Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
3.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
4.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
5.
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Pediatr Res
; 87(3): 541-549, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31499513
6.
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Ann Neurol
; 84(2): 200-207, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014507
7.
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
8.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Am J Med Genet A
; 173(11): 3022-3028, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941052
9.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Eur Heart J
; 37(23): 1815-22, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497160
10.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med
; 369(16): 1529-36, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088043
11.
AGORA, a data- and biobank for birth defects and childhood cancer.
Birth Defects Res A Clin Mol Teratol
; 106(8): 675-84, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27150573
12.
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.
Eur J Pediatr
; 175(4): 489-97, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498647
13.
Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.
Eur J Pediatr
; 174(5): 583-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25319845
14.
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Birth Defects Res C Embryo Today
; 102(4): 382-400, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25546370
15.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney Int
; 85(6): 1310-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24152966
16.
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Am J Med Genet A
; 164A(7): 1627-34, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24677454
17.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Birth Defects Res A Clin Mol Teratol
; 100(6): 483-92, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24841934
18.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Hum Mutat
; 34(12): 1721-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123792
19.
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
Hum Mol Genet
; 20(21): 4175-86, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21831885
20.
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Eur Heart J
; 32(9): 1161-70, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459882