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Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13, p.951331

2022

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Variants in nuclear factor I genes influence growth and development

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.611-626

2019

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-235, Article 235

2022

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The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time

International journal of environmental research and public health, 2023-03, Vol.20 (5), p.4573

2023

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Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

International journal of pediatric otorhinolaryngology, 2013-11, Vol.77 (11), p.1801-1804

2013

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.38-38, Article 38

2011

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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

TheScientificWorld, 2012-01, Vol.2012 (2012), p.1-8

2012

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NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

European journal of medical genetics, 2015-09, Vol.58 (9), p.488-491

2015

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Nuclear Factor One X Mice model for Malan syndrome: the less the better

EBioMedicine, 2019-01, Vol.39, p.15-16

Priolo, Manuela

2019

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Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms

American journal of medical genetics. Part A, 2009-09, Vol.149A (9), p.2003-2013

Priolo, Manuela

2009

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Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of human genetics, 2007-12, Vol.52 (12), p.1011-1017

2007

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The Target Therapy Hyperbole: "KRAS (p.G12C)"-The Simplification of a Complex Biological Problem

Cancers, 2024-06, Vol.16 (13), p.2389

2024

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Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-06, Vol.193 (2), p.160-166

2023

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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.805-814

2023

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Pregnancy in a patient with Rothmund‐Thomson type 2 syndrome

International journal of gynecology and obstetrics, 2021-07, Vol.154 (1), p.181-182

2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

American journal of human genetics, 2021-03, Vol.108 (3), p.502-516

2021

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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

European journal of human genetics : EJHG, 2024-07, Vol.32 (7), p.819-826

2024

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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Human molecular genetics, 2022-08, Vol.31 (16), p.2766-2778

2022

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The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences - PNAS, 2024-03, Vol.121 (12), p.e2317601121-e2317601121

2024

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SHP2 's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction

Clinical genetics, 2022-07, Vol.102 (1), p.12-21

2022

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From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Human mutation, 2016-02, Vol.37 (2), p.175-183

2016

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.954-963

2024

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Further delineation of Malan syndrome

Human mutation, 2018-09, Vol.39 (9), p.1226-1237

2018

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Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns

Variants in nuclear factor I genes influence growth and development

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

Nuclear Factor One X Mice model for Malan syndrome: the less the better

Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

The Target Therapy Hyperbole: "KRAS (p.G12C)"-The Simplification of a Complex Biological Problem

Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

Pregnancy in a patient with Rothmund‐Thomson type 2 syndrome

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

SHP2 's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Further delineation of Malan syndrome

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

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