Meckel Syndrome Latest Advances

Find the Latest Research About Meckel Syndrome

Last Updated: 04/28/2026

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Found 120 publications

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Journal: Nigerian medical journal : journal of the Nigeria Medical Association
Published: October 31, 2025

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

Journal: Genesis (New York, N.Y. : 2000)
Published: June 24, 2025

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Journal: Clinical genetics
Published: May 28, 2025

Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Journal: Genes
Published: May 07, 2025

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

Journal: The Pan African medical journal
Published: April 15, 2025

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Journal: Clinical genetics
Published: March 21, 2025

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Journal: Clinical genetics
Published: November 10, 2024

A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.

A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.

Journal: Fetal and pediatric pathology
Published: October 16, 2024

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Journal: Nature communications
Published: September 16, 2024

New functions of B9D2 in tight junctions and epithelial polarity.

New functions of B9D2 in tight junctions and epithelial polarity.

Journal: Scientific reports
Published: July 09, 2024

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Journal: Journal of human genetics
Published: June 07, 2024

Regulation of INPP5E in Ciliogenesis, Development, and Disease.

Regulation of INPP5E in Ciliogenesis, Development, and Disease.

Journal: International journal of biological sciences
Published: May 29, 2024
Showing 1-12 of 120

Last Updated: 04/28/2026