Detalhe da pesquisa
1.
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Nephrol Dial Transplant
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178635
2.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics
; 54(1): 31-36, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36126956
3.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Int J Mol Sci
; 23(8)2022 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457051
4.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Neurogenetics
; 22(4): 343-346, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296368
5.
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Am J Med Genet A
; 185(2): 591-595, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305890
6.
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.
Prenat Diagn
; 39(6): 415-419, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30900264
7.
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Ann Hum Genet
; 82(6): 425-436, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014477
8.
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.
J Paediatr Child Health
; 57(8): 1305-1307, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185949
9.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Pediatr Neurol
; 155: 8-17, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569228
10.
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
J Pediatr Genet
; 12(3): 254-257, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575653
11.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Front Genet
; 13: 993064, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246631
12.
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Genes (Basel)
; 13(10)2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292720
13.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Genes (Basel)
; 13(9)2022 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140775
14.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Eur J Med Genet
; 65(8): 104539, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705147
15.
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Am J Med Genet A
; 170A(2): 544-546, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26487424
16.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Amyotroph Lateral Scler Frontotemporal Degener
; 22(7-8): 552-560, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009082
17.
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Genes (Basel)
; 12(4)2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921431
18.
[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy]. / Neuropatía óptica de Leber: utilidad de la secuenciación masiva en el estudio de mutaciones mitocondriales en aparente homoplasmia.
Med Clin (Barc)
; 146(4): 163-6, 2016 Feb 19.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26683077