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Last Updated: 06/27/2025

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Found 767 publications

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome.

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome.

Journal: medRxiv : the preprint server for health sciences
Published: June 10, 2025

Roles and regulation of δ-catenin in tumorigenesis and neuronal diseases.

Roles and regulation of δ-catenin in tumorigenesis and neuronal diseases.

Journal: Frontiers in cell and developmental biology
Published: January 16, 2025

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.

Journal: Frontiers in genetics
Published: December 24, 2024

Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.

Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: November 19, 2024

Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

Journal: Children (Basel, Switzerland)
Published: October 01, 2024

Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.

Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.

Journal: International journal of molecular sciences
Published: September 06, 2024

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Journal: Heliyon
Published: August 24, 2024

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

Journal: European journal of pediatrics
Published: July 20, 2024

Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

Journal: The Laryngoscope
Published: July 02, 2024

Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.

Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.

Journal: Human cell
Published: July 01, 2024

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Journal: Frontiers in genetics
Published: June 19, 2024

Pharmacological tightrope: risperidone's balancing act in cri du chat syndrome.

Pharmacological tightrope: risperidone's balancing act in cri du chat syndrome.

Journal: Discover mental health
Published: June 14, 2024
Showing 1-12 of 767

Last Updated: 06/27/2025