Monosomy 18p (Q21202900)

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Language	Label	Description	Also known as
English	Monosomy 18p	scientific article

Statements

scholarly article

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5 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

Monosomy 18p (English)

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chromosomal disease

5 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

genetic variation

1 reference

14 September 2019

1 reference

12 October 2019

author name string

Catherine Turleau

1

author given names

Catherine

author last names

Turleau

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

19 February 2008

5 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

Orphanet Journal of Rare Diseases

5 references

22 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

3

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1

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4

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copyright license

Creative Commons Attribution 2.0 Generic

5 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

12 October 2019

copyright status

0 references

on focus list of Wikimedia project

0 references

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

19 March 2017

Physical mapping of the holoprosencephaly critical region in 18p11.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

19 March 2017

DNA sequence and analysis of human chromosome 18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

19 March 2017

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

19 March 2017

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

19 March 2017

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Familial deletion 18p syndrome: case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Follow-up of adult males with chromosome 18p deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

12 September 2017

Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

27 September 2017

The 18 p-syndrome. Report of four cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

27 September 2017

Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that the LAMA1 gene is involved?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

30 May 2018

18p monosomy with midline defects and a de novo satellite identified by FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

30 May 2018

Intellectual, behavioral, and linguistic characteristics of three children with 18p- syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

30 May 2018

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Unbalanced whole arm translocation resulting in loss of 18p in dystonia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Genetic analysis of three patients with an 18p- syndrome and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265258

29 November 2018

Heterotaxy with left atrial isomerism in a patient with deletion 18p

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of 18p deletions: evidence for a breakpoint cluster

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

18p monosomy with GH-deficiency and empty sella: good response to GH-treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 18 aberrations and epilepsy: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/18284672

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-3-4

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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