Les médecins

Noonan Guidelines (PDF)

2015, « Arnold-Chiari Malformation in Noonan Syndrome and Other Syndromes of the RAS/MAPK Pathway »

2013, “Association between Noonan syndrome and Chiari I malformation: a case-based update.”(full article)

2012, Association between Noonan syndrome and Chiari I malformation: a case-based update (abstract)

Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation‐positive patients

2018 British Journal of Dermatology article

Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
Journal of Clinical Medicine, 2022, Jovanna Dahlgren and Cees Noordam

Response to long-term growth hormone therapy in patients affected by RAsopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
2015 article from American Journal of Medical Genetics, free abstract, full article for a fee

Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta-Analysis
This 2014 article from the Journal of Genetic Syndromes & Gene Therapy is available for free online.

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway
This 2012 article from American Journal of Medical Genetics is available for free online through Wiley Online Library.

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
2011/2012 article from Proceedings of the National Academy of Sciences of the United States of America

Somatropin Information from Drugs.com

Growth and Endocrine Issues in Noonan Syndrome: Current Recommendations –
This 2010 audiovisual presentation by Dr. Romano is a part of “Improving Care for Patients With Noonan Syndrome: Guidelines for Pediatricians” on Medscape (you must register to view, but it’s free).

These are some of the pharmaceutical companies that produce and sell growth hormone
Genotropin (Pfizer)
Humatrope (Lilly)
Norditropin (Novo Nordisk)  and Norditropin (USA)
Nutropin® (Genentech)
Omnitrope (Sandoz)
Saizen (EMD Serono)

RASopathies and Hemostatic Abnormalities: Key Role of Platelet Dysfunction
2021 preprint being considered for Orphanet Journal of Rare Diseases

Coagulation Abnormalities and Hemostatic Surgical Outcomes in 142 Patients with Noonan Syndrome
2016 article from Blood, journal of the American Society of Hematology

Hemostatic Abnormalities in Noonan Syndrome
2014 article from Pediatrics, the official journal of the American Academy of Pediatrics

Disordered Bleeding in Noonan’s Syndrome
This 2013 Noonan Syndrome Foundation webinar by Dr. Jason L. Freedman of The Children’s Hospital of Philadelphia is available for free on YouTube.

Bleeding disorders in Noonan syndrome
2012 article by Benjamin J. Briggs and Joseph D. Dickerman from Pediatric Blood & Cancer free abstract, full article for a fee

Imbalance of Plasminogen Activator Inhibitor Type-1 (PAI-1) and Tissue Plasminogen Activator (t-PA) Activity in Patients With Noonan Syndrome
2010 article from Journal of Pediatric Hematology/Oncology free abstract, full article for a fee

Audiological Findings In Noonan syndrome
2016 article from Pediatric Otorhinolaryngology  free abstract, full article for a fee

Otolaryngologic manifestations of Noonan syndrome
2015 article from Ear, Nose, and Throat Journal  free abstract, full article for a fee

External ear anomalies and hearing impairment in Noonan Syndrome
2015 article from International Journal of Pediatric Otorhinolaryngology

Maxillofacial features in patients with Noonan Syndrome
2017 article from WebmedCentral Orthodontics

Oral manifestations of Noonan syndrome: review of the literature and a report of four cases
2014 article from Romanian Journal of Morphology and Embryology

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
2012 article from American Journal of Medical Genetics  free abstract, full article for a fee

Systemic lupus erythematosus in a man with Noonan syndrome

2001, D M Martin, C F Gencyuz, E M Petty

Neuropsychological_FunctioningI (PDF)

Verhalten (ADHS/ADS)

PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention
2018 Cerebral Cortex article by Johnson, Ishak, Naylor, Stevenson, Reiss, and Green

Learning Disability in RASopthies
2017 chapter, by I Maccora et al, of Learning Disabilities – An International Perspective (edited by Carolyn S. Ryan)

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings
2014 Developmental Medicine & Child Neurology article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy E. Roberts

A podcast discussing this article can be found at www.youtube.com/watch?v=lZhFdJQuZGo&feature=youtu.be

Learning & Memory

Learning and memory in children with Noonan syndrome
2013 American Journal of Medical Genetics article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy Roberts  free abstract, full article for a fee (or can be rented for five minutes at no cost through DeepDyve)

Cognition, Learning and Behaviors in Noonan Syndrome
This 2013 Noonan Syndrome Foundation webinar by Dr. Rene Pierpont, is available for free on YouTube.

Genotype differences in cognitive functioning in Noonan syndrome
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, and M.S. Seidenberg was published in Genes, Brain, and Behavior  and is available for free online through NIH Public Access.

Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior:Cardiofaciocutaneous Syndrome and Noonan Syndrome
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, K. A. Rauen, and M.S. Seidenberg  was published in  The American Journal of Medical Genetics and is available for free online through University of Wisconsin’s Language and Cognitive Neuroscience Lab.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
2017 article from Clinical Care Research

Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling
This 2015 article from Blood Cancer Journal is available free online through Nature.com.

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities
2015 article from Blood

RAS Diseases In Children
2014 article from Haematologica, the journal of the European Hematology Association

“Blessing in Disguise”: Noonan Syndrome with JMML
2014 article from Archives of Disease in Childhood  free abstract, full article for a fee

 Juvenile myelomonocytic leukaemia and Noonan syndrome
2014 article from Journal of Medical Genetics  free abstract, full article for a fee

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
This 2011 article from European Journal of Human Genetics is available free online through Nature.com.

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
2018 article from European Journal of Pediatrics

Ocular manifestations of Noonan syndrome:  A prospective clinical and genetic study of 25 patients
2016 article from Ophthalmology free abstract, full article for a fee

Orthopaedic Conditions in Ras/MAPK Related Disorders
2011 article is from the Journal of Pediatric Orthopaedics free abstract, full article for a fee

Bone resorption in syndromes of the Ras/MAPK pathway
2011 article from Clinical Genetics:  An International Journal of Genetics, Molecular, and Personalized Medicine free abstract, full article for a fee

Psychopathological features in Noonan syndrome
2017 European Journal of Paediatric Neurology article by Perrino et al. free abstract, full article for a fee