(Q30801843)

4 November 2017

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 (English)

1 reference

4 November 2017

5

J Lloyd Holder

1 reference

4 November 2017

16

Pawel Stankiewicz

1 reference

4 November 2017

9

Judith E Allanson

1 reference

4 November 2017

17

Carlos A Bacino

1 reference

4 November 2017

19

Ankita Patel

1 reference

4 November 2017

Sirisha Peddibhotla

1

1 reference

4 November 2017

Sandesh C S Nagamani

2

1 reference

4 November 2017

Ayelet Erez

3

1 reference

4 November 2017

Jill V Hunter

4

1 reference

4 November 2017

Mary E Carlin

6

1 reference

4 November 2017

Patricia I Bader

7

1 reference

4 November 2017

Helene M F Perras

8

1 reference

4 November 2017

Leslie Newman

10

1 reference

4 November 2017

Gayle Simpson

11

1 reference

4 November 2017

LaDonna Immken

12

1 reference

4 November 2017

Erin Powell

13

1 reference

4 November 2017

Aaron Mohanty

14

1 reference

4 November 2017

Sung-Hae L Kang

15

1 reference

4 November 2017

Weimin Bi

18

1 reference

4 November 2017

Sau W Cheung

20

1 reference

4 November 2017

16 April 2014

1 reference

European Journal of Human Genetics

4 November 2017

1 reference

4 November 2017

23

1 reference

4 November 2017

1

1 reference

4 November 2017

54-60

1 reference

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Development and evolution of the human neocortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

NOTCH, a new signaling pathway implicated in holoprosencephaly.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Detection of clinically relevant exonic copy-number changes by array CGH.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

MicroRNA-mediated switching of chromatin-remodelling complexes in neural development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Thrombospondin 2 potentiates notch3/jagged1 signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Notch: from neural development to neurological disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Mechanisms for human genomic rearrangements

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Transcriptional control of cognitive development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Comparative analysis of the PDCD2-TBP-PSMB1 region in vertebrates

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Thrombospondins 1 and 2 function as inhibitors of angiogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Thrombospondins: multifunctional regulators of cell interactions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Notch signaling: cell fate control and signal integration in development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Mice that lack the angiogenesis inhibitor, thrombospondin 2, mount an altered foreign body reaction characterized by increased vascularity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Maintenance of somite borders in mice requires the Delta homologue DII1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.51

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.51

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.51

Identification of genomic loci contributing to agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.51

Astrocyte-derived thrombospondin-2 is critical for the repair of the blood-brain barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.51

Transient and restricted expression during mouse embryogenesis of Dll1, a murine gene closely related to Drosophila Delta.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266737

Isolated 6q terminal deletions: an emerging new syndrome

25 November 2018

1 reference

12 December 2020

Deletion of terminal portion of 6q: report of a case with unusual malformations

1 reference

12 December 2020

6q27 subtelomeric deletions: Is there a specific phenotype?

1 reference

12 December 2020

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.51

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

24736736

1 reference