Detalhe da pesquisa
1.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
2.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120103
3.
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
Int J Mol Sci
; 18(3)2017 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241484
4.
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Am J Med Genet C Semin Med Genet
; 172(2): 198-205, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164022
5.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655089
6.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
7.
∆4-3-oxo-5ß-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Orphanet J Rare Dis
; 18(1): 383, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062451
8.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Biomed Res Int
; 2016: 8742939, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26925417
9.
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Eur J Med Genet
; 57(9): 503-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24874887
10.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Eur J Med Genet
; 56(8): 411-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751782
11.
Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida / Colombian Guidelines for Diagnosis of Lipase Acid Deficiency
Rev. colomb. gastroenterol
; 32(4): 358-368, 2017. tab, graf
Artigo
em Espanhol
| LILACS | ID: biblio-900714
12.
Clinical utility gene card for: Cornelia de Lange syndrome.
Eur J Hum Genet
; 23(10)2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537356