The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms (Q34282844)

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English	The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms	scientific article

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms (English)

1 reference

Europe PubMed Central

1 August 2017

Genitopatellar syndrome

1 reference

based on heuristic

inferred from title

Stephen Robertson

object named as

Stephen P Robertson

5

0 references

Philippe M. Campeau

object named as

Philippe M Campeau

1

0 references

Richard A Gibbs

6

object named as

Richard A Gibbs

1 reference

Europe PubMed Central

1 August 2017

author name string

James T Lu

2

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Europe PubMed Central

1 August 2017

Brian C Dawson

3

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Europe PubMed Central

1 August 2017

Ivo F A C Fokkema

4

1 reference

Europe PubMed Central

1 August 2017

Brendan H Lee

7

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Europe PubMed Central

1 August 2017

publication date

12 July 2012

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Europe PubMed Central

1 August 2017

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Europe PubMed Central

1 August 2017

33

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Europe PubMed Central

1 August 2017

1520-1525

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Europe PubMed Central

1 August 2017

11

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Europe PubMed Central

1 August 2017

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

LOVD v.2.0: the next generation in gene variant databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Gene conversion: mechanisms, evolution and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Human syndromes with congenital patellar anomalies and the underlying gene defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Querkopf, a histone acetyltransferase, is essential for embryonic neurogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Genitopatellar syndrome: delineating the anomalies of female genitalia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Identification of a transcriptionally active peroxisome proliferator-activated receptor alpha -interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

DNA replication fidelity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Mental retardation with blepharophimosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

The Ohdo blepharophimosis syndrome: a third case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696352

6 July 2018

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

A novel fusion variant of the MORF and CBP genes detected in therapy-related myelodysplastic syndrome with t(10;16)(q22;p13).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Genitopatellar syndrome: expanding the phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

The transcriptional coactivator Querkopf controls adult neurogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Variant MYST4-CBP gene fusion in a t(10;16) acute myeloid leukaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Genitopatellar syndrome: a recognizable phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22141

21 January 2018

Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF

1 reference

https://pubmed.ncbi.nlm.nih.gov/22715153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yeast SAS silencing genes and human genes associated with AML and HIV-1 Tat interactions are homologous with acetyltransferases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22715153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22141

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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