Detalhe da pesquisa
1.
What is new about the genetic background of Hirschsprung disease?
Clin Genet
; 97(1): 114-124, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31355911
2.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702942
3.
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Am J Hum Genet
; 96(4): 581-96, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839327
4.
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
Am J Med Genet A
; 170A(5): 1268-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762557
5.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Dev Biol
; 382(1): 320-9, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707863
6.
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
Am J Med Genet A
; 164A(2): 542-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311220
7.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Am J Hum Genet
; 87(1): 60-74, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598273
8.
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Am J Med Genet A
; 158A(4): 816-20, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22344793
9.
Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.
J Pediatr Endocrinol Metab
; 35(10): 1306-1308, 2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932482
10.
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
BMC Med Genet
; 12: 138, 2011 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21995290
11.
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
BMC Med Genet
; 11: 71, 2010 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459765
12.
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
BMC Med Genet
; 11: 137, 2010 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20860806
13.
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
BMC Med Genet
; 10: 119, 2009 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19925665
14.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Neuromuscul Disord
; 28(3): 208-215, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29433793
15.
A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.
Pediatr Dev Pathol
; 20(1): 28-37, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276298
16.
Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma.
Thyroid
; 16(4): 411-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16646689
17.
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
Clin Case Rep
; 4(9): 879-84, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648268
18.
Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.
Biomed Res Int
; 2015: 406096, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258137
19.
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
Biomed Res Int
; 2015: 965839, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26713318
20.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
BMC Med Genomics
; 8: 83, 2015 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690675