(Q24532106)

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 (English)

1 reference

Europe PubMed Central

4 July 2017

0 references

Miller–Dieker lissencephaly syndrome

0 references

William B. Dobyns

14

1 reference

Europe PubMed Central

4 July 2017

Christa Lese Martin

7

object named as

Christa L Martin

1 reference

Europe PubMed Central

4 July 2017

Judith Allanson

8

object named as

Judith Allanson

1 reference

Europe PubMed Central

4 July 2017

David H. Ledbetter

15

object named as

David H Ledbetter

1 reference

Europe PubMed Central

4 July 2017

author name string

Carlos Cardoso

1

1 reference

Europe PubMed Central

4 July 2017

Richard J Leventer

2

1 reference

Europe PubMed Central

4 July 2017

Heather L Ward

3

1 reference

Europe PubMed Central

4 July 2017

Kazuhito Toyo-Oka

4

1 reference

Europe PubMed Central

4 July 2017

June Chung

5

1 reference

Europe PubMed Central

4 July 2017

Alyssa Gross

6

1 reference

Europe PubMed Central

4 July 2017

Daniela T Pilz

9

1 reference

Europe PubMed Central

4 July 2017

Ann H Olney

10

1 reference

Europe PubMed Central

4 July 2017

Osvaldo M Mutchinick

11

1 reference

Europe PubMed Central

4 July 2017

Shinji Hirotsune

12

1 reference

Europe PubMed Central

4 July 2017

Anthony Wynshaw-Boris

13

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

5 March 2003

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

4 July 2017

72

1 reference

Europe PubMed Central

4 July 2017

918-930

1 reference

Europe PubMed Central

4 July 2017

4

1 reference

Europe PubMed Central

4 July 2017

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

Physiological signals and oncogenesis mediated through Crk family adapter proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

Signal transduction and membrane traffic: the PITP/phosphoinositide connection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

24 March 2017

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Characterization of the human gene encoding the scavenger receptor expressed by endothelial cell and its regulation by a novel transcription factor, endothelial zinc finger protein-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Signaling adaptor protein v-Crk activates Rho and regulates cell motility in 3Y1 rat fibroblast cell line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

How do 14-3-3 proteins work?-- Gatekeeper phosphorylation and the molecular anvil hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

An optimized set of human telomere clones for studying telomere integrity and architecture.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Clinical and molecular diagnosis of Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

The product of the cellular crk gene consists primarily of SH2 and SH3 regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

27 September 2017

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

30 May 2018

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

30 May 2018

A chemical-genetic strategy implicates myosin-1c in adaptation by hair cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

29 November 2018

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180354

29 November 2018

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

1 reference

https://pubmed.ncbi.nlm.nih.gov/12621583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12621583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of 228 ESTs and 26 genes into an integrated physical and genetic map of human chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/12621583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing factor Prp8 governs U4/U6 RNA unwinding during activation of the spliceosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12621583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

4 July 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Europe PubMed Central

4 July 2017

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