Gaucher disease: considerations in prenatal diagnosis

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.

Molecular genetics and metabolism·2011

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

American journal of medical genetics. Part A·2008

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Journal of inherited metabolic disease·2008

Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells.

Journal of cellular biochemistry·2008

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

Clinical genetics·2007

Prosaposin is a novel androgen-regulated gene in prostate cancer cell line LNCaP.

Journal of cellular biochemistry·2006

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Prenatal diagnosis·2026

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Prenatal diagnosis·2026

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

Prenatal diagnosis·2026

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Prenatal diagnosis·2026

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Prenatal diagnosis·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences·2026

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

International journal of molecular sciences·2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

Cells·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Related Experiment Videos

Gaucher disease: considerations in prenatal diagnosis

Related Concept Videos

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells.

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

Prosaposin is a novel androgen-regulated gene in prostate cancer cell line LNCaP.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Related Experiment Videos

Gaucher disease: considerations in prenatal diagnosis

Related Concept Videos

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