(Q24648305)

6

0 references

Jan M Friedman

object named as

Jan M Friedman

11

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Helen V. Firth

2

object named as

Helen V Firth

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author name string

Agnes Baross

3

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Allen D Delaney

4

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Patrice Eydoux

5

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Sylvie Langlois

7

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Howard Martin

8

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Lionel Willatt

9

0 references

Marco A Marra

Journal of Medical Genetics

10

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language of work or name

English

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publication date

September 2007

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published in

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volume

44

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issue

9

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page(s)

556-61

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cites work

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Transcription elongation factors repress transcription initiation from cryptic sites.

7 April 2017

1 reference

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The Paf1 complex physically and functionally associates with transcription elongation factors in vivo

7 April 2017

1 reference

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FACT facilitates transcription-dependent nucleosome alteration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

7 April 2017

1 reference

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CTCF-dependent chromatin insulator is linked to epigenetic remodeling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

7 April 2017

1 reference

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de FACTo nucleosome dynamics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Genetics and pathophysiology of mental retardation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

From transcription to mRNA: PAF provides a new path.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Diagnostic genome profiling in mental retardation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability

28 September 2017

1 reference

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

The FACT complex travels with elongating RNA polymerase II and is important for the fidelity of transcriptional initiation in vivo

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Synthetic lethal interactions suggest a role for the Saccharomyces cerevisiae Rtf1 protein in transcription elongation

28 September 2017

1 reference

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The prevalence of mental retardation: a critical review of recent literature.

28 September 2017

1 reference

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Abnormal myelination in a patient with deletion 14q11.2q13.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

First case of deletion 14q11.2q13: clinical phenotype.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Ndrg2 promotes neurite outgrowth of NGF-differentiated PC12 cells.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597953

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations

28 November 2018

1 reference

12 December 2020

De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly

1 reference

12 December 2020

Another patient with a deletion 14q11.2q13

1 reference

12 December 2020

Patterns of Segmental Duplication in the Human Genome

1 reference

12 December 2020