(Q51012130)

English

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

scientific article published in January 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Contiguous gene syndrome

1 reference

based on heuristic

inferred from title

author name string

Hu LJ

1

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Laporte J

2

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Kress W

3

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Kioschis P

4

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Siebenhaar R

5

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Poustka A

6

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Fardeau M

7

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Metzenberg A

8

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Janssen EA

9

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Thomas N

10

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Mandel JL

11

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Dahl N

12

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

publication date

1 January 1996

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

5

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

1

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

139-143

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

A linkage study of a large pedigree with X linked centronuclear myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

A strategy for the selection of transcribed sequences in the Xq28 region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

YAC contig organization and CpG island analysis in Xq28.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Linear order of new and established DNA markers around the fragile site at Xq27.3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Yeast artificial chromosomes with 200- to 800-kilobase inserts of human DNA containing HLA, V kappa, 5S, and Xq24-Xq28 sequences.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Yeast artificial chromosomes containing human Xq24-Xq28 DNA: library construction and representation of probe sequences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.139

21 January 2018

Identifiers

10.1093/HMG/5.1.139

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 March 2018

http://europepmc.org/abstract/MED/8789451

ResearchGate publication ID

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