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Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

Molecular psychiatry, 2018-10, Vol.23 (10), p.2050-2056

2018

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Translational psychiatry, 2011-11, Vol.1 (11), p.e55-e55

2011

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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Molecular psychiatry, 2011-08, Vol.16 (8), p.867-880

2011

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The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

Cell, 1992-10, Vol.71 (3), p.527-542

1992

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A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Nature (London), 1991-01, Vol.349 (6304), p.38-44

1991

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Nature genetics, 1998-02, Vol.18 (2), p.164-167

1998

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A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

Human molecular genetics, 1994-07, Vol.3 (7), p.1133-1139

1994

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Localization of the X inactivation centre on the human X chromosome in Xq13

Nature (London), 1991-01, Vol.349 (6304), p.82-84

1991

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Instability of the EPM1 Minisatellite

Human molecular genetics, 1999-10, Vol.8 (11), p.1985-1988

1999

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Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia

Human molecular genetics, 1994-07, Vol.3 (7), p.1053-1059

1994

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Human molecular genetics, 2008-12, Vol.17 (24), p.3965-3974

2008

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A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q

Genomics (San Diego, Calif.), 1999-02, Vol.56 (1), p.127-130

1999

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Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

American journal of human genetics, 2010-09, Vol.87 (3), p.316-324

2010

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Complete deletion of the androgen receptor gene : definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status

The journal of clinical endocrinology and metabolism, 1992-04, Vol.74 (4), p.927-933

1992

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A 405-kb Cosmid Contig and HindIII Restriction Map of the Progressive Myoclonus Epilepsy Type 1 (EPM1) Candidate Region in 21q22.3

Genomics (San Diego, Calif.), 1995-09, Vol.29 (1), p.288-290

1995

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Mechanisms of uptake and resistance to troxacitabine, a novel deoxycytidine nucleoside analogue, in human leukemic and solid tumor cell lines

Cancer research (Chicago, Ill.), 2001-10, Vol.61 (19), p.7217-7224

2001

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2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

Human molecular genetics, 1993-08, Vol.2 (8), p.1105-1115

1993

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An 18-locus linkage map of the pericentromeric region of the human X chromosome: Genetic framework for mapping X-linked disorders

Genomics (San Diego, Calif.), 1991-08, Vol.10 (4), p.849-857

1991

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Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

Genomics (San Diego, Calif.), 1992-06, Vol.13 (2), p.479-480

1992

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Analysis of 14 CAG repeat-containing genes in schizophrenia

American journal of medical genetics, 1999-12, Vol.88 (6), p.694-699

1999

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Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3

Genome research, 1996-12, Vol.6 (12), p.1216-1226

1996

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Genomic structure of the human GT334 ( EHOC-1) gene mapping to 21q22.3

Gene, 1997-10, Vol.198 (1), p.313-321

1997

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Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1

Cytogenetic and genome research, 1991-01, Vol.56 (3-4), p.178-181

1991

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Pulsed-Field Map of Xq13 in the Region of the Human X Inactivation Center

Genomics (San Diego, Calif.), 1993-08, Vol.17 (2), p.502-506

1993

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Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

Localization of the X inactivation centre on the human X chromosome in Xq13

Instability of the EPM1 Minisatellite

Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

Complete deletion of the androgen receptor gene : definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status

A 405-kb Cosmid Contig and HindIII Restriction Map of the Progressive Myoclonus Epilepsy Type 1 (EPM1) Candidate Region in 21q22.3

Mechanisms of uptake and resistance to troxacitabine, a novel deoxycytidine nucleoside analogue, in human leukemic and solid tumor cell lines

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

An 18-locus linkage map of the pericentromeric region of the human X chromosome: Genetic framework for mapping X-linked disorders

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

Analysis of 14 CAG repeat-containing genes in schizophrenia

Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3

Genomic structure of the human GT334 ( EHOC-1) gene mapping to 21q22.3

Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1

Pulsed-Field Map of Xq13 in the Region of the Human X Inactivation Center

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