(Q36096140)

English

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

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scholarly article

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Europe PubMed Central

PMC publication ID

12 August 2017

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies (English)

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Vera M. Kalscheuer

31

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12 August 2017

30

object named as

Niels Tommerup

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Michael E. Talkowski

object named as

Michael E Talkowski

11

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Ingo Kurth

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Asli Silahtaroglu

object named as

Asli Silahtaroglu

6

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Douglas M. Ruderfer

object named as

Douglas Ruderfer

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object named as

Bernd F Romeike

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Ethylin Wang Jabs

object named as

Ethylin Wang Jabs

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object named as

Cheol-Hee Kim

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Kerstin Kutsche

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object named as

Kerstin Kutsche

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12 August 2017

James F. Gusella

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object named as

James F Gusella

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Marcy E. MacDonald

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Marcy E MacDonald

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Ihn Sik Seong

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Cynthia C Morton

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Natalia T. Leach

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object named as

Natalia T Leach

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12 August 2017

27

object named as

Lisa G Shaffer

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object named as

Alex V Levin

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Tjitske Kleefstra

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object named as

Tjitske Kleefstra

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12 August 2017

Hans-Hilger Ropers

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object named as

Hans-Hilger Ropers

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12 August 2017

author name string

Hyung-Goo Kim

1

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12 August 2017

Hyun-Taek Kim

2

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12 August 2017

Fei Lan

4

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12 August 2017

Reinhard Ullmann

5

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12 August 2017

Anja Nowka

8

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12 August 2017

Yiping Shen

10

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12 August 2017

Ji-Hyun Lee

13

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12 August 2017

Caron Glotzbach

14

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12 August 2017

Kyungsoo Ha

15

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Susanne Kjaergaard

16

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Oliver Bartsch

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12 August 2017

Sarah H Elsea

21

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12 August 2017

David J Harris

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12 August 2017

Bradley J Quade

25

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12 August 2017

Lawrence C Layman

29

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12 August 2017

Yang Shi

32

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12 August 2017

language of work or name

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publication date

5 July 2012

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12 August 2017

American Journal of Human Genetics

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12 August 2017

91

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1

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12 August 2017

56-72

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12 August 2017

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

1 reference

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2 October 2017

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

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2 October 2017

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

1 reference

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2 October 2017

A copy number variation morbidity map of developmental delay

1 reference

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2 October 2017

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

1 reference

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2 October 2017

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

1 reference

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2 October 2017

A map of human genome variation from population-scale sequencing

1 reference

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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

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2 October 2017

Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development

1 reference

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2 October 2017

PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation

1 reference

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Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

1 reference

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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

1 reference

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Genome-wide association study of bipolar disorder in European American and African American individuals

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Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

1 reference

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Identification of loci associated with schizophrenia by genome-wide association and follow-up

1 reference

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2 October 2017

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

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FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

1 reference

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Genomewide association for schizophrenia in the CATIE study: results of stage 1

1 reference

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2 October 2017

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1 reference

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2 October 2017

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

1 reference

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Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

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Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397276

2 October 2017

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397276

2 October 2017

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

1 reference

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2 October 2017

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

1 reference

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2 October 2017

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

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2 October 2017

FNDC3A is required for adhesion between spermatids and Sertoli cells

1 reference

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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

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2 October 2017

A component of BRAF-HDAC complex, BHC80, is required for neonatal survival in mice

1 reference

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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

1 reference

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GTF2IRD1 in craniofacial development of humans and mice

1 reference

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Regulation of LSD1 histone demethylase activity by its associated factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397276

2 October 2017

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397276

2 October 2017

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397276

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Histone demethylation mediated by the nuclear amine oxidase homolog LSD1

1 reference

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Characterization of BHC80 in BRAF-HDAC complex, involved in neuron-specific gene repression

1 reference

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1 reference

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1 reference

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A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes

1 reference

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1 reference

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A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells

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Genetics of craniofacial development and malformation

1 reference

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

1 reference

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1 reference

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Analysis of upstream elements in the HuC promoter leads to the establishment of transgenic zebrafish with fluorescent neurons

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Repressor activity of Headless/Tcf3 is essential for vertebrate head formation.

1 reference

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1 reference

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1 reference

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DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner

1 reference

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Reverse chromosome painting for the identification of marker chromosomes and complex translocations in leukemia

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Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

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Localization of the human HuR gene to chromosome 19p13.2

1 reference

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Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

1 reference

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2 October 2017

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1 reference

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2 October 2017

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

1 reference

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2 October 2017

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11

1 reference

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2 October 2017

Cloning and characterization of HuR, a ubiquitously expressed Elav-like protein

1 reference

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2 October 2017

An improved PCR method for walking in uncloned genomic DNA.

1 reference

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2 October 2017

FoxH1 negatively modulates flk1 gene expression and vascular formation in zebrafish

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2 July 2018

Zebrafish elav/HuC homologue as a very early neuronal marker.

1 reference

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2 July 2018

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

1 reference

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23 September 2018

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1 reference

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23 September 2018

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

1 reference

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23 September 2018

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

1 reference

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23 September 2018

Integration of cytogenetic landmarks into the draft sequence of the human genome

1 reference

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23 September 2018

DEFECT 11 syndrome associated with agenesis of the corpus callosum

1 reference

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23 September 2018

Jaw and branchial arch mutants in zebrafish I: branchial arches.

1 reference

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23 September 2018

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

1 reference

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23 September 2018

Molecular and clinical examination of an Italian DEFECT 11 family

1 reference

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5 December 2018

Identifiers

10.1016/J.AJHG.2012.05.005

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

ResearchGate publication ID

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