(Q34988773)

English

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

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scholarly article

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29 January 2020

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome (English)

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29 January 2020

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29 January 2020

author name string

Maria Cristina Roberti

1

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29 January 2020

Maria Cristina Digilio

3

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29 January 2020

Gemma D'Elia

4

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29 January 2020

Pietro Sirleto

5

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29 January 2020

Rossella Capolino

6

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29 January 2020

Antonietta Lombardo

7

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29 January 2020

Anna Cristina Tomaiuolo

8

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29 January 2020

Stefano Petrocchi

9

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29 January 2020

Adriano Angioni

10

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29 January 2020

publication date

19 April 2011

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29 January 2020

Orphanet Journal of Rare Diseases

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29 January 2020

6

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29 January 2020

17

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29 January 2020

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-17

0 references

Complex human chromosomal and genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Complex chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Comparative genomic hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Delineation of complex chromosomal rearrangements: evidence for increased complexity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Complex chromosome rearrangements. Report of a new case and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Complex chromosomal rearrangements (CCR) and their genetic consequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Clinical features in a de novo interstitial deletion 15q13 to q15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

Cleft palate and complex chromosome rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

The Prader-Willi syndrome with a 15/3 translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

8 July 2018

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

High resolution comparative genomic hybridisation in clinical cytogenetics

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3096895

26 October 2018

‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-17

21 January 2018

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 6/15 translocation with multiple congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart disease with del(15q) mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex chromosome rearrangements and congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial 15q deletion without a classic Prader-Willi phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novobalanced chromosome rearrangements in prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21504564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-6-17

1 reference

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29 January 2020

Dimensions Publication ID

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Internet Archive ID

pubmed-PMC3096895

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1 reference

Europe PubMed Central

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29 January 2020

1 reference

Europe PubMed Central

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29 January 2020

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