Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Expanding the clinical and molecular spectrum of FOXG1- and ZBTB18-associated neurodevelopmental disorders.
Cytogenet Genome Res
; 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056433
3.
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Am J Med Genet A
; 179(2): 290-294, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569622
4.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851191
5.
Health care and societal costs of the management of children and adolescents with attention-deficit/hyperactivity disorder in Spain: a descriptive analysis.
BMC Psychiatry
; 18(1): 40, 2018 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422022
6.
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
Am J Med Genet A
; 167(6): 1369-73, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898976
7.
A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
Am J Med Genet A
; 167(6): 1315-22, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847113
8.
Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
Am J Med Genet A
; 167A(12): 3113-20, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284580
9.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism Relat Disord
; 80: 165-174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022436
10.
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. / Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT.
Med Clin (Barc)
; 133(19): 745-9, 2009 Nov 21.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19892372
11.
[Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients]. / Hemiplejía alternante de la infancia en la población española. Estudio de una serie de 17 pacientes.
Med Clin (Barc)
; 130(15): 577-9, 2008 Apr 26.
Artigo
em Espanhol
| MEDLINE | ID: mdl-18462636
12.
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Gene
; 626: 189-199, 2017 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28506748
13.
A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.
Clin Case Rep
; 3(6): 415-23, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185640
14.
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. / Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes.
Med Clin (Barc)
; 143(1): 25-8, 2014 Jul 07.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24768197
15.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Orphanet J Rare Dis
; 9: 59, 2014 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24767253
16.
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
PLoS One
; 6(4): e18348, 2011 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21526175
17.
Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes / Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients
Med. clín (Ed. impr.)
; 143(1): 25-28, jul. 2014. tab
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-123800
18.
Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome.
Acta Paediatr
; 95(11): 1510-1, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17062489
19.
Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT / Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene
Med. clín (Ed. impr.)
; 133(19): 745-749, nov. 2009. tab, ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-83838
20.
Hemiplejía alternante de la infancia en la población española. Estudio de una serie de 17 pacientes / Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients
Med. clín (Ed. impr.)
; 130(15): 577-579, abr. 2008. tab
Artigo
em Es
| IBECS (Espanha) | ID: ibc-65228