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1.
Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.
Gastroenterology
; 152(5): 1139-1150.e4, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28063956
2.
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Hum Mutat
; 38(5): 581-593, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28236341
3.
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Hum Mol Genet
; 24(17): 4933-47, 2015 Sep 01.
Article
in English
| MEDLINE | ID: mdl-26060192
4.
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease.
Hum Mutat
; 35(3): 303-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24357527
5.
Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.
Haematologica
; 98(2): 305-8, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-22801970
6.
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Mol Genet Genomic Med
; 9(11): e1645, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34582124
7.
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.
Am J Med Genet A
; 152A(7): 1711-7, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20578134
8.
DNA immobilisation procedures for surface plasmon resonance imaging (SPRI) based microarray systems.
Biosens Bioelectron
; 22(6): 803-9, 2007 Jan 15.
Article
in English
| MEDLINE | ID: mdl-16621508
9.
FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder.
Cancer Res
; 63(23): 8108-12, 2003 Dec 01.
Article
in English
| MEDLINE | ID: mdl-14678961
10.
Aortic wall alterations after use of gelatin-resorcinol-formalin glue.
Ann Thorac Surg
; 73(2): 642-4, 2002 Feb.
Article
in English
| MEDLINE | ID: mdl-11845891
11.
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
Eur J Hum Genet
; 20(9): 990-4, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22378281
12.
Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.
Eur J Med Genet
; 55(12): 737-42, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23017438
13.
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
Eur J Hum Genet
; 18(8): 882-8, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20424646
14.
Human urinary bladder transitional cell carcinomas acquire the functional Fas ligand during tumor progression.
Am J Pathol
; 162(4): 1139-49, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12651606
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