Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. (Q51829364)

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scientific article published on 10 November 2010

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English	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.	scientific article published on 10 November 2010

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scholarly article

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16 January 2020

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots (English)

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Farkhondeh Behjati

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Hossein Najmabadi

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Masoud Garshasbi

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Anna Rajab

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Andreas Walter Kuss

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Andreas Tzschach

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Hossein Darvish

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Lia Abbasi-Moheb

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Lucia Puettmann

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Agnes Zecha

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Robert Weissmann

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Hao Hu

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Marzieh Mohseni

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Seyedeh Sedigheh Abedini

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Christoph Hertzberg

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Dagmar Wieczorek

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16 January 2020

Reinhard Ullmann

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Saghar Ghasemi-Firouzabadi

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Susan Banihashemi

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Sanaz Arzhangi

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Valeh Hadavi

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Gholamreza Bahrami-Monajemi

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Mahboubeh Kasiri

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Pooneh Nikuei

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Atefeh Dehghan

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Masoumeh Sobhani

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Payman Jamali

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Hans Hilger Ropers

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publication date

10 November 2010

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141-148

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0907-3

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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

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Consanguinity and its relevance to clinical genetics.

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The costs of human inbreeding and their implications for variations at the DNA level

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Why do UK-born Pakistani babies have high perinatal and neonatal mortality rates?

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Prevalence and correlates of mental retardation among children in Karachi, Pakistan

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

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

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Molecular and comparative genetics of mental retardation

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Consanguinity and its effect on fetal growth and development: a south Indian study

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

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

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

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

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

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

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Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study

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

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X-linked mental retardation

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1 reference

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Identifiers

10.1007/S00439-010-0907-3

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