Detalhe da pesquisa
1.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32413283
2.
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
Clin Genet
; 91(1): 115-120, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26891472
3.
ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1870(3): 166991, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38128843
4.
Building a brain in the gut: development of the enteric nervous system.
Clin Genet
; 83(4): 307-16, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23167617
5.
Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations.
Prenat Diagn
; 37(13): 1360-1363, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29149523
6.
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
J Med Genet
; 48(5): 334-42, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21378379
7.
Haplotype sharing test maps genes for familial cardiomyopathies.
Clin Genet
; 79(5): 459-67, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20573160
8.
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.
Br J Cancer
; 103(12): 1840-5, 2010 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-21081928
9.
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.
Br J Cancer
; 102(2): 447-54, 2010 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-19920828
10.
Fine mapping of the 9q31 Hirschsprung's disease locus.
Hum Genet
; 127(6): 675-83, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20361209
11.
Medullary thyroid carcinoma and biomarkers: past, present and future.
J Intern Med
; 266(1): 126-40, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19522831
12.
Hirschsprung disease, associated syndromes and genetics: a review.
J Med Genet
; 45(1): 1-14, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17965226
13.
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.
Fam Cancer
; 17(3): 361-370, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28933000
14.
MEIS and PBX homeobox proteins in ovarian cancer.
Eur J Cancer
; 43(17): 2495-505, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17949970
15.
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
J Med Genet
; 43(7): e35, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16816022
16.
NDRG4, an early detection marker for colorectal cancer, is specifically expressed in enteric neurons.
Neurogastroenterol Motil
; 29(9)2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28524415
17.
Cellular effects of imatinib on medullary thyroid cancer cells harboring multiple endocrine neoplasia Type 2A and 2B associated RET mutations.
Surgery
; 139(6): 806-14, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16782438
18.
[Prophylactic thyroidectomy in children who are carriers of a multiple endocrine neoplasia type 2 mutation: description of 20 cases and recommendations based on the literature]. / Profylactische thyreoïdectomie bij kinderen die drager zijn van een mutatie van multipele endocriene neoplasie type 2: beschrijving van 20 casussen en aanbevelingen op grond van de literatuur.
Ned Tijdschr Geneeskd
; 150(6): 311-8, 2006 Feb 11.
Artigo
Holandês
| MEDLINE | ID: mdl-16503023
19.
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
J Med Genet
; 41(9): 664-8, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15342696
20.
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
Am J Med Genet
; 112(4): 390-3, 2002 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12376942