(Q35748373)

10 August 2017

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

1 reference

Gabriele Gillessen-Kaesbach

10 August 2017

Genitopatellar syndrome

1 reference

based on heuristic

inferred from title

author

7

Gabriele Gillessen-Kaesbach

0 references

Lisenka Vissers

4

Lisenka E L M Vissers

1 reference

10 August 2017

Dimitra Dafou

3

0 references

Michael Simpson

Michael A Simpson

1

0 references

Richard C Trembath

Richard C Trembath

16

0 references

Han G. Brunner

14

Han G Brunner

1 reference

10 August 2017

12

Lies H Hoefsloot

1 reference

10 August 2017

11

Sarina G Kant

1 reference

10 August 2017

8

Ronny Derks

1 reference

10 August 2017

15

Ernie M H F Bongers

1 reference

10 August 2017

Charu Deshpande

2

1 reference

10 August 2017

Wesley J Woollard

5

1 reference

10 August 2017

Susan E Holder

6

1 reference

10 August 2017

Susan M White

9

1 reference

10 August 2017

Ruthy Cohen-Snuijf

10

1 reference

10 August 2017

Willie Reardon

13

1 reference

10 August 2017

language of work or name

English

0 references

publication date

19 January 2012

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

90

1 reference

10 August 2017

2

1 reference

10 August 2017

290-294

1 reference

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

BEDTools: a flexible suite of utilities for comparing genomic features

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

The Sequence Alignment/Map format and SAMtools

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Mutations in the human TBX4 gene cause small patella syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Genitopatellar syndrome: a recognizable phenotype.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276665

Genitopatellar syndrome: a further case

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22265017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.024

1 reference

10 August 2017

1 reference

10 August 2017

1 reference