Detalhe da pesquisa
1.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261175
2.
Investigation of SHANK3 in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 390-398, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371232
3.
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
Basic Res Cardiol
; 111(3): 36, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138930
4.
Identification of novel genes including NAV2 associated with isolated tall stature.
Front Endocrinol (Lausanne)
; 14: 1258313, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152138
5.
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Genes (Basel)
; 12(12)2021 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946811
6.
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Front Endocrinol (Lausanne)
; 12: 660731, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194391
7.
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Horm Res Paediatr
; 93(1): 16-29, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428920
8.
Evaluation of the bioaccumulation of octocrylene after dietary and aqueous exposure.
Sci Total Environ
; 672: 669-679, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30974358
9.
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Front Genet
; 10: 648, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31354791
10.
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.
Eur J Hum Genet
; 26(8): 1113-1120, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706635
11.
Compartment syndrome of the lower leg after punch biopsy.
Dermatol Surg
; 38(2): 277-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22288936
12.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
EMBO Mol Med
; 8(12): 1455-1469, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861128
13.
The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions.
J Pediatr Endocrinol Metab
; 15 Suppl 5: 1295-300, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12510983
14.
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Nat Genet
; 42(6): 489-91, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20473310
15.
BNP is a transcriptional target of the short stature homeobox gene SHOX.
Hum Mol Genet
; 16(24): 3081-7, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17881654
16.
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
Hum Mol Genet
; 16(2): 210-22, 2007 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200153
17.
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.
Genome Res
; 15(2): 195-204, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15653831
18.
Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome.
Hum Genet
; 114(2): 173-81, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14579146