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*  Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway - Bruce Korf
The Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach will be held ... These syndromes, including Noonan, Noonan with multiple lentigines, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, ... This meeting will be held in conjunction with family forums of the CSFN, CFC International, Noonan Syndrome Support Group, and ... Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway Korf, Bruce R. University of Alabama Birmingham, ...
  http://grantome.com/grant/NIH/R13-CA177217-01
*  SHP2抗体|Abcam中国|Anti-SHP2抗体(ab10555)
Defects in PTPN11 are the cause of Noonan syndrome type 1 (NS1) [MIM:163950]. Noonan syndrome (NS) is a disorder characterized ... Some patients with Noonan syndrome type 1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which ... It is an autosomal dominant disorder allelic with Noonan syndrome. The acronym LEOPARD stands for lentigines, ... JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome ...
  http://www.abcam.cn/shp2-antibody-ab10555.html
*  Pepsi sign | Radiology Case | Radiopaedia.org
Noonan syndrome. Pulmonary artery stenosis treated with balloon dilatation.. Patient Data. Age: 9 ...
  https://radiopaedia.org/cases/pepsi-sign
*  Autism traits in the RASopathies | Journal of Medical Genetics
Noonan syndrome (NS) (n=48), Costello syndrome (CS) (n=43), and cardio-facio-cutaneous syndrome (CFC) (n=54). One-tailed ... Costello syndrome (CS), (C) Noonan syndrome (NS), and (D) cardio-facio-cutaneous syndrome (CFC). Distributions are given as the ... Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential ... other RASopathies include Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC), and together ...
  https://jmg.bmj.com/content/51/1/10
*  Genetics | Archives of Disease in Childhood
Cardiovascular disease in Noonan syndrome Terence W Prendiville, Kimberlee Gauvreau, Erica Tworog-Dube, Lynne Patkin, Raju S ... Persistent neck pain in a girl: Klippel-Feil syndrome Paola Sabrina Buonuomo, Marina Macchiaiolo, Giovanna Stefania Colafati, ... Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome Alexandre Fabre, Anne Breton, Marie-Edith Coste, ... Turner syndrome and autoimmune diseases: record-linkage study Michael J Goldacre, Olena O Seminog ...
  http://adc.bmj.com/keyword/genetics?page=3
*  Progress in Pediatric Cardiology
Cardiomyopathies in Noonan syndrome and the other RASopathies Bruce D. Gelb , Amy E. Roberts , ... ... Cardiomyopathies in Noonan syndrome and the other RASopathies Bruce D. Gelb , Amy E. Roberts , ... ...
  https://www.journals.elsevier.com/progress-in-pediatric-cardiology
*  SOS1 Gene - GeneCards | SOS1 Protein | SOS1 Antibody
Pathogenic, Noonan syndrome 4 (NS4) [MIM:610733], Noonan syndrome 4 (NS4) [MIM:610733]. 39,051,202(-). AGAAA(C/G/T)GACAG. ... Noonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic ... cardiofaciocutaneous syndrome and Noonan syndrome. (PMID: 20186801) Pierpont EI … Seidenberg MS (American journal of medical ... Pathogenic, Noonan syndrome 4 (NS4) [MIM:610733]. 39,022,774(-). TGGAA(A/G/T)GGATG. reference, missense. ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOS1
*  Chromosomal Abnormalities | Grand Strand Health
Noonan Syndrome. Noonan syndrome can be inherited or can develop unpredictably in children whose parents have normal genes. ... Down Syndrome. Down syndrome , now known as trisomy 21, is the most common and best known chromosomal abnormality. It is a ... Klinefelter Syndrome. Klinefelter syndrome is a disorder in which male infants are born with an extra X chromosome (XXY). While ... Fragile X Syndrome. Fragile X syndrome is the next most commonly diagnosed genetic cause of intellectual disability after Down ...
  https://grandstrandmed.com/hl/?/101103/Risk-Factors-for-Chromosomal-Abnormalities~Main-Page&com.dotmarketing.htmlpage.language=1
*  JCI Insight - Welcome
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed " ...
  https://insight.jci.org/tags/22?content=articles&page=3
*  Table of contents | Archives of Disease in Childhood
A clinical study of Noonan syndrome. (1 February, 1992) Free M Sharland, M Burch, W M McKenna, M A Paton ...
  https://adc.bmj.com/content/67/2
*  Hellp syndrome preeclampsia - Answers on HealthTap
Hellp Syndrome): Dr. Thompson on hellp syndrome preeclampsia: Her is web site could give details on that subject.Good luck. ... What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that ... One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 ... Sometimes: Marfan syndrome is preventable when the adults who know they have marfan syndrome thoughtfully choose not to have ...
  https://www.healthtap.com/topics/hellp-syndrome-preeclampsia
*  Genetics | Archives of Disease in Childhood
Cardiovascular disease in Noonan syndrome Terence W Prendiville, Kimberlee Gauvreau, Erica Tworog-Dube, Lynne Patkin, Raju S ... Kabuki syndrome: clinical and molecular diagnosis in the first year of life Maria Lisa Dentici, Alessandra Di Pede, Francesca ... PTEN hamartoma tumour syndrome: early tumour development in children Patroula Smpokou, Victor L Fox, Wen-Hann Tan ... Long QT molecular autopsy in sudden infant death syndrome Joanna Moira Glengarry, Jackie Crawford, Paul Lowell Morrow, Simon ...
  http://adc.bmj.com/keyword/genetics?page=2
*  Cystic hygroma - Wikipedia
Additionally, it can be associated with Turner syndrome or with Noonan syndrome. A lethal version of this condition is known as ... Cystic hygromas are also often seen in Turner's syndrome, although a patient who does not have Turner's syndrome can present ... March 2008). "Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals". Fetal. Diagn. Ther ... syndrome%22&source=bl&ots=bEeJU7SsDU&sig=EzUmEHwBeRmM-atleoQxSc0fxuw&hl=en&ei=TR4zSr2iApPusQOOqdHYDg&sa=X&oi=book_result&ct= ...
  https://en.wikipedia.org/wiki/Cystic_hygroma
*  Page 245 - 30917 ASHG Complete
... syndrome.,Lee,,B.,H.,M.,Kim,,Choi,,Yoo.,1108T,Congenital,diarrheal,disorders:,Translating,whole,exome,sequencing,to,the,clinic ... syndrome,(focal,dermal,hypoplasia).,Shave,,X.,Balasa,,Wen,,Nguyen,,I.,Van,den,Veyver.,1114T,Increased,oxidative,stress,Nijmegen ... Noonan syndrome. J. J. Lee, B. H. Lee, J. M. Kim, G. H. ... breakage syndrome results from PARP hyperactivation after DNA ...
  http://www.ashg.org/2011meeting/program_guide/files/assets/seo/page246.html
*  SHOC2 - Leucine-rich repeat protein SHOC-2 - Homo sapiens (Human) - SHOC2 gene & protein
Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1)3 Publications. ,p>Manually curated information for which there ... Disease descriptionA syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, ... "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.". Cordeddu ... "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.". Cordeddu ...
  http://www.uniprot.org/uniprot/Q9UQ13
*  TLR4-Mediated AKT Activation Is MyD88/TRIF Dependent and Critical for Induction of Oxidative Phosphorylation and Mitochondrial...
A suggested role for mitochondria in Noonan syndrome. Biochim. Biophys. Acta 1802: 275-283. ... Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta). Science 292: 1728- ...
  http://www.jimmunol.org/content/188/6/2847
*  An Investigation of Cervical Spinal Posture in Cervicogenic Headache.
10797437 - Metacarpophalangeal pattern profile analysis in noonan syndrome.. 23281647 - Mathematical modeling of left ...
  http://www.biomedsearch.com/nih/Investigation-Cervical-Spinal-Posture-in/25301967.html
*  Anti-KRAS antibody (ab125430) | Abcam
Defects in KRAS are the cause of Noonan syndrome type 3 (NS3) [MIM:609942]. Noonan syndrome (NS) [MIM:163950] is a disorder ... CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive ... Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic ... JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome ...
  http://www.abcam.com/kras-antibody-ab125430.html
*  MEDLINE - Results of the search |page 1|
Noonan Syndrome/diagnosis. Noonan Syndrome/pathology. Noonan Syndrome/surgery. Protein Tyrosine Phosphatase, Non-Receptor Type ... BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental ... Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan ... Noonan Syndrome/genetics. Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics. [Mh] MeSH terms secundary:. Adolescent. ...
  http://bases.bireme.br/cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&base=MEDLINE&lang=i&nextAction=lnk&isisFrom=1&count=10&exprSearch=noonan%20and%20syndrome
*  Evo-Devo of Child Growth: Treatise on Child Growth and Human Evolution | Human Evolution | Evolution | Life Sciences | Subjects...
a. Down syndrome. b. Noonan's syndrome. c. Silver-Russell syndrome. d. Additional cases ... Explains the role of life history theory in understanding and diagnosing growth disorders such as Down syndrome, Noonan ...
  https://www.wiley.com/en-us/Evo+Devo+of+Child+Growth%3A+Treatise+on+Child+Growth+and+Human+Evolution-p-9781118156148
*  Molecular basis of juvenile myelomonocytic leukemia | Haematologica
Children with Noonan syndrome are at increased risk for developing JMML. However, in Noonan syndrome, JMML seems to behave ... of the Noonan syndrome cases. These mutations differ from the somatic mutations found in JMML.17 Noonan syndrome is ... 2006) Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle 5(15): ... Analysis of genetic syndromes related to germline aberrations of the RAS pathway, like neurofibromatosis type I and Noonan ...
  http://www.haematologica.org/content/95/2/179
*  MHAUS Recommendations - MHAUS
Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility? Recommendations and supporting evidence.. Adverse Effects ...
  https://www.mhaus.org/healthcare-professionals/mhaus-recommendations/
*  ras Proteins Summary Report | CureHunter
Noonan Syndrome (Female Pseudo-Turner Syndrome) 11/01/2007 - "We performed detailed biochemical and functional studies of three ... found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. ". ...
  http://www.curehunter.com/public/keywordSummaryD018631-ras-Proteins.do
*  Ben Stanton | Iowa Public Radio
Noonan: The Most Common Medical Syndrome You've Never Heard Of. By Charity Nebbe & Ben Stanton • Aug 18, 2015 ... A person with Noonan syndrome is often short, has a broad or webbed neck, low set nipples, and bleeding problems. Developmental ... Noonan syndrome is a genetic condition. The characteristic facial features include low set ears, widely spaced-eyes, bright ...
  http://iowapublicradio.org/people/ben-stanton?page=2
*  Hematolymphoid System | SpringerLink
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29(4):465-8. https ... Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007;39(8):1007 ... Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. Arch Pathol Lab Med. 2010; ... Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014;111(31): ...
  https://link.springer.com/chapter/10.1007%2F978-3-319-89626-7_6