Efficient identification of novel mutations in patients with limb girdle muscular dystrophy (Q34152718)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Steven E Boyden

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Anna R Duncan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Alexander J White

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Elicia A Estrella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Stephanie L Burgess

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mohammed Z Seidahmed

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Abdullah S Al-Jarallah

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Hisham M S Alkhalidi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Waleed M Al-Maneea

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Richard R Bennett

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Salem H Alshemmari

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Louis M Kunkel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Peter B Kang

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

13 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

449-455

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

HomozygosityMapper--an interactive approach to homozygosity mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

A systematic approach to mapping recessive disease genes in individuals from outbred populations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Human non-synonymous SNPs: server and survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Limb–girdle muscular dystrophies

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944962

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20623375

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20623375

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-010-0250-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20623375%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

20623375

1 reference