Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome (Q33967982)

30 July 2017

title

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

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30 July 2017

Ornella Galesi

8

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Francesca Darra

Francesca Darra

36

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Francesca Novara

Francesca Novara

5

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Annalisa Vetro

Annalisa Vetro

9

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Donatella Greco

Donatella Greco

23

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Cristiano Termine

Cristiano Termine

37

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Massimo Molteni

Massimo Molteni

21

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Sabrina Giglio

Sabrina Giglio

12

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Marco Fichera

Marco Fichera

6

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Maria Clara Bonaglia

Maria Clara Bonaglia

1

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Renato Borgatti

Renato Borgatti

18

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Roberto Giorda

Roberto Giorda

2

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Pierluigi Politi

Pierluigi Politi

49

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Alfredo Brusco

Alfredo Brusco

44

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Corrado Romano

Corrado Romano

22

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Orsetta Zuffardi

Orsetta Zuffardi

55

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Frederique Sloan Bena

43

Frederique Bena

1 reference

30 July 2017

13

Renzo Guerrini

1 reference

30 July 2017

Chiara Pantaleoni

30

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ORCID Public Data File 2021

Lucio Nitsch

48

Lucio Nitsch

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30 July 2017

35

Leonardo Zoccante

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30 July 2017

10

Roberto Ciccone

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30 July 2017

42

Stefania Gimelli

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30 July 2017

24

Santina Reitano

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30 July 2017

54

Britt-Marie Anderlid

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Bernardo Dalla Bernardina

30 July 2017

34

Bernardo Dalla Bernardina

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30 July 2017

3

Silvana Beri

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30 July 2017

7

Lucia Grillo

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15

Susan Marelli

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16

Claudio Zucca

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30 July 2017

17

Rita Grasso

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30 July 2017

11

Maria Teresa Bonati

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30 July 2017

Cristina De Agostini

4

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30 July 2017

Sara Osimani

14

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30 July 2017

Elisa Mani

19

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30 July 2017

Cristina Motta

20

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30 July 2017

Anna Baroncini

25

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Elisabetta Lapi

26

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Antonella Cecconi

27

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30 July 2017

Giulia Arrigo

28

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Maria Grazia Patricelli

29

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Stefano D'Arrigo

31

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30 July 2017

Daria Riva

32

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Francesca Sciacca

33

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Emanuela Maserati

38

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30 July 2017

Stefania Bigoni

39

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30 July 2017

Emanuela Priolo

40

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30 July 2017

Armand Bottani

41

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30 July 2017

Eleonora di Gregorio

45

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30 July 2017

Irene Bagnasco

46

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30 July 2017

Ursula Giussani

47

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30 July 2017

Maria Luisa Martinez-Frias

50

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30 July 2017

Maria Luisa Martínez-Fernández

51

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30 July 2017

Nieves Martínez Guardia

52

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30 July 2017

Anna Bremer

53

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30 July 2017

publication date

14 July 2011

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30 July 2017

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30 July 2017

volume

7

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30 July 2017

issue

7

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30 July 2017

page(s)

e1002173

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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

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5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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Molecular and phenotypic characterization of ring chromosome 22

5 July 2018

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

5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

22q13 deletion syndrome

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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

21 January 2018

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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

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

21 January 2018

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Novel de novo SHANK3 mutation in autistic patients

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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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