Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31 (Q34389378)

1 August 2017

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31 (English)

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1 August 2017

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18

Gusella JF

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1 August 2017

13

Mendillo M

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1 August 2017

Xandra O. Breakefield

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object named as

Breakefield X

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1 August 2017

Blumenfeld A

1

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1 August 2017

Slaugenhaupt SA

2

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1 August 2017

Liebert CB

3

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1 August 2017

Temper V

4

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1 August 2017

Maayan C

5

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1 August 2017

Gill S

6

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1 August 2017

Lucente DE

7

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1 August 2017

Idelson M

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1 August 2017

MacCormack K

9

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1 August 2017

Monahan MA

10

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1 August 2017

Mull J

11

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1 August 2017

Leyne M

12

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1 August 2017

Schiripo T

14

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1 August 2017

Mishori E

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1 August 2017

Axelrod FB

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1 August 2017

language of work or name

English

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publication date

1 April 1999

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American Journal of Human Genetics

1 August 2017

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1 August 2017

64

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1 August 2017

4

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1 August 2017

1110-1118

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Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Exclusion of familial dysautonomia from more than 60% of the genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

The 1993-94 Généthon human genetic linkage map

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Structural gene for beta-nerve growth factor not defective in familial dysautonomia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Altered nerve growth factor in fibroblasts from patients with familial dysautonomia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Familial dysautonomia: diagnosis, pathogenesis and management

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Reduced neuronotrophic activity of fibroblasts from individuals with dysautonomia in cultures of newborn mouse sensory ganglion cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

A second-generation linkage map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Construction of a GT polymorphism map of human 9q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Familial dysautonomia in a non-Jewish child

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Familial dysautonomia: unusual presentation in an infant of non-Jewish ancestry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Familial dysautonomia in a Hindu boy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Hunting for Huntington's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377835

Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency

27 October 2018

1 reference

12 December 2020

Familial dysautonomia: a prospective study of survival

1 reference

12 December 2020

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

12 December 2020

DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

12 December 2020

A case of new dysautonomia-like disorder found in Japan. I. Clinical and metabolic studies

1 reference

12 December 2020

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia

1 reference

12 December 2020

Familial dysautonomia associated with recurrent osteomyelitis in a non-Jewish girl

1 reference

12 December 2020

[Localization of the familial dysautonomia gene to chromosome 9q31-33 and the development of a genetic test for the disease]

1 reference

12 December 2020

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

1 reference

12 December 2020

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33

1 reference

12 December 2020

Identifiers

DOI

10.1086/302339

1 reference

1 August 2017

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1 August 2017

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