(Q24561688)

19 October 2023

S Bruno

2

S

Bruno

1 reference

19 October 2023

J M Scharf

3

J M

Scharf

1 reference

19 October 2023

C H Wang

4

C H

Wang

1 reference

19 October 2023

E Vitale

5

E

Vitale

1 reference

19 October 2023

T C Gilliam

6

T C

Gilliam

1 reference

19 October 2023

L M Kunkel

7

L M

Kunkel

1 reference

Proceedings of the National Academy of Sciences of the United States of America

19 October 2023

language of work or name

English

0 references

publication date

25 April 1995

0 references

published in

0 references

volume

92

0 references

issue

9

0 references

page(s)

3702-6

0 references

cites work

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Basic local alignment search tool

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A catalogue of splice junction sequences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

From cadherins to catenins: cytoplasmic protein interactions and regulation of cell adhesion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

The 1993-94 Généthon human genetic linkage map

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

The gene for the cell adhesion molecule M-cadherin maps to mouse chromosome 8 and human chromosome 16q24.1-qter and is near the E-cadherin (uvomorulin) locus in both species

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Identification and characterization of a spinal muscular atrophy-determining gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

High resolution physical map of the region surrounding the spinal muscular atrophy gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Characterization and chromosomal localization of the gene encoding the human cell adhesion molecule uvomorulin.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42029

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

28 November 2018

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

release_lvoahqrog5binphbtlnak3yjje

Identifiers

DOI

10.1073/PNAS.92.9.3702

0 references

ADS bibcode

1995PNAS...92.3702S

0 references

Fatcat ID

0 references

PMC publication ID

42029

0 references