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*  Cholesterol-Lowing Drug Reverses Memory Deficit in Mice - Technology & science - Science - LiveScience | NBC News
... learning disabilities caused by Noonan syndrome or related disorders. "Noonan syndrome interferes with the changes in brain ... Approximately 1 in 2,000 babies are born with Noonan syndrome. Because lovastatin already is an FDA-approved drug for heart ... The research team had previously discovered that Noonan syndrome involves a hyperexpression of a protein called Ras, which ... "Intellectual disabilities only affect 30 to 50 percent of [Noonan syndrome] patients," Silva said. "In some patients, the ...
  http://www.nbcnews.com/id/56406033/ns/technology_and_science-science/
*  Diagnoselisten - Rarelink.no
Noonan syndrome (Engelsk) * Noonans syndrom (Norsk) * Norrie disease (Engelsk) * Norrie disease (Norsk) ...
  http://rarelink.no/diagnoselist.jsp?capitalLetter=N&
*  Braz J Infect Dis - vol.13 issue6
Candida albicans meningitis in an infant with noonan syndrome. Ahmadi, Faezeh; Ahmadi, Maedeh; Yaghmaei, Bahareh; Nejat, ...
  http://www.scielo.br/scielo.php?script=sci_issuetoc&pid=1413-867020090006&lng=en&nrm=iso
*  Anti-alpha Tubulin antibody - Loading Control (ab4074) References
Yi JS et al. Low-dose dasatinib rescues cardiac function in Noonan syndrome. JCI Insight 1:e90220 (2016). PubMed: 27942593 ... Osakabe N et al. The flavan-3-ol fraction of cocoa powder suppressed changes associated with early-stage metabolic syndrome in ...
  http://www.abcam.com/alpha-tubulin-antibody-loading-control-ab4074-references.html
*  UniProtKB/SwissProt variant VAR 065144
Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic ... Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized ... Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. Bertola D.R.; Pereira A.C.; ...
  https://web.expasy.org/variant_pages/VAR_065144.html
*  3eqc - Proteopedia, life in 3D
Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic ... CFC syndrome) [MIM:115150]; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive ... The inheritance of CFC syndrome is autosomal dominant. Function [MP2K1_HUMAN] Dual specificity protein kinase which acts as an ... MP2K1_HUMAN] Defects in MAP2K1 are a cause of cardiofaciocutaneous syndrome ( ...
  http://proteopedia.org/wiki/index.php/3eqc
*  Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
Missense mutations in PTPN11 have previously been identified in patients with Noonan, Noonan-like, and LEOPARD syndromes, as ... Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol. 2010;1:2-26. [PMC free article] [PubMed] ... Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. ... Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010;49:242-252. [PubMed] ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3077396/?lang=en-ca
*  Pediatrics
MUTATIONAL ANALYSIS OF PTPN11 AND KRAS GENES IN TAIWANESE CHILDREN WITH NOONAN SYNDROME Fu-Sung Lo, Ju-Li Lin Lin, Yann-Jinn ... Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases Kenneth A. Myers, Jacinta M. ... IDENTIFICATION OF 7 NOVEL TRANSFORMING GROWTH FACTOR β RECEPTOR 2 MUTATIONS IN CHINESE PATIENTS WITH MARFAN SYNDROME Brian Hon- ... LINGUISTIC DEVELOPMENT OF CHILDREN WITH WILLIAMS SYNDROME: A CONTROL STUDY Spyridoula Varlokosta, Loretta Thomaidis, Anastasia ...
  http://pediatrics.aappublications.org/collection/genetics-0?page=2
*  JCI - Volume 126, Issue 8
which encodes the protein tyrosine phosphatase (PTP) SHP2, are implicated in CHD and cause Noonan syndrome with multiple ... Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ... Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ... with an autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory ...
  https://jci.org/126/8
*  Melanie Manning | Stanford Medicine Profiles
Perinatal Features of the RASopathies: Noonan Syndrome, Cardiofaciocutaneous Syndrome and Costello Syndrome AMERICAN JOURNAL OF ... Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. American journal ... Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy. We present two infants with Noonan ... We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS ...
  https://med.stanford.edu/profiles/melanie-manning
*  Neurodevelopmental Issues (CHD) - Mended Hearts
Children with syndromes associated with CHD *Down Syndrome. *22q 11 Deletion. *Noonan Syndrome ...
  https://mendedhearts.org/topic/neurodevelopmental-issues-chd/
*  Oncogenic RIT1 mutations in lung adenocarcinoma - Semantic Scholar
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.. *Yoko Aoki, Tetsuya Niihori, +22 ... Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. *Masako Yaoita, Tetsuya ...
  https://www.semanticscholar.org/paper/Oncogenic-RIT1-mutations-in-lung-adenocarcinoma-Berger-Imielinski/35c955ab86161186917b60790766ee8a920db80e
*  CBL Gene - GeneCards | CBL Protein | CBL Antibody
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]: A syndrome characterized by ... UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [ ... noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. *homocystinuria-megaloblastic anemia due to ... Pathogenic, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]. 119,278,170(+) ...
  http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=867
*  Publications - Mayo Clinic
Hemorrhagic pseudotumors of iliac bones in Noonan syndrome: PETCT imaging. Rev Esp Med Nucl Imagen Mol. 2017 May - Jun; 36: (3) ... Gardner's syndrome with bone scintigraphic and computed tomographic demonstration. Clin Nucl Med. 1998 Apr 23; 23(4):234-5. ... Mazabraud's syndrome with sarcomatous transformation: scintigraphic and radiologic imaging. Clin Nucl Med. 2005 Dec; 30: (12) ... PET imaging of Sertoli cell tumor in androgen insensitivity syndrome. Clin Nucl Med. 2003 Sep; 28: (9)743-5. View PubMed ...
  http://www.mayo.edu/research/searchpublications/publications?authid=10544305
*  Phospho anti-SHP2 (S576) antibody (ab17940) | Abcam
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.com/shp2-phospho-s576-antibody-ab17940.html
*  Physio And Health
Noonan syndrome :. Noonan was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients ...
  http://physioandhealth.blogspot.com
*  Neonatal Genital Defects (Male And Female Defects) - You Ask MD Answers
Noonan's Syndrome. Noonan's syndrome is the result of a genetic abnormality. It usually causes ... ... Klinefelter's Syndrome. Klinefelter's syndrome results from a genetic abnormality characterized by the presence of ... ... Turner's Syndrome. Turner's syndrome, also referred to as gonadal dysgenesis, can occur in girls ... ...
  http://youaskmdanswers.com/neonatal-genital-defects-male-and-female-defects/
*  Invitae - Home | Facebook
My daughter, for 10 years, has had only a clinical diagnosis of Noonan Syndrome. She had testing done way back in 2008 and ... New research opportunity from Turner Syndrome Foundation: TSRX. Turner Syndrome is proud to present the Turner Syndrome ... We are excited to be part of the recent launch of the Turner Syndrome Foundation research exchange! This joint effort seeks to ... individuals diagnosed with Lynch syndrome, and carriers of genetic variants in BRCA1 or BRCA2 have a higher risk of developing ...
  https://www.facebook.com/InVitae
*  Table of Contents - November 06, 2018, 115 (45) | PNAS
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis Lucy C. Young, Nicole ...
  http://www.pnas.org/content/115/45?current-issue=y
*  Genes | Free Full-Text | Genetic Profiling for Risk Reduction in Human Cardiovascular Disease | HTML
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 2001, 29, 465-468. [ ... Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991, 352, 337-339. [Google ... Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 1997, 15, 30-35. [ ... Five loci were those known to be involved in Mendelian long-QT syndromes, while the other five loci were genes that offer ...
  http://www.mdpi.com/2073-4425/5/1/214/htm
*  Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
Mutations in PTPN11 were not found in other cartilage tumor syndromes, including Ollier disease and Maffucci syndrome. We are ... as in the Multiple Osteochondroma syndrome (MO). In a hybrid syndrome, called metachondromatosis (MC), patients develop tumors ... These tumors can occur inside the bones, as with Ollier disease and Maffuci syndrome, or on the surface of bones, ... Author Summary Children with cartilage tumor syndromes form multiple tumors of cartilage next to joints. ...
  https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002050
*  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