Detalhe da pesquisa
1.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
2.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genet Med
; 22(3): 547-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649276
3.
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenat Diagn
; 40(10): 1300-1309, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627857
4.
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Proc Natl Acad Sci U S A
; 114(13): E2739-E2747, 2017 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28292896
5.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Gastroenterology
; 155(1): 130-143.e15, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604290
6.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
7.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647307
8.
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
9.
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
10.
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Am J Hum Genet
; 97(3): 475-82, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299364
11.
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.
Biochim Biophys Acta
; 1852(11): 2352-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26282049
12.
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
13.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology
; 142(3): 453-462.e3, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22155368
14.
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
Genet Med
; 15(4): 310-3, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23037936
15.
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Genet Med
; 15(3): 195-202, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22995989
16.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
17.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Invest Ophthalmol Vis Sci
; 60(13): 4249-4256, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31618761
18.
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
Eur J Hum Genet
; 16(6): 673-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18231121
19.
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Am J Med Genet A
; 146A(1): 43-50, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074359
20.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Invest Ophthalmol Vis Sci
; 59(8): 3220-3231, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971439