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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Nature genetics, 2007-09, Vol.39 (9), p.1120-1126

2007

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453

2005

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Human mutation, 2011-10, Vol.32 (10), p.1114-1117

2011

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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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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Human mutation, 2007-10, Vol.28 (10), p.1034-1042

2007

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Pfeiffer syndrome

Orphanet journal of rare diseases, 2006-06, Vol.1 (1), p.19-19, Article 19

2006

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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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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Genes chromosomes & cancer, 2010-03, Vol.49 (3), p.242-252

2010

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Nature genetics, 2001-03, Vol.27 (3), p.313-317

2001

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Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study

Human mutation, 2005-02, Vol.25 (2), p.125-134

2005

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Nature genetics, 1999-01, Vol.21 (1), p.142-144

1999

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Angelman syndrome (AS, MIM 105830)

European journal of human genetics : EJHG, 2009-11, Vol.17 (11), p.1367-1373

2009

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PTEN mutation in a family with Cowden syndrome and autism

American journal of medical genetics, 2001-08, Vol.105 (6), p.521-524

2001

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Journal of medical genetics, 2007-09, Vol.44 (9), p.562-jmg

2007

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FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Nature genetics, 2002-04, Vol.30 (4), p.436-440

2002

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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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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Human genetics, 2007-06, Vol.121 (5), p.539-547

2007

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

American journal of human genetics, 2003-06, Vol.72 (6), p.1359-1369

2003

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Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

American journal of human genetics, 2009-08, Vol.85 (2), p.204-213

2009

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Pfeiffer syndrome

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

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Angelman syndrome (AS, MIM 105830)

PTEN mutation in a family with Cowden syndrome and autism

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

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

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

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