Results 91 to 100 of about 2,580 (168)

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations. [PDF]

Heliyon, 2023
Yi S, Zhang X, Yang Q, Huang J, Zhou X, Qian J, Pan P, Yi S, Zhang S, Zhang Q, Tang X, Huang L, Zhang Q, Qin Z, Luo J.   +14 more
europepmc   +1 more source

Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations. [PDF]

Acta Neuropsychiatr
Biondi TF, Massironi SMG, Bondan EF, Kirsten TB.   +3 more
europepmc   +1 more source

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons. [PDF]

PLoS Genet
Cuvertino S, Martirosian E, Bhosale K, Cheng P, Garner T, Donaldson IJ, Jackson A, Stevens A, Sharrocks AD, Kimber SJ, Banka S.   +10 more
europepmc   +1 more source

Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry. [PDF]

Orphanet J Rare Dis
Reynolds L, Williams B, Gurumurthy G, Grainger J.   +3 more
europepmc   +1 more source

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2. [PDF]

Epilepsia
Privitera F, Meossi C, Santorelli FM, Bartolini E.   +3 more
europepmc   +1 more source

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1. [PDF]

PLoS Genet
Gao CW, Lin W, Riddle RC, Chopra S, Kim J, Boukas L, Hansen KD, Björnsson HT, Fahrner JA.   +8 more
europepmc   +1 more source

Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation. [PDF]

Front Pediatr
Ba X, Yang X, Zhang Y, Guo F, Zhu L, Tong R, Yang Y, Qian Y, Zhang H.   +8 more
europepmc   +1 more source

Giant ascending aortic aneurysm in a 2-year-old child with Kabuki syndrome: A rare cardiovascular pathology and successful surgical repair. [PDF]

Ann Pediatr Cardiol
Erden D, Polat AB.
europepmc   +1 more source

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature. [PDF]

Clin Epigenetics
Sabbagh Q, Ruiz-Pallares N, Rastin C, Puechberty J, Guignard T, Jeandel C, Merklen F, Pujol P, Kerkhof J, Sadikovic B, Barat-Houari M, Geneviève D.   +11 more
europepmc   +1 more source

Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE). [PDF]

Cureus
Hashem A, Ourfahli NK, Mohamadiyeh AM, Khalouf A, Adra S.   +4 more
europepmc   +1 more source