Detalhe da pesquisa
1.
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
2.
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Br J Psychiatry
; 212(5): 287-294, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29693535
3.
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.
Behav Genet
; 48(4): 323-336, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882083
4.
Factor Structure of the Spanish Version of the Edinburgh Postnatal Depression Scale.
Actas Esp Psiquiatr
; 46(5): 174-82, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30338774
5.
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
BMC Med Genet
; 18(1): 137, 2017 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162042
6.
Paternal transmission of a FMR1 full mutation allele.
Am J Med Genet A
; 173(10): 2795-2797, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815939
7.
A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.
Cytogenet Genome Res
; 146(2): 109-14, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26280689
8.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
BMC Med Genet
; 16: 61, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285866
9.
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Clin Epigenetics
; 16(1): 62, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715103
10.
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.
Hum Mutat
; 34(4): 595-602, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335487
11.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat
; 34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936364
12.
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Genes (Basel)
; 14(3)2023 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980980
13.
Decline of Sperm Quality over the Last Two Decades in the South of Europe: A Retrospective Study in Infertile Patients.
Biology (Basel)
; 12(1)2022 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36671762
14.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
J Mol Diagn
; 24(5): 529-542, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35569879
15.
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
Front Neurosci
; 15: 618098, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34121983
16.
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
PLoS One
; 16(10): e0258766, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653234
17.
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Genes (Basel)
; 11(1)2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31906484
18.
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
BMC Med Genet
; 10: 144, 2009 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20030804
19.
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
Am J Med Genet A
; 149A(3): 343-8, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19213023
20.
[Prader Willi syndrome patients: study of 77 patients]. / Síndrome de Prader Willi: estudio de 77 pacientes.
Med Clin (Barc)
; 133(17): 649-56, 2009 Nov 07.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19748638