A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype (Q80739057)

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3 January 2020

title

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype (English)

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3 January 2020

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Laurence Legeai-Mallet

5

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3 January 2020

Laurent Villard

10

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3 January 2020

author name string

Anne Moncla

1

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3 January 2020

Chantal Missirian

2

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3 January 2020

Pierre Cacciagli

3

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3 January 2020

Eve Balzamo

4

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3 January 2020

Jean-Luc Jouve

6

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3 January 2020

Brigitte Chabrol

7

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3 January 2020

Martine Le Merrer

8

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3 January 2020

Ghislaine Plessis

9

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3 January 2020

Nicole Philip

11

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publication date

1 December 2007

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3 January 2020

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3 January 2020

volume

28

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3 January 2020

issue

12

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3 January 2020

page(s)

1183-1188

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Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

3 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Dwarfism and early death in mice lacking C-type natriuretic peptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Regulation of type I collagen genes expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

C-type natriuretic peptide (CNP): a new member of natriuretic peptide family identified in porcine brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Natriuretic peptide regulation of endochondral ossification. Evidence for possible roles of the C-type natriuretic peptide/guanylyl cyclase-B pathway.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20611

7 January 2021

Identifiers

DOI

10.1002/HUMU.20611

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3 January 2020

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