-1243
-
Tonacchera M, Perri A, De Marco G, Agretti P, Banco ME, Di Cosmo C, Grasso L, Vitti P, Chiovato L, Pinchera A (2004) Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 89:5787-5793 10.1210/jc.2004-1243
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5787-5793
-
-
Tonacchera, M.1
Perri, A.2
De Marco, G.3
Agretti, P.4
Banco, M.E.5
Di Cosmo, C.6
Grasso, L.7
Vitti, P.8
Chiovato, L.9
Pinchera, A.10
-
24
-
-
17744381340
-
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
-
10.1210/jc.86.1.234
-
Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G (2001) Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab 86:234-238 10.1210/jc.86.1.234
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 234-238
-
-
Vilain, C.1
Rydlewski, C.2
Duprez, L.3
Heinrichs, C.4
Abramowicz, M.5
Malvaux, P.6
Renneboog, B.7
Parma, J.8
Costagliola, S.9
Vassart, G.10
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