Detalhe da pesquisa
1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981053
2.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
3.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet
; 17(8): e1009698, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358225
4.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
5.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
6.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
7.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
8.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
9.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249554
10.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Int J Mol Sci
; 22(22)2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830235
11.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939943
12.
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Am J Med Genet A
; 182(1): 53-63, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729827
13.
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
14.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
15.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
16.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Gastroenterology
; 155(1): 118-129.e6, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601828
17.
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
18.
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
J Am Soc Nephrol
; 28(11): 3291-3299, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710092
19.
Genetics of enteric neuropathies.
Dev Biol
; 417(2): 198-208, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426273
20.
Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.
Hum Reprod
; 32(2): 299-306, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057877