Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. (Q53086652)

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27 February 2020

title

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum (English)

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27 February 2020

1

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27 February 2020

Jacopo Azzollini

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Ilaria Parenti

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5

Maura Masciadri

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3

Anna Cereda

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27 February 2020

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Angelo Selicorni

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Lidia Larizza

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27 February 2020

author name string

Silvia Russo

2

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27 February 2020

Daniela Melis

7

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27 February 2020

Teresa Aravena

8

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Bérénice Doray

9

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Alessandra Ferrarini

10

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27 February 2020

Livia Garavelli

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language of work or name

English

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publication date

2 October 2013

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American Journal of Medical Genetics

27 February 2020

published in

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27 February 2020

volume

161A

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issue

11

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page(s)

2909-2919

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Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

27 February 2020

cites work

1 reference

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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

21 January 2018

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The DXS423E gene in Xp11.21 escapes X chromosome inactivation

21 January 2018

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X-inactivation profile reveals extensive variability in X-linked gene expression in females

21 January 2018

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Modifier genes in Mendelian disorders: the example of cystic fibrosis

21 January 2018

1 reference

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

RAD21 mutations cause a human cohesinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies

21 January 2018

1 reference

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Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36252

The origin and evolution of mutations in acute myeloid leukemia

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36252

1 reference

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27 February 2020

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