Detalles de la búsqueda
1.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet;
105(6): 655-660, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38384171
2.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Am J Med Genet A;
188(7): 2129-2134, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266289
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35682590
4.
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
Int J Mol Sci;
21(22)2020 Nov 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33187293
5.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics;
20(3): 145-154, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31209758
6.
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.
Hum Genet;
138(7): 739-748, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31154530
7.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Int J Mol Sci;
20(15)2019 Jul 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-31344879
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26486927
9.
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
J Hum Genet;
61(4): 283-93, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26657932
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25339188
11.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet;
7(7): e1002173, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21779178
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37529781
13.
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Clin Epigenetics;
14(1): 43, 2022 03 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35317853
14.
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Disabil Rehabil;
44(18): 4966-4973, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34010585
15.
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
J Bone Miner Res;
37(3): 465-474, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34897794
16.
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.
Psychiatry Res;
185(1-2): 33-8, 2011 Jan 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-20609483
17.
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Front Neurol;
12: 793547, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35069422
18.
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Ann Clin Transl Neurol;
7(5): 855-859, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32315120
19.
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Eur J Hum Genet;
28(10): 1432-1445, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32514133
20.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Front Genet;
10: 955, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31749829