(Q45345060)

13 December 2017

title

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (English)

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Cornelia de Lange syndrome

13 December 2017

main subject

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Cristina Gervasini

4

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Antonio Musio

object named as

Antonio Musio

1

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Donatella Milani

object named as

Donatella Milani

5

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author name string

Angelo Selicorni

2

1 reference

13 December 2017

Maria Luisa Focarelli

3

1 reference

13 December 2017

Silvia Russo

6

1 reference

13 December 2017

Paolo Vezzoni

7

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13 December 2017

Lidia Larizza

8

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13 December 2017

language of work or name

English

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publication date

9 April 2006

1 reference

13 December 2017

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13 December 2017

volume

38

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13 December 2017

issue

5

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13 December 2017

page(s)

528-530

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

13 December 2017

cites work

1 reference

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

21 January 2018

1 reference

Chromosomal cohesin forms a ring

21 January 2018

1 reference

Dynamic molecular linkers of the genome: the first decade of SMC proteins

21 January 2018

1 reference

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

21 January 2018

1 reference

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation

21 January 2018

1 reference

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

21 January 2018

1 reference

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

21 January 2018

1 reference

SMC1 involvement in fragile site expression.

21 January 2018

1 reference

Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae.

21 January 2018

1 reference

Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila

21 January 2018

1 reference

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

21 January 2018

1 reference

Variability of the Brachmann-de Lange syndrome

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1779

1 reference

Dimensions Publication ID

13 December 2017

1025561634

0 references

1 reference