(Q24672181)

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The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2

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scholarly article

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26 October 2019

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. (English)

1 reference

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26 October 2019

Drosophila melanogaster

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author name string

K S Chen

1

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26 October 2019

P H Gunaratne

2

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26 October 2019

J D Hoheisel

3

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26 October 2019

I G Young

4

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26 October 2019

G L Miklos

5

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26 October 2019

F Greenberg

6

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26 October 2019

L G Shaffer

7

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26 October 2019

H D Campbell

8

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26 October 2019

J R Lupski

9

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26 October 2019

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1 January 1995

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26 October 2019

American Journal of Human Genetics

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26 October 2019

56

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26 October 2019

175-182

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26 October 2019

1

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26 October 2019

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

The Drosophila melanogaster flightless-I gene involved in gastrulation and muscle degeneration encodes gelsolin-like and leucine-rich repeat domains and is conserved in Caenorhabditis elegans and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

7 April 2017

Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Molecular characterization of de novo secondary trisomy 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

The William Allan Memorial Award Address: Gene clusters, Genome organization, and complex phenotypes. When the sequence is known, what will it mean?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

High efficiency vectors for cosmid microcloning and genomic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 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=1801336

28 September 2017

Developmental genetics of loci at the base of the X chromosome of Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

From the structure to the function of villin, an actin-binding protein of the brush border

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Microfilament Structure and Function in the Cortical Cytoskeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 September 2017

Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

30 May 2018

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

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=1801336

30 May 2018

The mutations previously designated as flightless-I3, flightless-O2 and standby are members of the W-2 lethal complementation group at the base of the X-chromosome of Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

30 May 2018

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

30 May 2018

Diagnostic hand anomalies in Smith-Magenis syndrome: Four new patients with del (17)(p11.2p11.2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

30 May 2018

Gene analysis of Japanese patients with familial amyloidotic polyneuropathy type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

30 May 2018

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 July 2018

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 November 2018

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 November 2018

The Drosophila 18 wheeler is required for morphogenesis and has striking similarities to Toll.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801336

28 November 2018

Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding of fibromodulin and decorin to separate sites on fibrillar collagens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type

1 reference

https://pubmed.ncbi.nlm.nih.gov/7825574

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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26 October 2019

1 reference

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26 October 2019

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