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1.
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.
Exp Dermatol
; 23(1): 60-3, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24372652
2.
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
Hum Mol Genet
; 18(12): 2266-76, 2009 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19336474
3.
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
Hum Mutat
; 31(2): E1146-62, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20020530
4.
Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology.
Prenat Diagn
; 32(5): 498-500, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22495968
5.
Molecular insights into the possible role of Kir4.1 and Kir5.1 in thyroid hormone biosynthesis.
Horm Res Paediatr
; 83(2): 141-7, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25612510
6.
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
J Pediatr Endocrinol Metab
; 28(7-8): 777-84, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25153578
7.
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.
Thyroid
; 24(4): 649-54, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24219130
8.
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
J Invest Dermatol
; 132(3 Pt 1): 575-82, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22089833
9.
Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development.
PLoS One
; 6(2): e16752, 2011 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-21364918
10.
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
Eur J Endocrinol
; 164(2): 309-14, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21098685
11.
New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.
Thyroid
; 20(6): 639-45, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20553196
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