Jose M. Rosales-Lezana - Publications

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Journal: Journal of clinical immunology

Published: January 19, 2025

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: August 14, 2023

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Journal: Genes

Published: June 25, 2023

Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.

Journal: Seizure

Published: May 05, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Journal: Neuropediatrics

Published: September 20, 2022

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Journal: Genes

Published: August 01, 2022

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Journal: International journal of molecular sciences

Published: March 15, 2022

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Journal: European journal of medical genetics

Published: October 24, 2021

Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.

Journal: Journal of Alzheimer's disease : JAD

Published: August 30, 2021

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: May 19, 2021

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Journal: Neurogenetics

Published: April 03, 2021