(Q21261472)

Dimensions

17 August 2022

L Kalaydjieva

1

Luba

Kalaydjieva

1 reference

Dimensions

1001607359

17 August 2022

D Gresham

series ordinal

2

author given names

David

author last names

Gresham

1 reference

Dimensions

1001607359

https://scigraph.springernature.com/pub.10.1186/1471-2350-2-5

17 August 2022

language of work or name

English

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publication date

2001

0 references

published in

BMC Medical Genetics

0 references

volume

2

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page(s)

5

0 references

issue

1

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exact match

0 references

cites work

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

1 reference

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

19 March 2017

1 reference

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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

19 March 2017

1 reference

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Disease gene mapping in isolated human populations: the example of Finland

19 March 2017

1 reference

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Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data

19 March 2017

1 reference

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The neighbor-joining method: a new method for reconstructing phylogenetic trees

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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

19 March 2017

1 reference

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Confidence Limits on Phylogenies: an Approach using the Bootstrap

19 March 2017

1 reference

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Estimation of the coancestry coefficient: basis for a short-term genetic distance

22 April 2017

1 reference

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Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families

7 April 2017

1 reference

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The health of the Roma people: a review of the published literature

12 September 2017

1 reference

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

12 September 2017

1 reference

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Molecular genetics of the Finnish disease heritage.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

12 September 2017

1 reference

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Glanzmann-Naegeli thrombasthenia. Study of a strongly endogamous ethnic group

12 September 2017

1 reference

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Prevalence of congenital anomaly syndromes in a Spanish gypsy population

12 September 2017

1 reference

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Genetic markers in Welsh gypsies

12 September 2017

1 reference

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Genetic structure of the Greek gypsies

12 September 2017

1 reference

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High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies

27 September 2017

1 reference

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The health of Gypsies. Problem of caring for travellers is British, not just European

30 May 2018

1 reference

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HMSNL in a 13-year-old Bulgarian girl

30 May 2018

1 reference

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

30 May 2018

1 reference

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Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

30 May 2018

1 reference

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Genetic structure in relation to the history of Hungarian ethnic groups.

30 May 2018

1 reference

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Some genetic markers in Valachian (Olachian) Gypsies in Slovakia.

30 May 2018

1 reference

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The HLA antigen distribution in the Gipsy population in Hungary

30 May 2018

1 reference

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On the anthropology of a Swedish Gypsy population.

30 May 2018

1 reference

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Gypsy isolates in Slovenia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

The blood groups of the Brahmins and Rajputs of Garhwal

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

Genetic polymorphism of the Gypsy population in Hungary as based on studies of red blood cell antigens

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

Distribution of HLA antigens in Spanish Gypsies: a comparative study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

The Presentation of Congenital Glaucoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-2-5

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-2-5

Distribution of three red-cell enzyme polymorphisms (ACP, PGM1and AK) in gypsies from Slovakia (Czechoslovakia)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-2-5

DISTRIBUTIONS OF BLOOD AND SERUM GROUPS IN A SWEDISH GYPSY POPULATION.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

A genetic profile of Romany (Gypsy) subethnic group from a single region in Slovakia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=31389

Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

29 November 2018

1 reference

12 December 2020

[Occurrence of phenylketonuria in Bohemia & Moravia.]

1 reference

12 December 2020

Origin of the Romany gypsies--genetic evidence

1 reference

12 December 2020

The stigma of disease: implications of genetic screening

1 reference

12 December 2020

The combination of blood groups in a sample of 250 people

1 reference

12 December 2020

Marginality, ethnic groups and health

1 reference

12 December 2020

Rh Gene Frequencies in Britain

1 reference

12 December 2020

A high incidence of PKD in a large geographic area of south-western Hungary: a medical genetic study

1 reference

12 December 2020

Hereditary torsion dystonia in gypsies

1 reference

12 December 2020

ABO,MN, Rh blood groups, Hp types and Hp level, Gm(1) factor investigations on the Gypsy population of Hungary

1 reference

12 December 2020

Red cell enzyme polymorphisms in Punjabis in north India

1 reference

12 December 2020

Haptoglobin Types in Gypsies from Slovakia (Czechoslovakia)

1 reference

12 December 2020

Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn

1 reference

12 December 2020

[A case of galactosemia caused by galactokinase deficiency]

1 reference

12 December 2020

Congenital glaucoma in Gypsies from Slovakia

1 reference

12 December 2020

Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset

1 reference

12 December 2020

Jewish diseases and origins

1 reference

12 December 2020

Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia

1 reference

12 December 2020

Blood groups of Roms (Gypsies) in Czechoslovakia

1 reference

12 December 2020

[Some aspects of congenital glaucoma (author's transl)]

1 reference

12 December 2020

Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area

1 reference

12 December 2020

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34

1 reference

12 December 2020

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia

1 reference

12 December 2020

[Analysis of the risk of congenital defects in different ethnic groups in Spain]

1 reference

12 December 2020

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene

1 reference

12 December 2020

One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada)

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-2-5

0 references

release_qhhbncybsrhuxchzbjsvuhr2om

1001607359

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qhhbncybsrhuxchzbjsvuhr2om

24 November 2022