(Q40301935)

19 September 2017

title

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). (English)

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19 September 2017

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Myrna Medlej-Hashim

5

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Alessandro Gialluisi

object named as

Alessandro Gialluisi

1

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Tommaso Pippucci

2

object named as

Tommaso Pippucci

1 reference

19 September 2017

Yair Anikster

3

1 reference

19 September 2017

Ugur Ozbek

4

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19 September 2017

Andre Mégarbané

6

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19 September 2017

Giovanni Romeo

7

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19 September 2017

language of work or name

English

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publication date

21 December 2011

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19 September 2017

published in

Annals of Human Genetics

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19 September 2017

volume

76

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19 September 2017

issue

2

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19 September 2017

page(s)

159-167

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A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population

19 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Estimating human inbreeding coefficients: comparison of genealogical and marker heterozygosity approaches.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Familial mediterranean fever in Arabs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Estimation of the inbreeding coefficient through use of genomic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Runs of homozygosity in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Variations in genotype-phenotype correlations in phenylketonuria patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

The spectrum of Familial Mediterranean Fever (FMF) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

ETHNOS : A versatile electronic tool for the development and curation of national genetic databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

Collaborative genomics for human health and cooperation in the Mediterranean region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00693.X

10.1111/J.1469-1809.2011.00693.X

21 January 2018

Identifiers

DOI

1 reference

19 September 2017

1 reference