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.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
3.
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
4.
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
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.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Am J Hum Genet
; 107(5): 989-999, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053334
7.
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
8.
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
9.
Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.
Haemophilia
; 29(3): 844-854, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930806
10.
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.
J Med Genet
; 59(3): 253-261, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579810
11.
Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus-Infected Recipients of Long-term Antiretroviral Treatment.
J Infect Dis
; 225(2): 287-294, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34166509
12.
Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.
Exp Eye Res
; 224: 109211, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35985532
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.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Genet Med
; 23(4): 679-688, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442026
15.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Hum Mutat
; 41(1): 265-276, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549748
16.
A six-attribute classification of genetic mosaicism.
Genet Med
; 22(11): 1743-1757, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661356
17.
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
Clin Genet
; 97(6): 857-868, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32166738
18.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Clin Genet
; 97(3): 467-476, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31972898
19.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
20.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Am J Med Genet A
; 182(1): 257-267, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769173