(Q33967982)

30 July 2017

title

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome (English)

1 reference

30 July 2017

Ornella Galesi

8

0 references

Francesca Darra

Francesca Darra

36

0 references

Francesca Novara

Francesca Novara

5

0 references

Annalisa Vetro

Annalisa Vetro

9

0 references

Donatella Greco

Donatella Greco

23

0 references

Cristiano Termine

Cristiano Termine

37

0 references

Massimo Molteni

Massimo Molteni

21

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Sabrina Giglio

Sabrina Giglio

12

0 references

Marco Fichera

Marco Fichera

6

0 references

Maria Clara Bonaglia

Maria Clara Bonaglia

1

0 references

Renato Borgatti

Renato Borgatti

18

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Roberto Giorda

Roberto Giorda

2

0 references

Pierluigi Politi

Pierluigi Politi

49

0 references

Alfredo Brusco

Alfredo Brusco

44

0 references

Corrado Romano

Corrado Romano

22

0 references

Orsetta Zuffardi

Orsetta Zuffardi

55

0 references

Frederique Sloan Bena

43

Frederique Bena

1 reference

30 July 2017

13

Renzo Guerrini

1 reference

30 July 2017

Chiara Pantaleoni

30

1 reference

ORCID Public Data File 2021

Lucio Nitsch

48

Lucio Nitsch

1 reference

30 July 2017

35

Leonardo Zoccante

1 reference

30 July 2017

10

Roberto Ciccone

1 reference

30 July 2017

42

Stefania Gimelli

1 reference

30 July 2017

24

Santina Reitano

1 reference

30 July 2017

54

Britt-Marie Anderlid

1 reference

Bernardo Dalla Bernardina

30 July 2017

34

Bernardo Dalla Bernardina

1 reference

30 July 2017

3

Silvana Beri

1 reference

30 July 2017

7

Lucia Grillo

1 reference

30 July 2017

15

Susan Marelli

1 reference

30 July 2017

16

Claudio Zucca

1 reference

30 July 2017

17

Rita Grasso

1 reference

30 July 2017

11

Maria Teresa Bonati

1 reference

30 July 2017

Cristina De Agostini

4

1 reference

30 July 2017

Sara Osimani

14

1 reference

30 July 2017

Elisa Mani

19

1 reference

30 July 2017

Cristina Motta

20

1 reference

30 July 2017

Anna Baroncini

25

1 reference

30 July 2017

Elisabetta Lapi

26

1 reference

30 July 2017

Antonella Cecconi

27

1 reference

30 July 2017

Giulia Arrigo

28

1 reference

30 July 2017

Maria Grazia Patricelli

29

1 reference

30 July 2017

Stefano D'Arrigo

31

1 reference

30 July 2017

Daria Riva

32

1 reference

30 July 2017

Francesca Sciacca

33

1 reference

30 July 2017

Emanuela Maserati

38

1 reference

30 July 2017

Stefania Bigoni

39

1 reference

30 July 2017

Emanuela Priolo

40

1 reference

30 July 2017

Armand Bottani

41

1 reference

30 July 2017

Eleonora di Gregorio

45

1 reference

30 July 2017

Irene Bagnasco

46

1 reference

30 July 2017

Ursula Giussani

47

1 reference

30 July 2017

Maria Luisa Martinez-Frias

50

1 reference

30 July 2017

Maria Luisa Martínez-Fernández

51

1 reference

30 July 2017

Nieves Martínez Guardia

52

1 reference

30 July 2017

Anna Bremer

53

1 reference

30 July 2017

publication date

14 July 2011

1 reference

30 July 2017

1 reference

30 July 2017

volume

7

1 reference

30 July 2017

issue

7

1 reference

30 July 2017

page(s)

e1002173

1 reference

Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

14 July 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

1 reference

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Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2

5 July 2018

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

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Progressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Non-B DNA structure-induced genetic instability and evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

A microhomology-mediated break-induced replication model for the origin of human copy number variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Contribution of SHANK3 mutations to autism spectrum disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

On the mechanism of gene amplification induced under stress in Escherichia coli

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Molecular and phenotypic characterization of ring chromosome 22

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Telomere maintenance and cancer -- look, no telomerase.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

FISH-mapping of a 100-kb terminal 22q13 deletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Molecular characterization of inter-telomere and intra-telomere mutations in human ALT cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

5 July 2018

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Plasmodium falciparum telomerase: de novo telomere addition to telomeric and nontelomeric sequences and role in chromosome healing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

Healing of broken human chromosomes by the addition of telomeric repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

New telomere formation after developmentally regulated chromosomal breakage during the process of chromatin diminution in Ascaris lumbricoides.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136441

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Novel de novo SHANK3 mutation in autistic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Chromosome instability is common in human cleavage-stage embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

Telomere capture stabilizes chromosome breakage

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002173

New mutations and intellectual function

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21779178

12 December 2020

inferred from PubMed ID database lookup

Characterization of 5q deletions by subtelomeric probes and spectral karyotyping

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21779178

12 December 2020

inferred from PubMed ID database lookup

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21779178

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002173

1 reference

release_ztgzzc7kuvgm7b577yl6xtzbkq

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ztgzzc7kuvgm7b577yl6xtzbkq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3136441

1 reference

30 July 2017

1 reference