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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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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Pediatric neurology, 2009-09, Vol.41 (3), p.187-191

2009

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.370-377

2006

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Mutations in MED12 Cause X-Linked Ohdo Syndrome

American journal of human genetics, 2013-03, Vol.92 (3), p.401-406

2013

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A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2)

Nature genetics, 1996-01, Vol.12 (1), p.103-105

1996

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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Cell, 1999-10, Vol.99 (2), p.143-153

1999

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American journal of human genetics, 2004-06, Vol.74 (6), p.1239-1248

2004

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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Gene, 2012-12, Vol.511 (2), p.451-454

2012

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X-linked mental retardation

Nature reviews. Genetics, 2005-01, Vol.6 (1), p.46-57

2005

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A cytogenetic study in a large population of intellectually disabled Indonesians

Genetic testing and molecular biomarkers, 2012-05, Vol.16 (5), p.412-417

2012

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Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Human molecular genetics, 1995-04, Vol.4 (4), p.583-587

1995

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Nature genetics, 2009-07, Vol.41 (7), p.829-832

2009

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Journal of medical genetics, 2012-03, Vol.49 (3), p.179-183

2012

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Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Annals of neurology, 2009-06, Vol.65 (6), p.687-697

2009

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Nature genetics, 2004-09, Vol.36 (9), p.955-957

2004

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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Journal of medical genetics, 2011-12, Vol.48 (12), p.810-818

2011

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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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Ellis‐van Creveld syndrome in a patient from Tanzania

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2034-2038

2019

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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

American journal of human genetics, 2002-12, Vol.71 (6), p.1450-1455

2002

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The clinical spectrum of complete FBN1 allele deletions

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.247-252

2011

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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

American journal of human genetics, 2007-09, Vol.81 (3), p.507-518

2007

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

American journal of human genetics, 2001-09, Vol.69 (3), p.481-492

2001

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Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

The New England journal of medicine, 1992-03, Vol.326 (12), p.807-811

1992

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human molecular genetics, 2001-02, Vol.10 (3), p.221-229

2001

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

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Mutations in MED12 Cause X-Linked Ohdo Syndrome

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2)

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

X-linked mental retardation

A cytogenetic study in a large population of intellectually disabled Indonesians

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

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

Ellis‐van Creveld syndrome in a patient from Tanzania

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

The clinical spectrum of complete FBN1 allele deletions

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

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