Detalhe da pesquisa
1.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
2.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
3.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806792
4.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927
5.
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Am J Med Genet A
; 167A(1): 221-30, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339188
6.
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
BMC Med Genet
; 15: 52, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886451
7.
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet
; 15: 1358334, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544803
8.
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Am J Med Genet A
; 161A(3): 611-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23341071
9.
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
Front Genet
; 14: 1198821, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529781
10.
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Eur J Hum Genet
; 30(11): 1233-1238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821519
11.
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Ann Clin Transl Neurol
; 7(5): 855-859, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32315120
12.
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Front Neurol
; 11: 631, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793091
13.
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Mol Genet Genomic Med
; 8(9): e1386, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627967
14.
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Stem Cell Res
; 40: 101553, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491690
15.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Front Genet
; 10: 955, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749829
16.
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aâ¯>â¯T, p.(Lys1277*).
Stem Cell Res
; 30: 175-179, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29944992
17.
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Mol Cytogenet
; 8: 20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25838844
18.
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Sci Rep
; 5: 15454, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482194
19.
Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.
Eur J Endocrinol
; 173(1): 111-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25916393
20.
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
Mol Cytogenet
; 6(1): 45, 2013 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24171812