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Affective functioning and social cognition in Noonan syndrome

Psychological medicine, 2012-02, Vol.42 (2), p.419-426

2012

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Impaired Sertoli Cell Function in Males Diagnosed with Noonan Syndrome

Journal of Pediatric Endocrinology and Metabolism, 2008-11, Vol.21 (11), p.1079-1084

2008

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Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Journal of medical genetics, 2010-09, Vol.47 (9), p.586-594

2010

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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Clinical genetics, 2018-04, Vol.93 (4), p.880-890

2018

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Cognitive functioning of adults with Noonan syndrome: a case–control study

Genes, brain and behavior, 2012-10, Vol.11 (7), p.785-793

2012

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Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Journal of medical genetics, 2007-07, Vol.44 (7), p.459-462

2007

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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Clinical genetics, 2008-01, Vol.73 (1), p.62-70

2008

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A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

American journal of medical genetics, 2005-01, Vol.132A (2), p.171-174

2005

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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Human mutation, 2013-11, Vol.34 (11), p.1519-1528

2013

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P02-224 - Behavioural phenotype of noonan syndrome in adulthood

European psychiatry, 2011, Vol.26, p.820-820

2011

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Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Nature genetics, 1997-09, Vol.17 (1), p.18-19

1997

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Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

Prenatal diagnosis, 2010-03, Vol.30 (3), p.284-286

2010

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Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

Molecular syndromology, 2013-06, Vol.4 (5), p.227-234

2013

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The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

European journal of pediatrics, 1994-06, Vol.153 (6), p.438-445

1994

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Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

American journal of human genetics, 2006-02, Vol.78 (2), p.279-290

2006

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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.465-468

2001

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Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment

Clinical endocrinology (Oxford), 2001-01, Vol.54 (1), p.53-59

2001

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Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

American journal of medical genetics, 1991-12, Vol.41 (3), p.371-380

1991

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Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial

Acta Paediatrica, 2001-08, Vol.90 (8), p.889-894

2001

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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Human molecular genetics, 2014-08, Vol.23 (16), p.4315-4327

2014

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Calculation of the Absorption Cross Sections of Some Molecules from GEISA Database at the Wavelengths of Isotopically Different CO2 Lasers

ISRN analytical chemistry, 2013-11, Vol.2013

2013

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Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

American journal of human genetics, 1998-09, Vol.63 (3), p.803-809

1998

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Dysmorphology at a distance: results of a web-based diagnostic service

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.327-332

2014

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Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome

Hormone research, 2001-01, Vol.56 (3-4), p.110-113

2001

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Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

Prenatal diagnosis, 2002-05, Vol.22 (5), p.433-436

2002

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Affective functioning and social cognition in Noonan syndrome

Impaired Sertoli Cell Function in Males Diagnosed with Noonan Syndrome

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Cognitive functioning of adults with Noonan syndrome: a case–control study

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

P02-224 - Behavioural phenotype of noonan syndrome in adulthood

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Calculation of the Absorption Cross Sections of Some Molecules from GEISA Database at the Wavelengths of Isotopically Different CO2 Lasers

Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

Dysmorphology at a distance: results of a web-based diagnostic service

Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

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