| 1 |
Genitopatellar Syndrome Secondary to De NovoKAT6B Mutation: The First Genetically Confirmed Case in South Korea.
25
|
Kim BR...Eun HS
|
30900427 |
2019 |
| 2 |
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
25
|
Lonardo F...Scarano G
|
28857140 |
2019 |
| 3 |
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
25
|
Yates TM...Johnson DS
|
30353918 |
2019 |
| 4 |
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
25
|
Herriges JC...Lamb AN
|
31131026 |
2019 |
| 5 |
Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association.
25
|
Knight S...Murphy AJ
|
30084242 |
2018 |
| 6 |
Genitopatellar syndrome: the first reported case in Japan.
25
|
Okano S...Makita Y
|
29899993 |
2018 |
| 7 |
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
25
|
Bashir RA...Au PB
|
28696035 |
2017 |
| 8 |
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
25
|
Preiksaitiene E...Kucinskas V
|
27880066 |
2017 |
| 9 |
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family.
25
|
Kim YR...Kim HJ
|
28758091 |
2017 |
| 10 |
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
25
|
Niida Y...Kato A
|
27696664 |
2017 |
| 11 |
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
25
|
Radvanszky J...Szemes T
|
27452416 |
2017 |
| 12 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
| 13 |
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
25
|
Yilmaz R...Borck G
|
26334766 |
2015 |
| 14 |
Further delineation of the KAT6B molecular and phenotypic spectrum.
25
|
Gannon T...Clayton-Smith J
|
25424711 |
2015 |
| 15 |
MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease.
25
|
Yang XJ
|
25920810 |
2015 |
| 16 |
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
25
|
Szakszon K...Borck G
|
23436491 |
2013 |
| 17 |
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
25
|
Campeau PM...Lee BH
|
22715153 |
2012 |
| 18 |
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
25
|
Martinez FJ...Gleeson JG
|
22577224 |
2012 |
| 19 |
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
25
|
Campeau PM...Lee BH
|
22265014 |
2012 |
| 20 |
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
25
|
Simpson MA...Trembath RC
|
22265017 |
2012 |
| 21 |
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
25
|
Clayton-Smith J...Black G
|
22077973 |
2011 |
| 22 |
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
25
|
Kraft M...Thiel CT
|
21804188 |
2011 |
| 23 |
ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation.
25
|
Doyon Y...Cote J
|
16387653 |
2006 |
| 24 |
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
25
|
White SM...Savarirayan R
|
12868473 |
2003 |
| 25 |
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.
25
|
Cormier-Daire V...Le Merrer M
|
10882755 |
2000 |
| 26 |
Vertical transmission of the Ohdo blepharophimosis syndrome.
25
|
Mhanni AA...Chudley AE
|
9605288 |
1998 |
| 27 |
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.
25
|
Tsukahara M...Opitz JM
|
8723121 |
1996 |
| 28 |
The Ohdo blepharophimosis syndrome: a third case.
25
|
Biesecker LG
|
2002485 |
1991 |
| 29 |
Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
25
|
Young ID...Simpson K
|
3430551 |
1987 |
| 30 |
Mental retardation with blepharophimosis.
25
|
Say B...Barber N
|
3656379 |
1987 |
| 31 |
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.
25
|
Ohdo S...Hayakawa K
|
3723552 |
1986 |
| 32 |
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
61
|
Li C...Campeau PM
|
33340455 |
2021 |
| 33 |
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
61
|
Zhang LX...Campeau PM
|
32424177 |
2020 |
| 34 |
KAT6B Disorders
61
|
Lemire G...Lee BH
|
23236640 |
2012 |
