-
1
-
-
18844376979
-
Hypothyroidism in infants and children
-
Lippincott Williams & Wilkins, New York, L.E. Braverman, R.D. Utiger (Eds.)
-
Van Vliet G. Hypothyroidism in infants and children. The Thyroid: A Fundamental and Clinical Text 2005, 1029-1047. Lippincott Williams & Wilkins, New York. ninth ed. L.E. Braverman, R.D. Utiger (Eds.).
-
(2005)
The Thyroid: A Fundamental and Clinical Text
, pp. 1029-1047
-
-
Van Vliet, G.1
-
2
-
-
39049085332
-
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies
-
February
-
Deladoey J., Pfarr N., Vuissoz J.M., et al. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J. Clin. Endocrinol. Metab. 2008, 93(2):627-633. February.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, Issue.2
, pp. 627-633
-
-
Deladoey, J.1
Pfarr, N.2
Vuissoz, J.M.3
-
3
-
-
0022259049
-
Screening for neonatal hypothyroidism in Israel during a 4-year period
-
June
-
Sack J., Kletter G., Amado O., et al. Screening for neonatal hypothyroidism in Israel during a 4-year period. Isr. J. Med. Sci. 1985, 21(6):485-489. June.
-
(1985)
Isr. J. Med. Sci.
, vol.21
, Issue.6
, pp. 485-489
-
-
Sack, J.1
Kletter, G.2
Amado, O.3
-
4
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors
-
May
-
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(5):2009-2014. May.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, Issue.5
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaiti-Pellie, C.3
-
5
-
-
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?
-
May
-
Gagne N., Parma J., Deal C., et al. 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(5):1771-1775. May.
-
(1998)
J. Clin. Endocrinol. Metab.
, vol.83
, Issue.5
, pp. 1771-1775
-
-
Gagne, N.1
Parma, J.2
Deal, C.3
-
6
-
-
0033306083
-
A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations
-
July
-
Devos H., Rodd C., Gagne N., et al. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J. Clin. Endocrinol. Metab. 1999, 84(7):2502-2506. July.
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, Issue.7
, pp. 2502-2506
-
-
Devos, H.1
Rodd, C.2
Gagne, N.3
-
7
-
-
0036739991
-
Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology
-
September
-
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(9):4072-4077. September.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, Issue.9
, pp. 4072-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
-
8
-
-
35148864922
-
Possible non-Mendelian mechanisms of thyroid dysgenesis
-
Deladoey J., Vassart G., Van Vliet G. Possible non-Mendelian mechanisms of thyroid dysgenesis. Endocr. Dev. 2007, 10:29-42.
-
(2007)
Endocr. Dev.
, vol.10
, pp. 29-42
-
-
Deladoey, J.1
Vassart, G.2
Van Vliet, G.3
-
9
-
-
33845257060
-
Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning
-
July
-
Perry R.J., Maroo S., Maclennan A.C., et al. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch. Dis. Child. 2006, 24:972-976. July.
-
(2006)
Arch. Dis. Child.
, vol.24
, pp. 972-976
-
-
Perry, R.J.1
Maroo, S.2
Maclennan, A.C.3
-
10
-
-
0028888593
-
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
January 19
-
Sunthornthepvarakul T., Gottschalk M.E., Hayashi Y., et al. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 1995, 332(3):155-160. January 19.
-
(1995)
N. Engl. J. Med.
, vol.332
, Issue.3
, pp. 155-160
-
-
Sunthornthepvarakul, T.1
Gottschalk, M.E.2
Hayashi, Y.3
-
11
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
June
-
Alberti L., Proverbio M.C., Costagliola S., et al. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J. Clin. Endocrinol. Metab. 2002, 87(6):2549-2555. June.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, Issue.6
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
-
12
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
June 15
-
Abramowicz M.J., Duprez L., Parma J., et al. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 1997, 99(12):3018-3024. June 15.
-
(1997)
J. Clin. Invest.
, vol.99
, Issue.12
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
-
13
-
-
0024550351
-
Evaluation and characterization of the hyt/hyt hypothyroid mouse. II. Abnormalities of TSH and the thyroid gland
-
May
-
Stein S.A., Shanklin D.R., Krulich L., et al. Evaluation and characterization of the hyt/hyt hypothyroid mouse. II. Abnormalities of TSH and the thyroid gland. Neuroendocrinology 1989, 49(5):509-519. May.
-
(1989)
Neuroendocrinology
, vol.49
, Issue.5
, pp. 509-519
-
-
Stein, S.A.1
Shanklin, D.R.2
Krulich, L.3
-
14
-
-
5444271023
-
Thyroid development and its disorders: genetics and molecular mechanisms
-
October
-
De Felice M., Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr. Rev. 2004, 25(5):722-746. October.
-
(2004)
Endocr. Rev.
, vol.25
, Issue.5
, pp. 722-746
-
-
De Felice, M.1
Di Lauro, R.2
-
15
-
-
0026738482
-
Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters
-
September
-
Zannini M., Francis-Lang H., Plachov D., et al. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol. Cell. Biol. 1992, 12(9):4230-4241. September.
-
(1992)
Mol. Cell. Biol.
, vol.12
, Issue.9
, pp. 4230-4241
-
-
Zannini, M.1
Francis-Lang, H.2
Plachov, D.3
-
16
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
August
-
De Felice M., Ovitt C., Biffali E., et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat. Genet. 1998, 19(4):395-398. August.
-
(1998)
Nat. Genet.
, vol.19
, Issue.4
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
-
17
-
-
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
-
May
-
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(5):521-529. May.
-
(2007)
Eur. J. Endocrinol.
, vol.156
, Issue.5
, pp. 521-529
-
-
Al Taji, E.1
Biebermann, H.2
Limanova, Z.3
-
18
-
-
0034885770
-
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child
-
August
-
Congdon T., Nguyen L.Q., Nogueira C.R., et al. 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(8):3962-3967. August.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, Issue.8
, pp. 3962-3967
-
-
Congdon, T.1
Nguyen, L.Q.2
Nogueira, C.R.3
-
19
-
-
8744282728
-
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
-
November
-
de Sanctis L., Corrias A., Romagnolo D., et al. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. J. Clin. Endocrinol. Metab. 2004, 89(11):5669-5674. November.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, Issue.11
, pp. 5669-5674
-
-
de Sanctis, L.1
Corrias, A.2
Romagnolo, D.3
-
20
-
-
22444436353
-
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity
-
July
-
Grasberger H., Ringkananont U., Lefrancois P., et al. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol. Endocrinol. 2005, 19(7):1779-1791. July.
-
(2005)
Mol. Endocrinol.
, vol.19
, Issue.7
, pp. 1779-1791
-
-
Grasberger, H.1
Ringkananont, U.2
Lefrancois, P.3
-
21
-
-
0034776299
-
Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31
-
October
-
Komatsu M., Takahashi T., Takahashi I., et al. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J. Pediatr. 2001, 139(4):597-599. October.
-
(2001)
J. Pediatr.
, vol.139
, Issue.4
, pp. 597-599
-
-
Komatsu, M.1
Takahashi, T.2
Takahashi, I.3
-
22
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
May
-
Macchia P.E., Lapi P., Krude H., et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat. Genet. 1998, 19(1):83-86. May.
-
(1998)
Nat. Genet.
, vol.19
, Issue.1
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
-
23
-
-
34250772461
-
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant
-
July
-
Tonacchera M., Banco M.E., 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(1):34-40. July.
-
(2007)
Clin. Endocrinol. (Oxf.)
, vol.67
, Issue.1
, pp. 34-40
-
-
Tonacchera, M.1
Banco, M.E.2
Montanelli, L.3
-
24
-
-
17744381340
-
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
-
January
-
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(1):234-238. January.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, Issue.1
, pp. 234-238
-
-
Vilain, C.1
Rydlewski, C.2
Duprez, L.3
-
25
-
-
4544229648
-
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
-
September
-
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(9):4285-4291. September.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, Issue.9
, pp. 4285-4291
-
-
Meeus, L.1
Gilbert, B.2
Rydlewski, C.3
-
26
-
-
0030057596
-
The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
-
January 1
-
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. January 1.
-
(1996)
Genes. Dev.
, vol.10
, pp. 60-69
-
-
Kimura, S.1
Hara, Y.2
Pineau, T.3
-
27
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
April 30
-
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(18):1317-1318. April 30.
-
(1998)
N. Engl. J. Med.
, vol.338
, Issue.18
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
-
28
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
August
-
Iwatani N., Mabe H., Devriendt K., Kodama M., Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J. Pediatr. 2000, 137(2):272-276. August.
-
(2000)
J. Pediatr.
, vol.137
, Issue.2
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
29
-
-
0036175892
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
-
February
-
Pohlenz J., Dumitrescu A., Zundel D. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J. Clin. Invest. 2002, 109(4):469-473. February.
-
(2002)
J. Clin. Invest.
, vol.109
, Issue.4
, pp. 469-473
-
-
Pohlenz, J.1
Dumitrescu, A.2
Zundel, D.3
-
30
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
February
-
Krude H., Schutz B., Biebermann H., et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J. Clin. Invest. 2002, 109(4):475-480. February.
-
(2002)
J. Clin. Invest.
, vol.109
, Issue.4
, pp. 475-480
-
-
Krude, H.1
Schutz, B.2
Biebermann, H.3
-
31
-
-
3342973111
-
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1
-
August
-
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(2):190-193. August.
-
(2004)
J. Pediatr.
, vol.145
, Issue.2
, pp. 190-193
-
-
Doyle, D.A.1
Gonzalez, I.2
Thomas, B.3
-
32
-
-
18344393450
-
Mutations in TITF-1 are associated with benign hereditary chorea
-
April 15
-
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(8):971-979. April 15.
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.8
, pp. 971-979
-
-
Breedveld, G.J.1
van Dongen, J.W.2
Danesino, C.3
-
33
-
-
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
-
January
-
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(1):28-30. January.
-
(2005)
Eur. J. Pediatr.
, vol.164
, Issue.1
, pp. 28-30
-
-
Willemsen, M.A.1
Breedveld, G.J.2
Wouda, S.3
-
34
-
-
66149122629
-
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
-
June 15
-
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(12):2266-2276. June 15.
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.12
, pp. 2266-2276
-
-
Carre, A.1
Szinnai, G.2
Castanet, M.3
-
35
-
-
58149373950
-
Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene
-
January
-
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(1):197-203. January.
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, Issue.1
, pp. 197-203
-
-
Maquet, E.1
Costagliola, S.2
Parma, J.3
-
36
-
-
0036177862
-
Transcription factor haploinsufficiency: when half a loaf is not enough
-
February
-
Seidman J.G., Seidman C. Transcription factor haploinsufficiency: when half a loaf is not enough. J. Clin. Invest. 2002, 109(4):451-455. February.
-
(2002)
J. Clin. Invest.
, vol.109
, Issue.4
, pp. 451-455
-
-
Seidman, J.G.1
Seidman, C.2
-
37
-
-
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
-
May
-
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(5):1832-1841. May.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, Issue.5
, pp. 1832-1841
-
-
Moya, C.M.1
Perez de, N.G.2
Castano, L.3
-
38
-
-
12644283550
-
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
-
June
-
Lapi P., Macchia P.E., Chiovato L., et al. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid 1997, 7(3):383-387. June.
-
(1997)
Thyroid
, vol.7
, Issue.3
, pp. 383-387
-
-
Lapi, P.1
Macchia, P.E.2
Chiovato, L.3
-
39
-
-
0030839127
-
Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
-
June
-
Perna M.G., Civitareale D., De F.V., et al. Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. Thyroid 1997, 7(3):377-381. June.
-
(1997)
Thyroid
, vol.7
, Issue.3
, pp. 377-381
-
-
Perna, M.G.1
Civitareale, D.2
De, F.V.3
-
40
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
August
-
Clifton-Bligh R.J., Wentworth J.M., 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. August.
-
(1998)
Nat. Genet.
, vol.19
, pp. 399
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
41
-
-
0037101847
-
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
-
August 15
-
Castanet M., Park S.M., 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(17):2051-2059. August 15.
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.17
, pp. 2051-2059
-
-
Castanet, M.1
Park, S.M.2
Smith, A.3
-
42
-
-
33749549653
-
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis
-
October
-
Baris I., Arisoy A.E., 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(10):4183-4187. October.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, Issue.10
, pp. 4183-4187
-
-
Baris, I.1
Arisoy, A.E.2
Smith, A.3
-
43
-
-
0024555045
-
Congenital hypothyroidism, spiky hair, and cleft palate
-
January
-
Bamforth J.S., Hughes I.A., Lazarus J.H., et al. Congenital hypothyroidism, spiky hair, and cleft palate. J. Med. Genet. 1989, 26(1):49-51. January.
-
(1989)
J. Med. Genet.
, vol.26
, Issue.1
, pp. 49-51
-
-
Bamforth, J.S.1
Hughes, I.A.2
Lazarus, J.H.3
-
44
-
-
0025319314
-
Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism
-
February
-
Chanoine J.P., Toppet V., Body J.J., et al. Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism. J. Endocrinol. Invest. 1990, 13(2):103-109. February.
-
(1990)
J. Endocrinol. Invest.
, vol.13
, Issue.2
, pp. 103-109
-
-
Chanoine, J.P.1
Toppet, V.2
Body, J.J.3
-
45
-
-
36348935021
-
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
-
August 24
-
Carre A., Castanet M., Sura-Trueba S., et al. Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Hum. Genet. 2007, 122:467-476. August 24.
-
(2007)
Hum. Genet.
, vol.122
, pp. 467-476
-
-
Carre, A.1
Castanet, M.2
Sura-Trueba, S.3
-
46
-
-
4143137652
-
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate
-
August
-
Tonacchera M., Banco M., Lapi P., et al. Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. Thyroid 2004, 14(8):584-588. August.
-
(2004)
Thyroid
, vol.14
, Issue.8
, pp. 584-588
-
-
Tonacchera, M.1
Banco, M.2
Lapi, P.3
-
47
-
-
33745268851
-
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
-
June
-
Senee V., Chelala C., Duchatelet S., et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat. Genet. 2006, 38(6):682-687. June.
-
(2006)
Nat. Genet.
, vol.38
, Issue.6
, pp. 682-687
-
-
Senee, V.1
Chelala, C.2
Duchatelet, S.3
-
48
-
-
18244368524
-
A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991-1998)
-
February 1
-
Olivieri A., Stazi M.A., Mastroiacovo P., et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J. Clin. Endocrinol. Metab. 2002, 87(2):557-562. February 1.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, Issue.2
, pp. 557-562
-
-
Olivieri, A.1
Stazi, M.A.2
Mastroiacovo, P.3
-
49
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
July 3
-
Schott J.J., Benson D.W., Basson C.T., et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281(5373):108-111. July 3.
-
(1998)
Science
, vol.281
, Issue.5373
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
-
50
-
-
33646034932
-
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
-
April
-
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(4):1428-1433. April.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, Issue.4
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
-
51
-
-
33747367219
-
Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin
-
July
-
van Trotsenburg A.S., Kempers M.J., Endert E., et al. Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin. Thyroid 2006, 16(7):671-680. July.
-
(2006)
Thyroid
, vol.16
, Issue.7
, pp. 671-680
-
-
van Trotsenburg, A.S.1
Kempers, M.J.2
Endert, E.3
-
52
-
-
0031893397
-
Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature
-
March
-
Scuccimarri R., Rodd C. Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J. Pediatr. Endocrinol. Metab. 1998, 11(2):273-276. March.
-
(1998)
J. Pediatr. Endocrinol. Metab.
, vol.11
, Issue.2
, pp. 273-276
-
-
Scuccimarri, R.1
Rodd, C.2
-
53
-
-
33845603619
-
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome
-
January
-
Cambiaso P., Orazi C., Digilio M.C., et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J. Pediatr. 2007, 150(1):62-65. January.
-
(2007)
J. Pediatr.
, vol.150
, Issue.1
, pp. 62-65
-
-
Cambiaso, P.1
Orazi, C.2
Digilio, M.C.3
-
54
-
-
2442614881
-
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome
-
June 1
-
Bini R., Pela I. New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. Am. J. Med. Genet. A 2004, 127A(2):183-185. June 1.
-
(2004)
Am. J. Med. Genet. A
, vol.127 A
, Issue.2
, pp. 183-185
-
-
Bini, R.1
Pela, I.2
-
55
-
-
0033609916
-
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
-
August 27
-
Cammareri V., Vignati G., Nocera G., et al. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Am. J. Med. Genet. 1999, 85(5):491-494. August 27.
-
(1999)
Am. J. Med. Genet.
, vol.85
, Issue.5
, pp. 491-494
-
-
Cammareri, V.1
Vignati, G.2
Nocera, G.3
-
56
-
-
30744475470
-
The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation
-
February
-
Fagman H., Andersson L., Nilsson M. The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation. Dev. Dyn. 2006, 235(2):444-455. February.
-
(2006)
Dev. Dyn.
, vol.235
, Issue.2
, pp. 444-455
-
-
Fagman, H.1
Andersson, L.2
Nilsson, M.3
-
57
-
-
33750454039
-
Arteries define the position of the thyroid gland during its developmental relocalisation
-
October
-
Alt B., Elsalini O.A., Schrumpf P., et al. Arteries define the position of the thyroid gland during its developmental relocalisation. Development 2006, 133(19):3797-3804. October.
-
(2006)
Development
, vol.133
, Issue.19
, pp. 3797-3804
-
-
Alt, B.1
Elsalini, O.A.2
Schrumpf, P.3
-
58
-
-
0028240982
-
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
-
July
-
Duprez L., Parma J., Van Sande J. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat. Genet. 1994, 7(3):396-401. July.
-
(1994)
Nat. Genet.
, vol.7
, Issue.3
, pp. 396-401
-
-
Duprez, L.1
Parma, J.2
Van Sande, J.3
-
59
-
-
1842295776
-
Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia
-
Leclere J., Bene M.C., Aubert V., et al. Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia. Horm. Res. 1997, 47(4-6):158-162.
-
(1997)
Horm. Res.
, vol.47
, Issue.4-6
, pp. 158-162
-
-
Leclere, J.1
Bene, M.C.2
Aubert, V.3
-
60
-
-
0028891649
-
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
-
January 19
-
Kopp P., Van Sande J., Parma J., et al. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N. Engl. J. Med. 1995, 332(3):150-154. January 19.
-
(1995)
N. Engl. J. Med.
, vol.332
, Issue.3
, pp. 150-154
-
-
Kopp, P.1
Van Sande, J.2
Parma, J.3
-
61
-
-
0032542355
-
Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin
-
December 17
-
Rodien P., Bremont C., Sanson M.L., et al. Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. N. Engl. J. Med. 1998, 339(25):1823-1826. December 17.
-
(1998)
N. Engl. J. Med.
, vol.339
, Issue.25
, pp. 1823-1826
-
-
Rodien, P.1
Bremont, C.2
Sanson, M.L.3
-
62
-
-
8544221172
-
Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas
-
August
-
Parma J., Duprez L., Van Sande J., et al. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J. Clin. Endocrinol. Metab. 1997, 82(8):2695-2701. August.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, Issue.8
, pp. 2695-2701
-
-
Parma, J.1
Duprez, L.2
Van Sande, J.3
-
63
-
-
65549170359
-
Autonomous thyroid adenoma: only an adulthood disease?
-
June
-
Schwab K.O., Pfarr N., van der Werf-Grohmann N., et al. Autonomous thyroid adenoma: only an adulthood disease?. J. Pediatr. 2009, 154(6):931-933. June.
-
(2009)
J. Pediatr.
, vol.154
, Issue.6
, pp. 931-933
-
-
Schwab, K.O.1
Pfarr, N.2
van der Werf-Grohmann, N.3
-
64
-
-
0030830146
-
Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281→isoleucine) in the extracellular domain of the thyrotropin receptor
-
September 15
-
Kopp P., Muirhead S., Jourdain N., et al. Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281→isoleucine) in the extracellular domain of the thyrotropin receptor. J. Clin. Invest. 1997, 100(6):1634-1639. September 15.
-
(1997)
J. Clin. Invest.
, vol.100
, Issue.6
, pp. 1634-1639
-
-
Kopp, P.1
Muirhead, S.2
Jourdain, N.3
-
65
-
-
13544273520
-
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
-
February
-
Castanet M., Sura-Trueba S., Chauty A., et al. Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes. Eur. J. Hum. Genet. 2005, 13(2):232-239. February.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, Issue.2
, pp. 232-239
-
-
Castanet, M.1
Sura-Trueba, S.2
Chauty, A.3
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