Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion (Q39512338)

12 September 2017

0 references

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion (English)

1 reference

12 September 2017

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26052347%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Giovanni Morana

7

1 reference

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13 June 2020

author name string

Elisa Tassano

1

1 reference

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13 June 2020

Marisol Mirabelli-Badenier

2

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13 June 2020

Edvige Veneselli

3

1 reference

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13 June 2020

Margherita Lerone

5

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13 June 2020

Carlotta Maria Vaccari

6

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13 June 2020

Simona Porta

8

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13 June 2020

Giorgio Gimelli

9

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13 June 2020

Cristina Cuoco

10

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13 June 2020

language of work or name

1 reference

28 April 2015

1 reference

12 September 2017

Molecular Cytogenetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26052347%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

8

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13 June 2020

page(s)

31

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Creative Commons Attribution 4.0 International

13 June 2020

copyright license

start time

28 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13039-015-0134-7

0 references

cites work

Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation

1 reference

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Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses

12 September 2017

1 reference

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Fyn kinase in brain diseases and cancer: the search for inhibitors

12 September 2017

1 reference

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Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Cross-talk unfolded: MARCKS proteins

12 September 2017

1 reference

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Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

New insights into the phenotypes of 6q deletions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum.

15 June 2018

1 reference

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Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

The specific role of histone deacetylase 2 in adult neurogenesis.

21 August 2018

1 reference

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A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Characterization of a Heparan Sulfate 3-O-Sulfotransferase-5, an Enzyme Synthesizing a Tetrasulfated Disaccharide

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457201

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

21 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13039-015-0134-7

Interstitial deletion of 6q without phenotypic effect

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13039-015-0134-7

Three cases with de novo 6q imbalance and variable prenatal phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26052347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Acro-cardio-facial syndrome: a microdeletion syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26052347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13039-015-0134-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26052347%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26052347%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26052347%20AND%20SRC:MED&resulttype=core&format=json