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Case reports- anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome, 12/2005
We describe a patient with Noonan syndrome who presented with Human Leukocyte Antigen B27-associated recurrent acute anterior uveitis and manifestations of... 
Noonan syndrome, uveitis, extraocular muscles, eye
Journal
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1223 - 1232
Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development.... 
RRAS2 | RASopathies | MAPK | RAS | Noonan syndrome
Journal Article
by Wu, Xue
06/2013
Noonan syndrome (NS) is one of several autosomal dominant “RASopathies” caused by mutations in components of the RAS-RAF-MEK-ERK MAPK pathway. Germ line... 
mouse model | signal transduction | Noonan syndrome | 0307 | RAS/ERK pathway
Dissertation
Clinical Neurophysiology, ISSN 1388-2457, 2013, Volume 124, Issue 10, pp. e143 - e144
Question Noonan syndrome (NS; OMIM 163950 ) is a developmental disorder caused by activating mutations in various components of the RAS-MAPK pathway. Recent in... 
Neurology | Noonan syndrome
Journal Article
Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma, 12/2000
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself.... 
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
Journal
Medical Hypotheses, ISSN 0306-9877, 02/2019, Volume 123, pp. 1 - 1
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2019, Volume 15, Issue 4
RASopathies are a family of related syndromes caused by mutations in regulators of the RAS/Extracellular Regulated Kinase 1/2 (ERK1/2) signaling cascade that... 
Genetic aspects | Gene mutations | Noonan syndrome | Analysis | Ethylenediaminetetraacetic acid | Brain
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
Mutations in LZTR1, already known to be causal in familial schwannomatosis type 2, have been recently involved in a small proportion of patients with autosomal... 
Glioma | LZTR1 | Growth hormone therapy | Noonan syndrome
Journal Article
Interactive CardioVascular and Thoracic Surgery, ISSN 1569-9293, 09/2017, Volume 25, Issue 3, pp. 498 - 498
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 640 - 657
The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with... 
eye | WD40 | development | neurodevelopment | hedgehog | FBXW11 | Noonan syndrome | brain | Wnt | digit
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1233 - 1240
Noonan syndrome (NS) is characterized by distinctive craniofacial appearance, short stature, and congenital heart disease. Approximately 80% of individuals... 
exome sequencing | macrocephaly | Noonan syndrome | RRAS2 | RASopathies | zebrafish | RAS/MAPK | functional profiling
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 10, pp. 2137 - 2146
Purpose To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Design Prospective cross-sectional clinical and genetic... 
Ophthalmology | Ocular manifestations of general diseases | Noonan syndrome
Journal Article
Chest, ISSN 0012-3692, 04/2019, Volume 155, Issue 4, pp. 54A - 54A
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 279 - 284
Journal Article
Stem Cell Research, ISSN 1873-5061, 01/2019, Volume 34
Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are... 
Tyrosine | Gene mutations | Noonan syndrome | Stem cells | Genetic aspects | Research
Journal Article
Anestezi Dergisi, ISSN 1300-0578, 2017, Volume 25, Issue 2, pp. 105 - 108
Journal Article
Journal of Medical Biography, ISSN 0967-7720, 2018, p. 96777201878337
Journal Article
Çukurova Üniversitesi Tıp Fakültesi Dergisi, ISSN 0250-5150, 03/2015, Volume 40, Issue 1, pp. 47 - 50
Noonan syndrome is characterized by fascial and physical features along with congenital heart disease. In these patients, fascial features include short webbed... 
Noonan Syndrome | general anesthesia
Journal Article
Annals of pediatric endocrinology & metabolism, ISSN 2287-1012, 12/2018, Volume 23, Issue 4, pp. 176 - 181
Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%).... 
Growth hormone | Noonan syndrome | Review
Journal Article
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