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X-linked mental retardation

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

2005

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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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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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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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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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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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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Journal of medical genetics, 2005-10, Vol.42 (10), p.780-786

2005

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The p63 gene in EEC and other syndromes

Journal of medical genetics, 2002-06, Vol.39 (6), p.377-381

2002

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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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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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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.299-306

2005

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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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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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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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X-linked mental retardation: further lumping, splitting and emerging phenotypes

Clinical genetics, 2005-06, Vol.67 (6), p.451-467

2005

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Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Journal of neurology, 2009, Vol.256 (1), p.13-27

2009

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

Journal of medical genetics, 2006-04, Vol.43 (4), p.362-370

2006

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ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

American journal of human genetics, 2006-02, Vol.78 (2), p.265-278

2006

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Renpenning syndrome comes into focus

American journal of medical genetics. Part A, 2005-05, Vol.134A (4), p.415-421

2005

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XLMR genes: update 2000

European journal of human genetics : EJHG, 2001-02, Vol.9 (2), p.71-81

2001

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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

American journal of human genetics, 1996-10, Vol.59 (4), p.781-792

1996

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Journal of medical genetics, 2004-05, Vol.41 (5), p.394-399

2004

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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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A cytogenetic study in a large population of intellectually disabled Indonesians

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

2012

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X-linked mental retardation

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

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

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

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

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

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

The p63 gene in EEC and other syndromes

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

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

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

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

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

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

X-linked mental retardation: further lumping, splitting and emerging phenotypes

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

Renpenning syndrome comes into focus

XLMR genes: update 2000

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

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

A cytogenetic study in a large population of intellectually disabled Indonesians

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