MTM1 mutations in X-linked myotubular myopathy (Q28143326)

10

object named as

S Liechti-Gallati

0 references

author name string

J Laporte

1

0 references

V Biancalana

2

0 references

S M Tanner

3

0 references

W Kress

4

0 references

V Schneider

5

0 references

C Wallgren-Pettersson

6

0 references

F Herger

7

0 references

A Buj-Bello

8

0 references

F Blondeau

Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28.

9

0 references

language of work or name

English

0 references

publication date

2000

0 references

published in

Human Mutation

0 references

volume

15

0 references

page(s)

393-409

0 references

issue

5

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Characterization of differentially expressed genes in purified Drosophila follicle cells: toward a general strategy for cell type-specific developmental analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Association of SET domain and myotubularin-related proteins modulates growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Growth stimulation of primary B cell precursors by the anti-phosphatase Sbf1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Development of "substrate-trapping" mutants to identify physiological substrates of protein tyrosine phosphatases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Germline mosaicism in X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Medical complications in long-term survivors with X-linked myotubular myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

The human gene mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

X-linked centronuclear myopathy: Mapping the gene to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

X-linked myotubular myopathy: refinement of the critical gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R

10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

5037820

5037820

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference