Detalhe da pesquisa
1.
A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
Endocr Res
; 40(3): 146-50, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25328990
2.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nat Genet
; 38(7): 752-4, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16783378
3.
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Clin Endocrinol (Oxf)
; 79(2): 275-81, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236987
4.
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PLoS Genet
; 6(2): e1000833, 2010 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140240
5.
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.
Pediatr Cardiol
; 34(8): 2063-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23400408
6.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Hum Mutat
; 33(12): 1656-64, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753090
7.
Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
J Pediatr Endocrinol Metab
; 25(11-12): 1153-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23329763
8.
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
J Pediatr Endocrinol Metab
; 25(5-6): 419-26, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876533
9.
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
PLoS One
; 17(5): e0265400, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613087
10.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Clin Endocrinol (Oxf)
; 73(5): 671-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20718767
11.
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Turk J Pediatr
; 51(2): 161-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19480328
12.
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
J Pediatr Endocrinol Metab
; 26(1-2): 191, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23457319
13.
Association of urokinase gene 3'-UTR T/C polymorphism with calcium oxalate urolithiasis in children.
Int Urol Nephrol
; 40(3): 563-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18240004
14.
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
JCI Insight
; 3(20)2018 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30333321
15.
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
J Clin Endocrinol Metab
; 102(9): 3085-3090, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633507
16.
Puberty, stress, and sudden death.
Lancet
; 376(9751): 1512, 2010 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21036276
17.
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
J Clin Endocrinol Metab
; 101(12): 4521-4531, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27525530
18.
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
J Clin Res Pediatr Endocrinol
; 7(4): 323-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26777044
19.
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.
J Pediatr Genet
; 4(4): 194-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617131
20.
The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
J Clin Res Pediatr Endocrinol
; 7(3): 238-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26831560