Lorena Maria-Santa

Temple Syndrome Is a Frequent Differential Diagnosis of Silver-Russell Syndrome, but Infrequently Suspected in Chile.

Journal: American journal of medical genetics. Part A

Published: October 07, 2025

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.

Journal: Frontiers in genetics

Published: July 25, 2025

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.

Journal: Orphanet journal of rare diseases

Published: March 28, 2024

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 21, 2022

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Journal: American journal of medical genetics. Part A

Published: June 15, 2022

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

Journal: Research in developmental disabilities

Published: February 09, 2022

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Journal: JAMA network open

Published: January 04, 2022

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.

Journal: Scientific reports

Published: April 09, 2020

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Journal: Molecular autism

Published: January 30, 2019

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Journal: JIMD reports

Published: July 11, 2017

Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

Journal: Revista medica de Chile

Published: April 26, 2017

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.

Journal: Molecular syndromology

Published: June 29, 2016

Temple Syndrome Is a Frequent Differential Diagnosis of Silver-Russell Syndrome, but Infrequently Suspected in Chile.

Temple Syndrome Is a Frequent Differential Diagnosis of Silver-Russell Syndrome, but Infrequently Suspected in Chile.

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.

Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.