*  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
*  Medical Issues | Donor Sibling Registry
Long QT syndrome (can lead to sudden arrhythmia death syndrome or SADS) ... 2015: "I am an ovum donor and I have Ehlers-Danlos Syndrome types 2 and 3, and my two children do as well. This was only ... On a gene that is known to cause autism and Rhett syndrome. Both of my boys are autistic. One of their donor half siblings who ... 12/14: Code Unknown: Trying to connect with sperm donor through online community: a donor family deals with long QT syndrome ( ...
  https://donorsiblingregistry.com/library/medical-issues
*  Plus it
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007; 39: 75-9. ... and TSC result in hamartomatous cancer predisposition syndromes (Cowden's, Peutz-Jeghers, and tuberous sclerosis, respectively ...
  http://cancerres.aacrjournals.org/content/68/15/6084
*  Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus
Genetics Home Reference: Noonan syndrome (National Library of Medicine) * Genetics Home Reference: oral-facial-digital syndrome ... Flat Head Syndrome (Positional Plagiocephaly) (Nemours Foundation) Also in Spanish * Guide to Understanding Apert Syndrome ( ... Noonan Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research) ... Genetics Home Reference: 3MC syndrome (National Library of Medicine) * Genetics Home Reference: Aarskog-Scott syndrome ( ...
  https://medlineplus.gov/craniofacialabnormalities.html
*  Anti-CBL antibody [YE323] (ab32027) | Abcam
Defects in CBL are the cause of Noonan syndrome-like disorder (NSL) [MIM:613563]. NSL is a syndrome characterized by a ... phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, ...
  http://www.abcam.com/cbl-antibody-ye323-ab32027.html
*  A case of recurrent multifocal central giant cell granulomas.
Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet. 1991;40:159-66. doi:10.1002/ajmg.1320400208. [pmid: 1897569]. ... Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet. 1991;40:159-66. doi:10.1002/ajmg.1320400208. [pmid: 1897569]. ... Multiple central giant cell lesions have been reported in association with Noonan-like/multiple giant cell lesion syndrome, and ... The patient's clinical appearance was phenotypically normal, not that of Noonan's syndrome. Although we are uncertain what ...
  http://www.biomedsearch.com/nih/Case-Recurrent-Multifocal-Central-Giant/19644538.html
*  Male Factor Infertility | Department of Urology
Noonan syndrome. An inherited condition that can occur in either males or females. In males, this syndrome can cause abnormal ... Sex reversal syndrome. A male who has the sex chromosomes of a genetic female (XX, instead of XY), resulting in azoospermia and ... Immotile cilia syndrome. In this condition, the sperm count is normal, but the spermatozoa are nonmotile, such as in ... Endocrine or hormonal disorders, such as Kallmann syndrome (an absence of or decrease in the function of the male testes) or a ...
  http://columbiaurology.org/staywell/document.php?id=34439
*  UniProtKB/SwissProt variant VAR 069784
Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic ... Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly ...
  https://web.expasy.org/variant_pages/VAR_069784.html
*  BRAF (gene) - Wikipedia
Allanson, Judith E; Roberts, Amy E (2011-08-04). Noonan Syndrome. NBK1124. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993 ... Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G (November 2006). "The cardiofaciocutaneous ... In GeneReviews Gelb, Bruce D; Tartaglia, Marco (2010-11-16). LEOPARD Syndrome. NBK1383. In GeneReviews "BRAF gene". NCI ... Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental ...
  https://en.wikipedia.org/wiki/BRAF_(gene)
*  Rhabdomyosarcoma (RMS)
Costello syndrome and Noonan syndrome, both of which can cause deformities, developmental delays, and other problems ... Li-Fraumeni syndrome, a rare genetic disorder that makes a person likely to develop cancer at some point in his or her life ... Beckwith-Wiedemann syndrome, a congenital (present at birth) disorder that can cause too much growth in the body, including the ...
  http://kidshealth.org/ChildrensHealthNetwork/en/parents/rms.html
*  Turner Syndrome: Practice Essentials, Background, Pathophysiology
More than 95% of adult women with Turner syndrome exhibit short stature and infertility. ... Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. ... Turner syndrome only occurs in females. [11] Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur ... Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Dis Child. 1987 Feb. 141(2):218-20. [Medline]. ...
  https://emedicine.medscape.com/article/949681-overview
*  Plus it
2014) Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. Nat Neurosci 17:1736-1743, ... 2005) Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome. J Neurosci 25:7385-7392 ...
  http://www.jneurosci.org/content/36/33/8641
*  TTC after infant loss - Grief & Loss | Forums | What to Expect
Our precious angel passed away in Jan after struggling with Noonan Syndrome for 11 weeks. All our genetic test came back fine ... I also lost my 5 day old baby who was diagnosed with noonan syndrome. This was on August 7th. My sweet Edie had a pleural ... Our precious angel passed away in Jan after struggling with Noonan Syndrome for 11 weeks. All our genetic test came back fine ... We lost our daughter Amiah to Marfans syndrome. I had a healthy pregnancy and the standard testing was all normal. We didn't ...
  https://www.whattoexpect.com/forums/grief-loss/topic/ttc-after-infant-loss-14.html
*  Interview with a protein | The Scientist Magazine®
Kuchment: Have you heard the news about Noonan syndrome being linked to mutations in Sos1? Histone: Yes. Very disturbing. I am ... A serious human genetic disorder called Noonan syndrome has recently been linked to mutations in Sos1. My lab mates and I here ...
  https://www.the-scientist.com/?articles.view/articleNo/26299/title/Interview-with-a-protein/flagPost/42671/
*  Targeting Protein Tyrosine Phosphatase SHP2 for the Treatment of PTPN11-Associated Malignancies | Molecular Cancer Therapeutics
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med 2004;10:849-57. ... of patients with Noonan syndrome, as well as in 35% of juvenile myelomonocytic leukemia (JMML), 10% of myelodysplastic syndrome ... Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-8. ... Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous ...
  http://mct.aacrjournals.org/content/12/9/1738.long
*  Development of EIA systems for active-form MAP kinase.
19017799 - Role of erk1/2 signaling in congenital valve malformations in noonan syndrome.. 23272189 - Melatonin protects ...
  http://www.biomedsearch.com/nih/Development-EIA-systems-active-form/10758239.html
*  Incision-to-delivery interval and neonatal wellbeing during cesarean section.
15971489 - Successful pregnancy in a noonan syndrome patient after 3 unsuccessful pregnancies from.... 8731289 - Large ...
  http://www.biomedsearch.com/nih/Incision-to-delivery-interval-neonatal/18277349.html
*  Tyrosine-protein phosphatase non-receptor elisa and antibody
Disease: Juvenile Myelomonocytic Leukemia; Leopard Syndrome 1; Metachondromatosis; Noonan Syndrome 1. PTPN11 ELISA Kit. PTPN11 ...
  https://www.mybiosource.com/protein_family.php?root=tyrosine-protein-phosphatase-non-receptor
*  Research: Scientific Publications | cnio.es
... induced Noonan syndrome predisposes to tumour development in mice. J Pathol 239, 206-217. ...
  https://www.cnio.es/ing/publicaciones/publicaciones.asp?pagina=30
*  Travel & Poster Awards
ABNORMALITIES IN NOONAN SYNDROME AND NOONAN/JMML HUMAN IPS-DERIVED HEMATOPOIETIC CELLS. Dongsu Park, Massachusetts General ...
  http://www.isscr.org/meetings-events/annual-meetings/past-meetings/isscr-2012-yokohama/travel-poster-awards
*  Growth Disorders | Pituitary Gland | MedlinePlus
Genetics Home Reference: Noonan syndrome (National Library of Medicine) * Genetics Home Reference: Russell-Silver syndrome ( ... Genetics Home Reference: Sotos syndrome (National Library of Medicine) * Genetics Home Reference: Warsaw breakage syndrome ( ... Genetics Home Reference: Cockayne syndrome (National Library of Medicine) * Genetics Home Reference: DNMT3A overgrowth syndrome ... Genetics Home Reference: Weaver syndrome (National Library of Medicine) * Genetics Home Reference: X-linked acrogigantism ( ...
  https://medlineplus.gov/growthdisorders.html
*  Jason Gotlib | Stanford Medicine Profiles
Mutations in PTPN11 cause Noonan syndrome (NS), a developmental disorder characterized by cardiac and skeletal defects. NS is ... Chronic eosinophilic leukemia/hypereosinophilic syndrome. Cancer treatment and research Gotlib, J. 2008; 142: 69-106 Abstract. ... and various forms of the hypereosinophilic syndrome. For patients in whom no underlying disease or hypereosinophilic syndrome ... myelodysplastic syndromes, chronic myelomonocytic leukemia, and systemic mastocytosis. Hypereosinophilic syndrome, a ...
  https://med.stanford.edu/profiles/jason-gotlib