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Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager

Clinical genetics, 2017-11, Vol.92 (5), p.540-543

2017

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Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

Clinical genetics, 2017-09, Vol.92 (3), p.332-337

2017

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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Clinical genetics, 2016-03, Vol.89 (3), p.359-366

2016

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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

Clinical genetics, 2017-05, Vol.91 (5), p.725-738

2017

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Neurology, 2005-01, Vol.64 (2), p.254

2005

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Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

Genetics in medicine, 2012-03, Vol.14 (3), p.285-292

2012

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Nature genetics, 2000-06, Vol.25 (2), p.205-208

2000

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Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein

American journal of human genetics, 2000-03, Vol.66 (3), p.859-872

2000

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The adult phenotype in Costello syndrome

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.128-135

2005

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622

2017

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Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3

The Journal of pediatrics, 1998-04, Vol.132 (4), p.714-716

1998

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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures

Neuropediatrics, 2004-12, Vol.35 (6), p.353

2004

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

American journal of human genetics, 1997-03, Vol.60 (3), p.555-564

1997

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Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report

Plastic and reconstructive surgery (1963), 2001-12, Vol.108 (7), p.1849-1854

2001

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Observation of a parental inversion variant in a rare williams-beuren syndrome family with two affected children

Human genetics, 2005-08, Vol.117 (4), p.383-388

2005

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Tumor predisposition in Costello syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.72-77

Gripp, Karen W.

2005

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191: Pediatric Resident Driven Health Advocacy Projects: Five Years of Success

Paediatrics & child health, 2015-06, Vol.20 (5), p.e102-e102

2015

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

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22q11.2 deletion syndrome and selective igm deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency

American journal of medical genetics, 2004-05, Vol.127A (1), p.99-100

2004

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Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2258-2265

2013

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Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128-135, 2005)

American journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.55-55

2005

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Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda

Skeletal radiology, 1997-02, Vol.26 (2), p.131-133

1997

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Imaging studies in a unique familial dysmyelinating disorder

American journal of neuroradiology : AJNR, 1998-08, Vol.19 (7), p.1368-1372

1998

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HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.1-7

2006

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Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein

The adult phenotype in Costello syndrome

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report

Observation of a parental inversion variant in a rare williams-beuren syndrome family with two affected children

Tumor predisposition in Costello syndrome

191: Pediatric Resident Driven Health Advocacy Projects: Five Years of Success

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

22q11.2 deletion syndrome and selective igm deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency

Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory

Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128-135, 2005)

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda

Imaging studies in a unique familial dysmyelinating disorder

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

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