Miller Syndrome Latest Advances

Find the Latest Research About Miller Syndrome

Last Updated: 02/24/2026

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Found 289 publications

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Journal: European journal of pediatrics
Published: October 28, 2025

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Journal: Genes
Published: October 16, 2025

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 22, 2025

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Journal: Familial cancer
Published: June 04, 2025

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Journal: Molecular genetics & genomic medicine
Published: April 30, 2025

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Journal: Cancer genetics
Published: February 27, 2025

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.

Journal: Clinical case reports
Published: December 30, 2024

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Journal: Acta biochimica et biophysica Sinica
Published: November 20, 2024

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Journal: Retinal cases & brief reports
Published: November 12, 2024

Systematic phenotype and genotype characterization of Moebius syndrome.

Systematic phenotype and genotype characterization of Moebius syndrome.

Journal: Genetics in medicine open
Published: November 05, 2024

Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene

Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 30, 2024

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Journal: Frontiers in medicine
Published: September 24, 2024
Showing 1-12 of 289

Last Updated: 02/24/2026