PubMed (OMIM) for id: 7173

Year	Number of Results
1959	1
1961	1
1964	2
1970	1
1971	1
1973	2
1974	1
1975	1
1976	1
1977	1
1982	1
1983	1
1985	1
1987	2
1988	1
1989	1
1991	1
1992	2
1994	1
1995	2
1996	1
1997	1
1998	1
1999	2
2000	1
2001	1
2002	1
2003	1
2005	2
2007	1
2008	2
2021	1
2024	0

1

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.

Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Furman A, et al. Thyroid. 2021 Oct;31(10):1589-1591. doi: 10.1089/thy.2021.0210. Epub 2021 Jul 16. Thyroid. 2021. PMID: 34128397 Free PMC article.

2

Clinical description of infants with congenital hypothyroidism and iodide organification defects.

Cavarzere P, Castanet M, Polak M, Raux-Demay MC, Cabrol S, Carel JC, Léger J, Czernichow P. Cavarzere P, et al. Horm Res. 2008;70(4):240-8. doi: 10.1159/000151597. Epub 2008 Sep 5. Horm Res. 2008. PMID: 18772598

3

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. Deladoëy J, et al. J Clin Endocrinol Metab. 2008 Feb;93(2):627-33. doi: 10.1210/jc.2007-2276. Epub 2007 Nov 20. J Clin Endocrinol Metab. 2008. PMID: 18029453

4

Naturally occurring mutations in the thyroglobulin gene.

Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Vono-Toniolo J, et al. Thyroid. 2005 Sep;15(9):1021-33. doi: 10.1089/thy.2005.15.1021. Thyroid. 2005. PMID: 16187910 Review.

5

Genetics of congenital hypothyroidism.

Park SM, Chatterjee VK. Park SM, et al. J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. J Med Genet. 2005. PMID: 15863666 Free PMC article. Review.

6

GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM.

LESZYNSKY HE. LESZYNSKY HE. Acta Endocrinol (Copenh). 1964 May;46:103-10. doi: 10.1530/acta.0.0460103. Acta Endocrinol (Copenh). 1964. PMID: 14175495 No abstract available.

7

DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS.

MORRIS JH. MORRIS JH. Arch Intern Med. 1964 Sep;114:417-23. doi: 10.1001/archinte.1964.03860090151018. Arch Intern Med. 1964. PMID: 14170622 No abstract available.

8

Defect of the iodinating system in congenital goitrous cretinism: report of a case with biochemical studies.

HADDAD HM, SIDBURY JB Jr. HADDAD HM, et al. J Clin Endocrinol Metab. 1959 Nov;19:1446-57. doi: 10.1210/jcem-19-11-1446. J Clin Endocrinol Metab. 1959. PMID: 13830735 No abstract available.

9

Inheritance of defective organification of iodine in familial goitrous cretinism.

PARKER RH, BEIER WALTES WH. PARKER RH, et al. J Clin Endocrinol Metab. 1961 Jan;21:21-30. doi: 10.1210/jcem-21-1-21. J Clin Endocrinol Metab. 1961. PMID: 13732855 No abstract available.

10

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P. Fugazzola L, et al. J Clin Endocrinol Metab. 2003 Jul;88(7):3264-71. doi: 10.1210/jc.2002-021377. J Clin Endocrinol Metab. 2003. PMID: 12843174

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