(Q34388954)

English

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

scientific article

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

based on heuristic

inferred from title

spastic paraparesis

1 reference

based on heuristic

inferred from title

author name string

M Seri

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

R Cusano

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

P Forabosco

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

R Cinti

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

F Caroli

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

P Picco

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

R Bini

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

V B Morra

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

G De Michele

9

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M Lerone

10

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M Silengo

11

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

I Pela

12

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

C Borrone

13

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

G Romeo

14

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M Devoto

15

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 February 1999

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

64

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

586-593

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

The genetics of cataract: our vision becomes clearer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

An integrated physical and genetic map spanning chromosome band 10q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Pure hereditary spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

A Gene Map of the Human Genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Direct detection of novel expanded trinucleotide repeats in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Hereditary spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

Classification of Hereditary Cataracts in Children by Linkage Analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

6 July 2018

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

Analysis of CAG trinucleotide repeats from mouse cDNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

A progressive early onset cataract gene maps to human chromosome 17q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

27 October 2018

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377769

9 December 2018

PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On hereditary epithelial dystrophy of the cornea (type Meesmann-Wilke) in Schleswig-Holstein]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for autosomal dominant anterior polar cataract on chromosome 17p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34388954&oldid=1549456085"