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
em Inglês
| MEDLINE | ID: mdl-32413283
2.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
3.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
4.
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
5.
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Am J Med Genet A
; 164A(7): 1821-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715367
6.
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
7.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
J Pediatr
; 163(3): 742-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535010
8.
Segregation at three loci explains familial and population risk in Hirschsprung disease.
Nat Genet
; 31(1): 89-93, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11953745
9.
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Proc Natl Acad Sci U S A
; 106(33): 13921-6, 2009 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19666486
10.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33497358
11.
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Hum Mutat
; 30(5): 771-5, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19306335
12.
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
Eur J Hum Genet
; 15(2): 242-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17091122
13.
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome Biol
; 18(1): 48, 2017 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28274275
14.
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
Eur J Hum Genet
; 21(4): 460-4, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22909775
15.
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.
PLoS One
; 8(5): e62519, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23671607
16.
Finger creases lend a hand in Kabuki syndrome.
Eur J Med Genet
; 56(10): 556-60, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933090
17.
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Eur J Hum Genet
; 20(9): 917-20, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22395866
18.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Nat Genet
; 41(3): 359-64, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19234473
19.
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
Eur J Hum Genet
; 17(4): 454-66, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19002211
20.
Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.
Acta Paediatr
; 95(9): 1140-3, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16938764