A novel MKRN3 missense mutation causing familial precocious puberty (Q34443581)

2 August 2017

A novel MKRN3 missense mutation causing familial precocious puberty (English)

1 reference

2 August 2017

L de Vries

1

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2 August 2017

G Gat-Yablonski

2

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2 August 2017

N Dror

3

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2 August 2017

A Singer

4

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2 August 2017

M Phillip

5

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2 August 2017

language of work or name

English

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publication date

14 October 2014

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2 August 2017

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2 August 2017

29

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2 August 2017

2838-2843

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2 August 2017

12

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Central precocious puberty caused by mutations in the imprinted gene MKRN3.

2 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Structural classification of zinc fingers: survey and summary

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

A CCCH zinc finger conserved in a replication protein a homolog found in diverse Euryarchaeotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Variations in pattern of pubertal changes in girls

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Genetic variation in LIN28B is associated with the timing of puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

UCSF Chimera--a visualization system for exploratory research and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Neurobiological mechanisms of puberty in higher primates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Comparative protein modelling by satisfaction of spatial restraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Mutations of the KISS1 gene in disorders of puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

A GPR54-activating mutation in a patient with central precocious puberty.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

Neurobiological mechanisms of the onset of puberty in primates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEU256

21 January 2018

Identifiers

DOI

10.1093/HUMREP/DEU256

1 reference

2 August 2017

1 reference