Scroll down to find links related to Noonan syndrome, in the following categories:
General Information, Resources, Diagnosis, Cardiology, Cognition/Behavior/Language,
Dermatology, Feeding, Gastroenterology, Growth, Hematology, Lymphatic, Motor Development, Oncology, Ophthalmology, Oral & Maxillofacial (dental, orthodontics, & multiple giant cell lesions), Orthopedics, Otolaryngology, Pain, Other Journal Articles, Organizations & Online Groups, Research Opportunities, Blogs/Vlogs/Podcasts, and Miscellaneous.
I do my best to keep this list updated and hope you find it useful. If you find any broken links or know of an article, blog, or research opportunity that you think should be added, please contact me.
· Noonan syndrome: improving recognition and diagnosis
2022 article by Martin Zenker, Thomas Edouard, Joanne C Blair, and Marco Cappa from Archives of Disease in Childhood
· Noonan syndrome
2013 article by Amy E. Roberts, Judith E. Allanson, Marco Tartaglia, and Bruce
D. Gelb from The Lancet free abstract,
full article for a fee
· Noonan Syndrome: Clinical Features, Diagnosis, and
Management Guidelines
This 2010 article was published in Pediatrics, the official journal
of the American Academy of Pediatrics. free abstract,
full article for a fee
· Gene Reviews: Noonan Syndrome
This was written by Dr. Amy Roberts. It was last updated on February 17,
2022. The "Revision History" at the bottom of the page is
helpful in quickly checking out what is new.
· Noonan Syndrome Article at MedScape
This was last updated on May 18, 2020.
· Noonan Syndrome at National Organization for Rare
Disorders (NORD)
This was updated in 2019.
· "Noonan Syndrome" at Medline Plus,
National Library of Medicine of National Institutes of Health (NIH)
This was last updated August 18, 2020.
· "Noonan Syndrome" in MedlinePlus Medical
Encyclopedia, National Library of Medicine of National Institutes of Health
(NIH)
This was last reviewed on January 28, 2020.
· "About
Noonan Syndrome" from National Human Genome Research Institute of National
Institutes of Health (NIH)
This was last updated in Dec. 2013.
· "Noonan Syndrome" at
MayoClinic.com
This was last updated in 2023.
· “What Are The RASopathies?” 2016 video from RASopathies Net and YourekaScience (edited in 2021)
· Overview of the genetics of Noonan syndrome
This 2014 Noonan Syndrome Foundation webinar by Dr. Patroula Smpokou, a geneticist, is available for free on YouTube.
· "Genetics 101"
This 2013 RASopathies Foundation webinar by Beth Hopkins Denenberg, a pediatric genetic counselor, is available for free on YouTube.
· "Noonan Syndrome: From Hither To Yon"
This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, is available for free on YouTube.
· Noonan Syndrome Clinical Management
Guidelines
This guide was produced with funding from "DYSCERNE: A Network
of Centres of Expertise for Dysmorphology" in the United
Kingdom. Version 1 was created in February 2010 and was last reviewed in
February 2011; a review was scheduled for 2015. The project did not
receive ongoing funding so the Dyscerne web site no longer
exists, but permission has been received to share the guidelines
here.
· GEMSS - Genetic Education Materials for School Success
“The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life.” This link is to their section on Noonan syndrome, which may be especially useful to teachers who have students with Ns.
· Resources from The MIND Group:
o Talking With Your Child About Noonan Syndrome: A Guide for Caregivers
This free resource was published in 2018; it was written by Rene Pierpont & Saakshi Daswani. Permission has been received to share a PDF here.
o Attention and Executive Function Concerns in Children with Noonan Syndrome: A Guide for Teachers
This free resource was published in 2020; it was written by Meghan Clifford & Rene Pierpont. Permission has been received to share a PDF here.
o Anna's Big Week: A Story About Living with Noonan Syndrome
This 2018 picture book for children, by Rene Pierpont and Saakshi Daswani, is a story about a 9-year-old girl with Noonan syndrome.
· Clinical features, diagnosis and management guidelines
for those affected by Noonan syndrome:
A Parents Guide To Noonan syndrome
This 2012 paper, by some of the leading experts in Ns, "was supported by
an Independent Medical Education Grant from Novo Nordisk, Inc, through The
Noonan Syndrome Support Group." TNSSG has dissolved, but
permission has been received to share the guide here.
· European Network on Noonan Syndrome and Related Disorders – NSEuronet Database: “a database that contains all published germline mutations in the known RASopathy genes (excluding NF1), unpublished mutations observed by the consortium partners and collaborators, as well as polymorphisms and unclassified variants”
· RASOPATHY DIAGNOSIS ADVANCES, Quick, accurate diagnoses are now commonplace
This 2012 article from American Journal of Medical Genetics is available for free online through Wiley Online Library.
· Genetic Testing Registry from National Center for Biotechnology Information (NCBI)
As of June 2023, this site lists 621 tests for Noonan syndrome in 20 countries.
· Noonan Spectrum Disorders/Rasopathies NGS
panel from Asper Biogene - Estonia
This 37-gene panel includes
A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1,
KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2,
NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2,
SPRED1, and TBX1. Turnaround time is 6 to 9 weeks.
· Noonan Syndrome Panel from Blueprint Genetics - USA
This 36-gene panel includes ACTB, ACTG1, BMP2, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP, SYNGAP1
· Noonan
and RASopathies NGS Panel from Fulgent Diagnostics - USA
This 31-gene panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4,
FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NRAS,
PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SOS1, SOS2,
SPRED1. Turnaround time is 3-5 weeks.
· RASopathy/Noonan Spectrum Panel from Cincinnati
Children's Heart Institute Diagnostic Lab - USA
Click on this link and then on “Congenital Heart Disease Panels” to find the
link to a PDF with info. on a 31-gene (A2ML1, ACTB, ACTG1, BRAF, CBL, CDC42,
HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTEN,
PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBCK, TSC1,
TSC2) and on two less comprehensive prenatal ones. Turnaround time is 8-10
weeks for full mutation analysis and 1-2 weeks for known mutation analysis.
· Invitae RASopathies Comprehensive Panel - USA
This 28-gene panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, and YWHAZ. Turnaround time is 10-21 calendar days.
· Noonan Spectrum Disorders Panel from Baylor College of
Medicine's Medical Genetics Laboratories - USA
This 26-gene panel includes: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1,
MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RASA2, RAF1, RIT1, SHOC2, SOS1, SOS2,
SPRED1, SYNGAP1, TRAF7, and YWHAZ. Turnaround time is 13 days.
· Noonan spectrum disorder NGS panel from
Connective Tissue Gene Tests - USA
This 25-gene panel
includes A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1,
MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2,
SOS1, SOS2, and SPRED1.Turnaround
time is “typically 3 to 4 weeks from receipt of a sample in the laboratory. All
cases involving ongoing pregnancies will be expedited.”
· Noonan and Comprehensive RASopathies Panel from GeneDX - USA
This 25-gene panel includes ACML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 4 weeks.
· Greenwood Genetic Center Rasopathy Sequencing Panel - USA
This 23-gene panel includes A2ML1, BRAF, CABIN1, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, and SPRY1. Turnaround time is 8 to 10 weeks.
· Noonan Spectrum Disorders/RASopathies Panel from
Prevention Genetics - USA
This 24-gene panel includes
A2ML1, BRAF,
CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, PPP1CB,
PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, and
SPRED1. Turnaround
time: “3 weeks on average for standard orders or 2 weeks on average for STAT
orders.”
· Expanded RASopathy Panel from Partners
Healthcare Center/ Personalized Medicine - USA
This 23-gene panel
includes ACTB,
ACTG1, BRAF, CBL, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1,
NRAS, PPP1CB, PTPN11, RAF1, RRAS, RIT1, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 4 to 6 weeks.
· Noonan
Spectrum Panel from Children's Hospital of Philadelphia - USA
This 21-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1,
MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1,
SOS2, SPRED1. Turnaround time is 4-6 weeks.
· Noonan Syndrome and Related Disorders Multi-Gene
Panel, Blood from Mayo Clinic - USA
This 20-gene panel includes ACTB, ACTG1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1,
MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, and
SPRED1. Turnaround time is 28 to 42 days.
This RASopathy panel is one of a few offered by University of Alabama at Birmingham. It looks at 18 RASopathy related genes: BRAF, CBL, HRAS, KRAS, LZTR1, NRAS, MAP2K1, MAP2K2, NF1, PTPN11, PPP1CB, RAF1, RIT1, RASA2, SHOC2, SOS1, SOS2, and SPRED1) and includes deletion/duplication analysis for the NF1 and SPRED genes. Turnaround time: “30 working days for blood, saliva, or DNA; 40 working days for fresh/frozen tumor.”
· NoonanNext from Ambry Genetics – USA
This 18-gene panel includes BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 14-21 days.
· Noonan Syndrome Genetic Testing
from EasyDNA - Australia
This 14-gene panel includes
A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2,
SOS1, SPRED1.
· Orphanet's List of International Laboratories
Offering NS Testing
· RASopathies and cardiac manifestations
2023 review article by Hilal, Chen, Chen, and Choudhury in Frontiers in Cardiovascular Medicine
· Hypertrophic Cardiomyopathy in Noonan syndrome treated by MEK-inhibition
2020 letter by Gregor Andelfinger et al in Journal of the American College of Cardiology
· Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
2020 research review by Léa Linglart and Bruce D. Gelb in American Journal of Medical Genetics free abstract, full article for a fee
· Cardiovascular disease in Noonan syndrome
2013 article by W. Prendiville,l K. Gauvreau, Erica Tworog-Dube, L. Patkin, R.S. Kucherlapati, A.E. Roberts, and R.V. Lacro from Archives of Disease in Childhood free abstract, full article for a fee
This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, is available for free on YouTube.
· Pulmonary Hypertension in the RASopathies
2013 article by Krishna S. Vas and Jacqueline Noonan from Journal of Cardiology and Vascular Medicine
· Neuropsychiatric phenotypes in children with Noonan syndrome
2023 Developmental Medicine & Child Neurology article by Naylor, Bruno, Shrestha, Friedman, Jo, Reiss, and Green
· Social behavior in RASopathies and idiopathic autism
2022 Journal of Neurodevelopmental Disorders article by Foy, Hudock, Shanley, & Pierpont
· Personality and Psychopathology in Adults with Noonan Syndrome
2019 Journal of Clinical Psychology in Medical Settings by Roelofs et al
· 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
2018 Journal of Neurodevelopmental Disorders article by Pierpont et al.
· RASopathies are associated with a distinct personality profile
2018 American Journal of Medical Genetics Part B: Neuropsychiatric Genetics article by Bizaoui, Gage, Brar, Rauen, & Weiss
· Learning Disability in RASopthies
2017 chapter, by I Maccora et al, of Learning Disabilities - An International Perspective (edited by Carolyn S. Ryan)
· Psychopathological features in Noonan syndrome
2017 European Journal of Paediatric Neurology article by Perrino et al. free abstract, full article for a fee
2017 Developmental Medicine and Child Neurology article by Garg, Brooks, Burns, Burkitt-Wright, Kerr, Huson, Emsley, and Green
· Intellectual development in Noonan syndrome: a longitudinal study
2016 Brain and Behavior article by Roelofs, Janssen, Wingbermühle, Kessels, and Egger
2015 Journal of Pediatric Neuropsychology article by Elizabeth I. Pierpont
2014 Developmental Medicine & Child Neurology article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy E. Roberts
o A podcast discussing this article can be found at https://www.youtube.com/watch?v=lZhFdJQuZGo&feature=youtu.be
· Behavioral Profile in RASopathies
2014 American Journal of Medical Genetics article by Dr. Paolo Alfieri and others, free abstract, full article for a fee
· Autism traits in the RASopathies
2013 Journal of Medical Genetics article by B. Adviento, I.L. Corbin, F. Widjaja, G. Desachy, N. Enrique, T. Rosser, S. Risi, E.J. Marco, R. L. Hendren, C.E. Bearden, K.A. Rauen, and L.A. Weiss
· 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.
· The Language Phenotype of Children and Adolescents
with Noonan Syndrome
This 2010 article by E.I. Pierpont, S.E. Weismer, A.E. Roberts,
E. Tworog-Dube, M.E. Pierpont, N.J. Mendelsohn, and M.S. Seidenberg was
published in the Journal of Speech, Language, and Hearing Research and
is available for free online through US National Library of Medicine, National
Institutes of Health
· 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.
· RAS pathway, a potentially unifying theory of autism
March 2012 article by Alan Packer for Simons Foundation Autism Research
Initiative
2018 British Journal of Dermatology article
Feeding
· Young children with Noonan syndrome: evaluation of feeding problems
2020 European Journal of Pediatrics article by Draaisma, J.M.T., Drossaers, J., van den Engel-Hoek, L. et al.
· Managing Feeding Difficulties – Costello CFC, and Noonan syndromes
This presentation was made by Rebecca Howarth, a speech/language therapist of Central Manchester and Manchester Children’s University Hospitals, at a 2013 meeting in the UK.
2022 article from American Journal of Medical Genetics
· Feeding Problems in Patients with Noonan Syndrome: A Narrative Review
2022 article from Journal of Clinical Medicine
· Beyond Reflux: Feeding Intolerance, Aversion, and the Interplay of Systems
2013 RASopathies Foundation webinar by Dr. Robert C. Dumont, available for free on YouTube.
· Feeding
difficulties and foregut dysmotility in Noonan’s syndrome
1999 article from Archives of Disease in Childhood
· Growth charts for boys and girls with Noonan syndrome, created by Novo Nordisk (one of the pharmaceutical companies that produces growth hormone), are included in Noonan Syndrome Clinical Management Guidelines
2015 article from American Journal of Medical Genetics, free abstract, full article for a fee
This 2014 article from the Journal of Genetic Syndromes & Gene Therapy is available for free online.
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
· These are some of the pharmaceutical companies that produce and sell growth hormone:
o Norditropin (Novo Nordisk) and Norditropin (USA)
Many of these pharmaceutical companies offer financial assistance programs, some without any income restrictions. There’s a list of the programs at: https://www.magicfoundation.org/Financial-Assistance/ .
· Bleeding Issues in RASopathies
2022 RASopathies Network webinar
· RASopathies and Hemostatic Abnormalities: Key Role of Platelet Dysfunction
2021 article from 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
Oncology
· 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.
· Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review
2021 article from Molecular Syndromology
· Lymphatic Webinar from the RASopathies Network, April 25th 2021
2020 article from Pediatrics free abstract, full article for a fee
· Imaging of central lymphatic abnormalities in Noonan syndrome
2019 article from Pediatric Radiology free abstract, full article for a fee
· The lymphatic phenotype in Noonan
and Cardiofaciocutaneous syndrome
2015 article from European Journal of Human Genetics
· Motor performance in children with Noonan syndrome
2017 article from American Journal of Medical Genetics
Ophthalmology
· 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
2023 article from International Journal of Pediatric Otorhinolaryngology 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
2023 article from European Journal of Pediatrics
· Pain in individuals with RASopathies: Prevalence
and clinical characterization in a sample of 80 affected patients
2019 article from American Journal of Medical Genetics free abstract,
full article for a fee
· Chronic pain in Noonan Syndrome: A previously
unreported but common symptom
2015 article from American Journal of Medical Genetics free abstract,
full article for a fee
Other Journal Articles
This is a pre-print of a 2018 article that, as of May 2018, has not been peer-reviewed.
· Noonan syndrome in diverse populations
2017 article from American Journal of Medical Genetics
· Are RASopathies new monogenic predisposing
conditions to the development of systemic lupus erythematosus? Case report and
systematic review of the literature
2013 article from Seminars in Arthritis & Rheumatism free abstract,
full article for a fee
· The Face of Noonan Syndrome: Does Phenotype Predict
Genotype
This 2010 article is from The American Journal of Medical Genetics is
available for free online through the National Center
for Biotechonology Information, U.S. National Library of Medicine.
· The RAS/MAPK syndromes: novel roles of the RAS pathway
in human genetic disorders
This 2008 article is from Human Mutation is available for free
online through Wiley Online Library.
Please note the different types of Facebook groups (updated in September 2019):
Private: Only current members can see what members post, comment, and share in the group. Anybody on Facebook can see who the admins and moderators are, but only group members can see a list of other members. Some private groups (formerly called “secret groups”) are hidden in a search and other private groups (formerly called “closed groups” are visible in a search.
Public: Anybody can see what members post, comment, and share in the group. Anybody on Facebook can see a list of the group’s members, including admins and moderators.
Organizations (when relevant, social networking is listed below main website)
· RASopathiesNet – (partnership between RASopathies Network USA, a 501c3 Non-Profit, and the RASopathies Network UK) - main website
o RASopathies Network - public Facebook page
o RASopathiesNet - Twitter page
o rasopathiesnet – Instagram page
· Asociación Civil Sindrome de Noonan Argentina, en Colaboración con Otras RASopatías (Argentina)
o Asociación Civil Sindrome de Noonan Argentina, En colaboración con otras RASopatías - public Facebook page
o Sindrome de Noonan Asociacion Civil – private Facebook group
· Noonan Syndrome Awareness Association (Australia)
o Noonan Syndrome Awareness Association - NSAA – public Facebook page
· L’association Noonan (France)
o Noonan Association – public Facebook page
o Noonan Association - Twitter
· Noonan-Kinder e.V. Deutschland (Germany)
· Associazione Nazionale Sindrome di Noonan e RASopatie (Italy)
o Associazione Nazionale Sindrome di Noonan e RASopatie – public Facebook page
· Angeli Noonan, Associazione Italia Sindrome di Noonan-Onlus (Italy)
o Angeli Noonan Onlus - public Facebook page
· Stichting Noonan Syndroom (Netherlands)
o Asociación Síndrome de Noonan Perú (Peru)
· Asociación del Síndrome de Noonan Perú – private Facebook group
· Federacion Española Síndrome de Noonan y otras Rasopatías - public Facebook page and Noonan España (Spain)
o Síndrome de Noonan en España - Información - public Facebook page
o Noonan Andalucia – Facebook profile page
o Asociación Sindrome De Noonan Aragon – public Facebook page
o Asociacion Sindrome de Noonan Asturias
o Asociación Síndrome Noonan de Cantabria
§ Asociación Síndrome Noonan de Cantabria - public Facebook page
o Asociación Síndrome de Noonan de Cataluña – public Facebook page
o Síndrome de Noonan Comunidad Valenciana – public Facebook page
· Creciendo con Noonan (Spain)
o Asociación Creciendo con Noonan – public Facebook page
· Noonan Syndrom Schweiz (Switzerland)
· Noonan Syndrome Foundation (USA) - main website
o Noonan Syndrome Foundation - public Facebook page
o Go Team Noonan! – Twitter page
o Noonan Syndrome Foundation - private Facebook group
o The Noonan Syndrome Friends: The NSF Teen and Young Adult Group - private Facebook group for teenagers and young adults with Noonan syndrome, but there are some older adult members
o Adults Living With Noonan Syndrome - private Facebook group for adults who have Noonan syndrome
o Noonan Syndrome Angels: Support For Those Left Behind. - private Facebook group for those who have “lost loved ones to Noonan Syndrome Spectrum Disorders and other Overlapping Rasopathy Syndromes”
· Noonan Syndrome Association (United Kingdom)
· Noonan Syndrome Association UK - public Facebook page
· Svenska Noonanföreningen (Sweden)
Organizations That Focus on Issues Common to People with Noonan Syndrome
· Adult Congenital Heart Association
· Children's Cardiomyopathy Foundation
· The Hypermobility Syndromes Association
· The ILC Foundation, Improving The Life of Children for children and youth with chronic pain and illness
· The MAGIC Foundation “An organization providing support and education regarding growth disorders in children, as well as related adult disorders.”
· National Scoliosis Foundation
Social Network Groups Not Associated with Any of Above Organizations
· RASopathies Family (formerly Noonan Syndrome Family) (private Facebook Group): This very active international group, which is not associated with any official organization, is informative and supportive.
· Noonan Syndrome Awareness (private Facebook Group – was public until Oct. 2016)
· Noonan Syndrome Support - Ontario Canada (private Facebook group)
· New England (USA) Noonan Syndrome Community (private Facebook group)
· Cincinnati RASopathy Families (private Facebook group)
· Noonan Syndrome Midwest (private Facebook group for people in Midwest of USA)
· Rasopathies Families Michigan (private Facebook group)
· Noonan Syndrome TEXAS (private Facebook group)
· Noonan Syndrome Western North America (private Facebook group)
· Pacific Northwest Noonan Syndrome Community (private Facebook group)
· AussieAngels ( Australian Noonan Parents Group ) (private Facebook group)
· Noonan Syndrome Support Group - Australia (private Facebook group)
· Noonan's NZ (private Facebook group for people in New Zealand)
· Noonan Syndrome family fun!! UK meets :) (private Facebook group for people in the United Kingdom)
· Noonan Syndrome families Wolverhampton and surrounding areas (private Facebook group)
· Noonan Syndrome Ireland (public Facebook page)
· CFC/Noonan/costello syndromes (RAS-MAPK Pathway) Ireland (private Facebook group)
· Noonan Fl (private Facebook group for people in Finland)
· Noonan Syndrome Scandinavia (private Facebook group)
· SÍNDROME DE NOONAN NO BRASIL (private Facebook group)
· Síndrome de noonan Brasil (private Facebook group)
· SINDROME DE NOONAN EN ESPAÑOL [Spanish] (private Facebook group)
· Por que se conozca el Sindrome de NOONAN – private Facebook group
· Syndromes de Costello,cfc,rasopathies [French] (private Facebook group)
· Nos enfants noonan [French] (private Facebook group)
· How Can We Support Behavioral Wellness in RASopathies? A Focus Group Study, Masonic Institute of the Developing Brain, University of Minnesota– “We are seeking research participants for focus groups that will help us to learn more about how to provide support behavioral wellness in individuals with RASopathies. To participate, you must be either the parent/caregiver of an individual with a RASopathy (listed below) between the ages of 3-25 OR you must be a young adult with a RASopathy between the ages of 18-25.
o Cardiofaciocutaneous (CFC) syndrome
o Costello syndrome (CS)
o Neurofibromatosis type 1 (NF1)
o Noonan syndrome (NS)
Participants will complete a 1.5 hour focus group in which they will be asked questions about their or their child's behavioral health history, as well as their perspectives regarding treatments for any concerns. Participants will receive a $20 gift card.” added March 2023
· RASopathies Longitudinal Cohort Study – “The study team hopes to gain a better understanding of the characteristics and cancer risk in individuals with RASopathies, and will work to understand how the specific genetic variant of each individual contributes to their characteristics. With this information, we will be able to make more informed recommendations for cancer screening and improve treatment options for individuals with a RASopathy. We will collect health information from people who have or are at risk of developing a RASopathy, with the exception of neurofibromatosis type 1 (NF1) which is supported through other studies.” recruiting as of July 2021
· Vosoritide for Selected Genetic Causes of Short Stature – 3 to 10-year-olds with RASopathies may be eligible for this clinical trial
· Central nervous system cancers in patients with non-NF-1 RASopathies – still recruiting?
· Study Looking at Relationship Between Quality of Life, Behavior, and Social Cognition In RASopathy Syndromes – This study is currently recruiting English-speaking families of 8 to 18-year-old children with RASopathies. still recruiting?
· BRIDGE (Brain Imaging, Development, Genetics) Lab at Stanford University - information on research studies currently recruiting – As of June 2023, there is a study recruiting 5 to 13-year-olds with Noonan syndrome.
· Hypertrophic Cardiomyopathy Study for Individuals with Noonan Syndrome with Multiple Lentigines / LEOPARD syndrome – “We are conducting a research study at Boston Children’s Hospital (BCH) to learn more about hypertrophic cardiomyopathy (HCM) in individuals of all ages who have been diagnosed with Noonan Syndrome with Multiple Lentigines (NS-ML). NS-ML, also known as LEOPARD Syndrome. We are asking individuals to send us as many of the following medical records over the years so that we can look for patterns and trends:
o all heart echo reports and recordings
o clinic notes
o genetic testing results
We believe this effort will help us better understand how HCM affects people with NS-ML, which will help us design future research studies that may help patients with this diagnosis.
If you are interested in this research study or if you would like more information, please contact the research nurse for this study, Jane Messere, RN at 857-218-3628 or at jane.messere@cardio.chboston.org and she would be happy to provide you with more information. Thank you.” still recruiting?
· CASPER (Cognitive and Social Profiling: Exploring RASopathies) UK – “The study has now finished recruiting participants and the results are being analyzed and prepared for publication.”
· The Adventures of Tutu and Tubie
The author has two daughters, one who has Ns (NF1).
· Bean,
Bug, & Me
“The author is a thirty four year old Mum to two wonderful children
(currently three and almost one), one of whom has Noonan Syndrome.”
· Coasting
In On Fumes
This is a blog by a woman who has Ns (PTPN11) and has two young sons who also
have it.
This blog is written by the mother of Aberdeen who has Ns (KRAS).
· Keeping
Up with Tiny Titan
This blog is by Ann Yurcek, whose children include Becca (Ns-PTPN11 and
many complex medical problems).
· The Little Lamb and the Strong Lion
This is the story of Landen who has NswML (PTPN11) and has had a heart transplant.
· lifewithcartman
Carson has Ns (PTPN11). His mother writes this blog.
· Mom of a Noonan Warrior
Finley has Ns (SHOC2). His mother writes this blog.
· Noonan
Mom
The author of this blog has three sons with Ns (SOS1).
· Noonan Syndrome: Navigating the Challenges and Celebrating the Victories
This podcast is from a mother and grandmother of a child with Ns-PTPN11.
· North
West Jess
Jess has a daughter with Ns (clinical diagnosis). Noonan Syndrome: Our Story is her 2018 post about Ns and how it
has affected their family.
· Nosenfantsnoonan (in French, but Google Translate is available on the top of the screen)
The author of this blog has a daughter with Ns (SHOC2).
· PreachersWifeSpeaks
The woman who writes this blog has a son with Ns (PTPN11).
· Saving
Brigitte
This one is by the mother of Brigitte, who has Ns (SOS1).
· Scott Shoemake's Vlog on YouTube
Vlog #2 is about Scott’s son Holden, who has Ns (KRAS).
· Simple
Tangles | untangling this thing we call life…
This blog is written by a mother of three children, one with Ns (PTPN11) and
two with Asperger's syndrome.
· The Sol Train
The mom who writes this blog has four children, including one who has Ns
(RAF1).
· Struggling
To Thrive
The blog is written by the mother of a child with Ns (SHOC2).
This blog is written by an adult with Ns.
· Welcome
to the Mayr Madness!
Grace, who has Ns (PTPN11), is one of several children of the mother/blogger
who writes this one.
Misc.
Families can register for a free account to track growth on this site. Their Noonan syndrome growth chat is based on https://pubmed.ncbi.nlm.nih.gov/22887833/ from 2012.
· Elisabeth
Faith Parker: Motherhood, Advocacy, Movement, Community
Elisabeth is the mother of Ezra, who was found to have Ns-PTPN11 after he was
diagnosed with JMML. Her web page includes his story and resources for other
parents of children with Noonan syndrome. It is also the home of Move2Advocate,
her project to help “Rare Disease Mamas, Caregivers, Advocates, and Friends
with inspiration, accountability, and empowerment for self-care through
movement.”
· Positive
Exposure
Positive Exposure is a 501(c)3 charitable organization that was founded by
fashion photographer Rick Guidotti. It “utilizes photography, film and
narrative to transform public perceptions of people living with genetic,
physical, intellectual and behavioral differences.” The gallery section of its
web site includes some of Rick’s photos of people with Noonan syndrome.
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