Mutation history of the roma/gypsies (Q33910151)

30 July 2017

title

Mutation history of the roma/gypsies (English)

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30 July 2017

Bharti Morar

1

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Angela Abicht

8

object named as

Angela Abicht

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30 July 2017

9

Hanns Lochmuller

2 references

30 July 2017

ORCID Public Data File 2021

Luba Kalaydjieva

22

object named as

Luba Kalaydjieva

1 reference

30 July 2017

14

Marc Jeanpierre

1 reference

30 July 2017

David Gresham

2

1 reference

30 July 2017

Dora Angelicheva

3

1 reference

30 July 2017

Ivailo Tournev

4

1 reference

30 July 2017

Rebecca Gooding

5

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30 July 2017

Velina Guergueltcheva

6

1 reference

30 July 2017

Carolin Schmidt

7

1 reference

30 July 2017

Attila Tordai

10

1 reference

30 July 2017

Lajos Kalmar

11

1 reference

30 July 2017

Melinda Nagy

12

1 reference

30 July 2017

Veronika Karcagi

13

1 reference

30 July 2017

Agnes Herczegfalvi

15

1 reference

30 July 2017

David Beeson

16

1 reference

30 July 2017

Viswanathan Venkataraman

17

1 reference

30 July 2017

Kim Warwick Carter

18

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30 July 2017

Jeff Reeve

19

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30 July 2017

Rosario de Pablo

20

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30 July 2017

Vaidutis Kucinskas

21

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30 July 2017

language of work or name

English

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publication date

20 August 2004

1 reference

American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

75

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30 July 2017

issue

4

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30 July 2017

page(s)

596-609

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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Finnish Disease Heritage II: population prehistory and genetic roots of Finns

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Gene finding in genetically isolated 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=1182047

A high-resolution recombination map of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Genetics of population isolates.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Origins and divergence of the Roma (gypsies)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Human genetics: lessons from Quebec 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=1182047

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Genetic studies of the Roma (Gypsies): a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Maximum likelihood estimation of a migration matrix and effective population sizes in n subpopulations by using a coalescent approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Use of population isolates for mapping complex traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Population choice in mapping genes for complex diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic 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=1182047

Molecular genetics of the Finnish disease heritage.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Genealogical inference from microsatellite data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Maximum likelihood estimation of population growth rates based on the coalescent

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Likelihood analysis of disequilibrium mapping, and related problems

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium 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=1182047

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

The neighbor-joining method: a new method for reconstructing phylogenetic 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=1182047

Performing the exact test of Hardy-Weinberg proportion for multiple alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

DMLE+: Bayesian linkage disequilibrium gene mapping.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

A genetic profile of contemporary Jewish populations

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182047

Population genomics: laying the groundwork for genetic disease modeling and targeting

29 October 2018

1 reference

12 December 2020

The value of isolated populations

1 reference

12 December 2020

GOLD--graphical overview of linkage disequilibrium

1 reference

12 December 2020

Use of isolated inbred human populations for identification of disease genes

1 reference

12 December 2020

Vlax Roma history: what do coalescent-based methods tell us?

1 reference

12 December 2020

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

1 reference

12 December 2020

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1 reference

12 December 2020

Dissecting a population genome for targeted screening of disease mutations

1 reference

12 December 2020

Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources

1 reference

12 December 2020

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

1 reference

12 December 2020

Jewish diseases and origins

1 reference

12 December 2020

Identifiers

DOI

10.1086/424759

1 reference

30 July 2017

1 reference

30 July 2017

1 reference