(Q34419148)

2 August 2017

title

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

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Miller–Dieker lissencephaly syndrome

2 August 2017

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author name string

Chong SS

1

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2 August 2017

Pack SD

2

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2 August 2017

Roschke AV

3

1 reference

2 August 2017

Tanigami A

4

1 reference

2 August 2017

Carrozzo R

5

1 reference

2 August 2017

Smith AC

6

1 reference

2 August 2017

Dobyns WB

7

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2 August 2017

Ledbetter DH

8

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2 August 2017

language of work or name

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1 February 1997

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2 August 2017

published in

Human Molecular Genetics

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2 August 2017

volume

6

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2 August 2017

issue

2

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2 August 2017

page(s)

147-155

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Causal heterogeneity in isolated lissencephaly

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

X-linked malformations of neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

Labeling of the centromeric region on human chromosome 8 by in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.147

21 January 2018

Identifiers

DOI

10.1093/HMG/6.2.147

1 reference

2 August 2017

1 reference