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GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

American journal of medical genetics. Part A, 2019-01, Vol.179 (1), p.13-19

2019

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Nature genetics, 1999-09, Vol.23 (1), p.25-31

1999

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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Human mutation, 2011-12, Vol.32 (12), p.1427-1435

2011

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature genetics, 2000-02, Vol.24 (2), p.167-170

2000

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Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.523-524

2005

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Genomic Organization and Chromosomal Assignment of the Human Voltage-Gated Na+ Channel β1 Subunit Gene (SCN1B)

Genomics (San Diego, Calif.), 1994-10, Vol.23 (3), p.628-634

1994

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The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

American journal of human genetics, 1995-05, Vol.56 (5), p.1096-1100

1995

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Molecular Genetics of X-Linked Hearing Impairment

Annals of the New York Academy of Sciences, 1991-01, Vol.630 (1), p.176-190

1991

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X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

Clinical genetics, 1985-09, Vol.28 (3), p.238-242

1985

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Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

Clinical genetics, 1985-03, Vol.27 (3), p.282-283

1985

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Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

Clinical genetics, 1982-07, Vol.22 (1), p.25-29

1982

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Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk

Clinical genetics, 1976-06, Vol.9 (6), p.545-552

1976

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Human molecular genetics, 2008-02, Vol.17 (3), p.458-465

2008

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X-linked mental retardation: many genes for a complex disorder

Current opinion in genetics & development, 2006-06, Vol.16 (3), p.260-269

Ropers, Hans-Hilger

2006

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Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Nature genetics, 2000-10, Vol.26 (2), p.247-250

2000

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Genome-wide copy number variation analysis in attention-deficit hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

Molecular psychiatry, 2011-05, Vol.16 (5), p.491-503

2011

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New Perspectives for the Elucidation of Genetic Disorders

American journal of human genetics, 2007-08, Vol.81 (2), p.199-207

Ropers, Hans-Hilger

2007

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MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Nature genetics, 2001-11, Vol.29 (3), p.287-294

2001

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

American journal of human genetics, 2004-07, Vol.75 (1), p.97-105

2004

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

American journal of human genetics, 2004-03, Vol.74 (3), p.552-557

2004

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

American journal of human genetics, 2003-06, Vol.72 (6), p.1401-1411

2003

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.232-240

2007

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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 ( CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

American journal of human genetics, 2004-12, Vol.75 (6), p.1149-1154

2004

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GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

Genomic Organization and Chromosomal Assignment of the Human Voltage-Gated Na+ Channel β1 Subunit Gene (SCN1B)

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

Molecular Genetics of X-Linked Hearing Impairment

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

X-linked mental retardation: many genes for a complex disorder

Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Genome-wide copy number variation analysis in attention-deficit hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

New Perspectives for the Elucidation of Genetic Disorders

MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 ( CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

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