Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Novel genes and sex differences in COVID-19 severity.
Hum Mol Genet
; 31(22): 3789-3806, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708486
3.
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet
; 105(2): 140-149, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904618
4.
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.
Am J Respir Cell Mol Biol
; 69(2): 147-158, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917789
5.
Adult experiences in Beckwith-Wiedemann syndrome.
Am J Med Genet C Semin Med Genet
; 193(2): 116-127, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163416
6.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Eur Respir J
; 61(2)2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302552
7.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Genet Med
; 25(11): 100925, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422716
8.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Clin Genet
; 104(6): 637-647, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37702321
9.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Am J Med Genet A
; 191(1): 100-107, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308343
10.
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Am J Respir Crit Care Med
; 206(12): 1522-1533, 2022 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852389
11.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908153
12.
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Int J Mol Sci
; 23(18)2022 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142358
13.
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.
Am J Med Genet C Semin Med Genet
; 187(2): 186-191, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998134
14.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Clin Genet
; 100(4): 405-411, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196401
15.
Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.
Genes (Basel)
; 14(8)2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628679
16.
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.
Genes (Basel)
; 14(10)2023 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895227
17.
Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension.
Rev Esp Cardiol (Engl Ed)
; 76(6): 460-467, 2023 Jun.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36403940
18.
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Genes (Basel)
; 14(11)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003033
19.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372360
20.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Genes (Basel)
; 14(10)2023 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895315