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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.552-559

2017

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Clinical and genetic characterization of manifesting carriers of DMD mutations

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.499-504

2010

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A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma ( NEMO)

American journal of human genetics, 2000-12, Vol.67 (6), p.1555-1562

2000

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.57-63

2014

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Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A

The Journal of biological chemistry, 2001-06, Vol.276 (22), p.18819-18827

2001

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Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Journal of medical genetics, 2012-02, Vol.49 (2), p.110-118

2012

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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations

American journal of human genetics, 1998-08, Vol.63 (2), p.380-389

1998

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Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Nature genetics, 1999-08, Vol.22 (4), p.366-369

1999

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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Orphanet journal of rare diseases, 2016-11, Vol.11 (1), p.149-149, Article 149

2016

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Nature genetics, 1996-08, Vol.13 (4), p.409-416

1996

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Mutations within a Furin Consensus Sequence Block Proteolytic Release of Ectodysplasin-A and cause X-Linked Hypohidrotic Ectodermal Dysplasia

Proceedings of the National Academy of Sciences - PNAS, 2001-06, Vol.98 (13), p.7218-7223

2001

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Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II)

American journal of medical genetics. Part A, 2009-09, Vol.149A (9), p.2062-2067

2009

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3308-3312

2016

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Genetics in medicine, 2021-12, Vol.23 (12), p.2378-2385

2021

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Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

The journal of clinical endocrinology and metabolism, 2012-11, Vol.97 (11), p.E2140-E2151

2012

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Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Human molecular genetics, 2012-06, Vol.21 (11), p.2572-2587

2012

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Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Nature (London), 2001-12, Vol.414 (6866), p.913-916

2001

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Genetics in medicine, 2009-11, Vol.11 (11), p.797-805

2009

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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

European journal of human genetics : EJHG, 2000-05, Vol.8 (5), p.372-380

2000

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Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections

Pediatric dermatology, 2014-11, Vol.31 (6), p.716-721

2014

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Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

The Journal of clinical investigation, 2002-06, Vol.109 (11), p.1501-1509

2002

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Clinical and genetic characterization of manifesting carriers of DMD mutations

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma ( NEMO)

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Mutations within a Furin Consensus Sequence Block Proteolytic Release of Ectodysplasin-A and cause X-Linked Hypohidrotic Ectodermal Dysplasia

Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

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