*  Factor XI - Wikipedia
Low levels of factor XI also occur in many other disease states, including Noonan syndrome. High levels of factor XI have been ...
  https://en.wikipedia.org/wiki/Factor_XI
*  Cubitus valgus - Wikipedia
When present at birth, it can be an indication of Turner syndrome or Noonan syndrome. It can also be acquired through fracture ...
  https://en.wikipedia.org/wiki/Cubitus_valgus
*  A2ML1 - Wikipedia
Mutations in A2ML1 are associated to Noonan-like syndrome . GRCh38: Ensembl release 89: ENSG00000166535 - Ensembl, May 2017 " ... "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. ...
  https://en.wikipedia.org/wiki/A2ML1
*  Diary from a Week in Practice: Diary from a Week in Practice - American Family Physician
About 25 percent of persons with Noonan's syndrome have moderate mental retardation. Usually the syndrome occurs randomly, but ... "Tell me about Noonan's syndrome," said JR, a third-year resident who was seeing patients in the family practice center. KS, the ... Noonan's syndrome, JR and KS learned, is caused by a defective gene on chromosome 12. The most common features are short ... JR pulled out the literature describing Noonan's syndrome that the mother of the 10-year-old boy he had just examined brought ...
  https://www.aafp.org/afp/2001/1015/p1351.html
*  karyotype - ?? ??? ????, ?? ??, ???? ?? OK
Q96 ?? ???? (Turner's syndrome) - ?? : ???? (Noonan's syndrome)(Q87.1) Q96.0 ???? 45, X(Karyotype 45, X) Q96.1 ???? 46, X ... Q96.8 ?? ???? ?? ?Ÿ ??(Other variants of Turner's syndrome) Q96.9 󼼺Ҹ??? ?? ???? (Turner's syndrome, unspecified) Q97 ޸ з ... ܣ ?? ???? (Turner's syndrome)(Q96.-) Q97.0 ???? 47, XXX(Karyotype 47, XXX) Q97.1 ?? X ?ü? ?? (Female with more than three X ... Q98.1 Ŭ ??????? ???? , ΰ ?? X ?ü? ?? (Klinefelter's syndrome, male with more than two X chromosomes) Q98.2 Ŭ ...
  http://dic.impact.pe.kr/ecmaster-cgi/search.cgi?kwd=karyotype
*  Lynne Bird, M.D.
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.. Ross MK, Ellis LS, Bird LM, Hagood ... Angelman syndrome: review of clinical and molecular aspects.. Bird LM. If not Angelman, what is it? A review of Angelman-like ... Angelman Syndrome.. Margolis SS, Sell GL, Zbinden MA, Bird LM. Truncating mutations in the last exon of NOTCH3 cause lateral ... Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.. Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong ...
  https://www.rchsd.org/doctors/lynne-bird-md/
*  Genetic Disorders
The Noonan Syndrome Support Group. Information about this organization as well the disease itself. Offers news, events, a ... The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. ... The Rett Syndrome Association UK, a registered charity, is dedicated to the support of girls and women, together with their ... A support site for individuals and professionals dealing with Sturge-Weber syndrome, port-wine stains and Klippel Trenaunay. ...
  http://www.bighealthdirectory.com/diseases-and-conditions/genetic-disorders/
*  GeneDx
Allanson J and Roberts A. (Updated 2016 Feb 25). Noonan Syndrome. In: GeneReviews at GeneTests Medical Genetics Information ... Allanson J and Roberts A. (Updated 2016 Feb 25). Noonan Syndrome. In: GeneReviews at GeneTests Medical Genetics Information ... Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [ ... Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [ ...
  https://www.genedx.com/test-catalog/disorders/catecholaminergic-polymorphic-ventricular-tachycardia-cpvt/32081/
*  Upcoming PhD Oral Examinations | Medical Biophysics, University of Toronto
Thesis Title: The Molecular Pathogenesis of Noonan Syndrome-Associated RAF1 Mutations. Date & Time: Monday, January 21, 2013 at ... Thesis Title: Genomic DNA Copy Number Variations and Cancer: Studies of Li-Fraumeni Syndrome and its Variants. Date & Time: ...
  http://medbio.utoronto.ca/node/1843
*  PPT - Lecture of Cell Signaling-I PowerPoint Presentation - ID:3356649
SHP2 Noonan Syndrome Developmental disorder affecting 1:2500 newborn Stomach Ulcers Target of Helicobacter pylori ...
  https://www.slideserve.com/kory/lecture-of-cell-signaling-i
*  Neuro-cardio-facial-cutaneous syndromes - Wikipedia
Leopard syndrome (LS) and Noonan syndrome (NS). Other members are Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC ... Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of ... These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the ... The two most common syndromes under this "umbrella" are: ... it has been observed that NCFC syndromes result from de novo ...
  https://en.wikipedia.org/wiki/Neuro-cardio-facial-cutaneous_syndromes
*  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
*  Publications > Kavli Institute for Neuroscience | Neuroscience | Yale School of...
Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. Cell Rep. 2018 Aug 7. PMID: ... Reilly SK, Noonan JP: Evolution of Gene Regulation in Humans. Annu Rev Genomics Hum Genet. 2016 Aug 31; 2016 Apr 21. PMID: ... Sholtis SJ, Noonan JP: Gene regulation and the origins of human biological uniqueness. Trends Genet. 2010 Mar; 2010 Jan 26. ... Garcia-Santamarina S, Festa RA, Smith AD, Yu CH, Probst C, Ding C, Homer CM, Yin J, Noonan JP, Madhani H, Perfect JR, Thiele DJ ...
  https://medicine.yale.edu/neuroscience/kavli/research/publications.aspx
*  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
*  Day-care sex-abuse hysteria - Wikipedia
Dale Akiki, a developmentally-delayed man with Noonan syndrome, was accused of satanic ritual abuse in 1991. Akiki and his wife ... called the child sexual abuse accommodation syndrome, to establish guilt." The original judge was also criticized "for the way ... conspiracy theory Repressed memory Salem witch trials Satanic ritual abuse Witch hunt Child sexual abuse accommodation syndrome ...
  https://en.wikipedia.org/wiki/Day-care_sex-abuse_hysteria
*  Pulmonary valve stenosis - Wikipedia
PVS was the key finding that led Jacqueline Noonan to identify the syndrome now called Noonan syndrome. Play media Among some ... Noonan's syndrome, and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur ...
  https://en.wikipedia.org/wiki/Pulmonary_valve_stenosis
*  Chylothorax - Wikipedia
Less common is left-heart failure, infections, and developmental abnormalities such as Down syndrome and Noonan syndrome. Since ...
  https://en.wikipedia.org/wiki/Chylothorax