about
Congenital cataracts-facial dysmorphism-neuropathyReconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspectiveMitochondrial DNA diversity in the Polish RomaH1 tau haplotype-related genomic variation at 17q21.3 as an Asian heritage of the European Gypsy populationEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Reconstructing Roma history from genome-wide dataPersistence of the common Hartnup disease D173N allele in populations of European origin.LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomesFounder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche familiesMARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.Muscle and neuronal nicotinic acetylcholine receptors. Structure, function and pathogenicity.Origins, admixture and founder lineages in European Roma.Null mutations in LTBP2 cause primary congenital glaucoma.Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature.Nicotinic acetylcholine receptors in human genetic disease.Clinical applications and implications of common and founder mutations in Indian subpopulations.Prevalence of URAT1 allelic variants in the Roma population.HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.Carrier rates of four single-gene disorders in Croatian Bayash Roma.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Refining the genetic portrait of Portuguese Roma through X-chromosomal markers.Vitamin K epoxide reductase complex 1 (VKORC1) haplotypes in healthy Hungarian and Roma population samples.A genetic historical sketch of European Gypsies: The perspective from autosomal markers.High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.Unique frequencies of HFE gene variants in Roma/Gypsies.ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.Is the Definition of Roma an Important Matter? The Parallel Application of Self and External Classification of Ethnicity in a Population-Based Health Interview Survey.Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country.DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids.A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutation history of the roma/gypsies.
@ast
Mutation history of the roma/gypsies.
@en
type
label
Mutation history of the roma/gypsies.
@ast
Mutation history of the roma/gypsies.
@en
prefLabel
Mutation history of the roma/gypsies.
@ast
Mutation history of the roma/gypsies.
@en
P2093
P2860
P356
P1476
Mutation history of the roma/gypsies.
@en
P2093
Agnes Herczegfalvi
Attila Tordai
Carolin Schmidt
David Beeson
David Gresham
Dora Angelicheva
Hanns Lochmuller
Ivailo Tournev
Jeff Reeve
Kim Warwick Carter
P2860
P304
P356
10.1086/424759
P407
P577
2004-08-20T00:00:00Z