Search details
1.
miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea.
Gut
; 66(9): 1537-1538, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28082316
2.
Investigation of SHANK3 in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 390-398, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28371232
3.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Am J Hum Genet
; 90(5): 879-87, 2012 May 04.
Article
in English
| MEDLINE | ID: mdl-22503632
4.
Identification of novel genes including NAV2 associated with isolated tall stature.
Front Endocrinol (Lausanne)
; 14: 1258313, 2023.
Article
in English
| MEDLINE | ID: mdl-38152138
5.
Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.
Front Genet
; 12: 688808, 2021.
Article
in English
| MEDLINE | ID: mdl-34122528
6.
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Genes (Basel)
; 12(12)2021 11 24.
Article
in English
| MEDLINE | ID: mdl-34946811
7.
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Front Endocrinol (Lausanne)
; 12: 660731, 2021.
Article
in English
| MEDLINE | ID: mdl-34194391
8.
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.
Article
in English
| MEDLINE | ID: mdl-32428920
9.
Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
Can J Gastroenterol Hepatol
; 2019: 1085717, 2019.
Article
in English
| MEDLINE | ID: mdl-31886153
10.
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Front Genet
; 10: 648, 2019.
Article
in English
| MEDLINE | ID: mdl-31354791
11.
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
J Med Genet
; 44(5): 306-13, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17182655
12.
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.
Article
in English
| MEDLINE | ID: mdl-29706635
13.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
EMBO Mol Med
; 8(12): 1455-1469, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27861128
14.
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Circulation
; 108(23): 2843-50, 2003 Dec 09.
Article
in English
| MEDLINE | ID: mdl-14638541
15.
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
BMC Med Genet
; 6: 20, 2005 May 12.
Article
in English
| MEDLINE | ID: mdl-15890066
16.
The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures.
PLoS One
; 7(9): e45369, 2012.
Article
in English
| MEDLINE | ID: mdl-23028966
17.
Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.
PLoS One
; 6(3): e18115, 2011 Mar 23.
Article
in English
| MEDLINE | ID: mdl-21448463
18.
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Nat Genet
; 42(6): 489-91, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20473310
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