Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan (Q43441088)

23 November 2017

title

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan (English)

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23 November 2017

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M A Rafiq

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23 November 2017

M Ansar

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23 November 2017

C R Marshall

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23 November 2017

A Noor

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23 November 2017

N Shaheen

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23 November 2017

A Mowjoodi

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23 November 2017

M A Khan

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23 November 2017

G Ali

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23 November 2017

M Amin-ud-Din

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23 November 2017

L Feuk

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23 November 2017

J B Vincent

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23 November 2017

S W Scherer

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23 November 2017

publication date

1 November 2010

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23 November 2017

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23 November 2017

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23 November 2017

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23 November 2017

page(s)

478-483

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

23 November 2017

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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

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A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

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21 January 2018

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21 January 2018

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21 January 2018

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

21 January 2018

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Significance Levels in Complex Inheritance

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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

21 January 2018

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A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

21 January 2018

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

21 January 2018

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Neurotrypsin, a novel multidomain serine protease expressed in the nervous system

21 January 2018

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Multiple roles of neurotrypsin in tissue morphogenesis and nervous system development suggested by the mRNA expression pattern

21 January 2018

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Identification and functional characterization of cereblon as a binding protein for large-conductance calcium-activated potassium channel in rat brain

21 January 2018

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Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

21 January 2018

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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

21 January 2018

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A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

21 January 2018

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A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

21 January 2018

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Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

21 January 2018

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Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

21 January 2018

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Gene prioritization through genomic data fusion

21 January 2018

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Celsius: a community resource for Affymetrix microarray data

21 January 2018

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21 January 2018

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The prevalence and demographic characteristics of consanguineous marriages in Pakistan

21 January 2018

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10.1111/J.1399-0004.2010.01405.X

21 January 2018

Identifiers

DOI

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release_zomofvf32bferl2p6ppvkomkou

23 November 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/zomofvf32bferl2p6ppvkomkou

mapped directly with Wikidata item

24 November 2022

based on heuristic

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