Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome (Q24336051)

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

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scholarly article

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

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Miller–Dieker lissencephaly syndrome

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Platelet activating factor acetylhydrolase 1b regulatory subunit 1

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GOA release 2020-03-11

neuromuscular process controlling balance

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GOA release 2020-03-11

William B. Dobyns

4

object named as

W B Dobyns

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author name string

C Lo Nigro

1

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C S Chong

2

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A C Smith

3

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R Carrozzo

5

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D H Ledbetter

6

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language of work or name

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publication date

February 1997

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Human Molecular Genetics

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6

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2

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157-64

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The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

Causal heterogeneity in isolated lissencephaly

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

Lissencephaly and other malformations of cortical development: 1995 update

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

X-linked malformations of neuronal migration

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

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

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

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

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

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

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

A survey on intron and exon lengths

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21 January 2018

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

X linked hydrocephalus and MASA syndrome

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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21 January 2018

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

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21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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21 January 2018

Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

Human haploinsufficiency — one for sorrow, two for joy

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https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

21 January 2018

Platelet-activating factor produces neuronal growth cone collapse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuroregulatory and neuropathological actions of the ether-phospholipid platelet-activating factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.157

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1093/HMG/6.2.157

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