4.5 Article

KDM6A Point Mutations Cause Kabuki Syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Cell Biology

Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A

Toru Sengoku et al.

GENES & DEVELOPMENT (2011)

Letter Obstetrics & Gynecology

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

Sebastiano Bianca et al.

FERTILITY AND STERILITY (2009)

Article Genetics & Heredity

A Small and Active Ring X Chromosome in a Female With Features of Kabuki Syndrome

L. Rodriguez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Multidisciplinary Sciences

Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination

Min Gyu Lee et al.

SCIENCE (2007)

Review Genetics & Heredity

Kabuki make-up syndrome: A review

N Matsumoto et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2003)

Article Genetics & Heredity

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

P Stankiewicz et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2001)