Detalhe da pesquisa
1.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616059
2.
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
Hum Mutat
; 42(7): 827-834, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942450
3.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941880
4.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
5.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279304
6.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney Int
; 93(4): 961-967, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398133
7.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
8.
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Nephrol Dial Transplant
; 32(5): 830-837, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27387476
9.
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
J Med Genet
; 53(12): 820-827, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27439707
10.
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
J Med Genet
; 53(11): 776-785, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27334370
11.
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Am J Med Genet A
; 170(11): 2927-2933, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27333055
12.
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Am J Hum Genet
; 90(1): 119-24, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22197486
13.
A second case of Okamoto syndrome caused by HNRNPK mutation.
Am J Med Genet A
; 182(6): 1537-1539, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222014
14.
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Am J Med Genet A
; 167A(10): 2231-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26079862
15.
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
Am J Med Genet A
; 167(7): 1483-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755104
16.
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Am J Med Genet A
; 164A(5): 1289-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664873
17.
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Gene
; : 148625, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38830515
18.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Neurology
; 100(12): e1234-e1247, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599696
19.
Consumption of vitamin D-and calcium-fortified soft white cheese lowers the biochemical marker of bone resorption TRAP 5b in postmenopausal women at moderate risk of osteoporosis fracture.
J Nutr
; 142(4): 698-703, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357739
20.
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Front Endocrinol (Lausanne)
; 13: 928284, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846276