These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 23726368)

  • 1. Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.
    Yoon SR; Choi SK; Eboreime J; Gelb BD; Calabrese P; Arnheim N
    Am J Hum Genet; 2013 Jun; 92(6):917-26. PubMed ID: 23726368
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.
    Choi SK; Yoon SR; Calabrese P; Arnheim N
    PLoS Genet; 2012; 8(2):e1002420. PubMed ID: 22359510
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
    Eboreime J; Choi SK; Yoon SR; Sadybekov A; Katritch V; Calabrese P; Arnheim N
    Hum Mutat; 2022 Dec; 43(12):2205-2221. PubMed ID: 36349709
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
    Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
    BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
    Elalaoui SC; Kraoua L; Liger C; Ratbi I; Cavé H; Sefiani A
    Am J Med Genet A; 2010 Nov; 152A(11):2850-3. PubMed ID: 20979190
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
    Tartaglia M; Cordeddu V; Chang H; Shaw A; Kalidas K; Crosby A; Patton MA; Sorcini M; van der Burgt I; Jeffery S; Gelb BD
    Am J Hum Genet; 2004 Sep; 75(3):492-7. PubMed ID: 15248152
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The molecular anatomy of spontaneous germline mutations in human testes.
    Qin J; Calabrese P; Tiemann-Boege I; Shinde DN; Yoon SR; Gelfand D; Bauer K; Arnheim N
    PLoS Biol; 2007 Sep; 5(9):e224. PubMed ID: 17760502
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.
    Sakamoto K; Imamura T; Asai D; Goto-Kawashima S; Yoshida H; Fujiki A; Furutani A; Ishida H; Aoki Y; Hosoi H
    J Pediatr Hematol Oncol; 2014 Mar; 36(2):e136-9. PubMed ID: 24072241
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
    Mutesa L; Pierquin G; Janin N; Segers K; Thomée C; Provenzi M; Bours V
    Cancer Genet Cytogenet; 2008 Apr; 182(1):40-2. PubMed ID: 18328949
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.
    Choi SK; Yoon SR; Calabrese P; Arnheim N
    Proc Natl Acad Sci U S A; 2008 Jul; 105(29):10143-8. PubMed ID: 18632557
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
    Tartaglia M; Martinelli S; Stella L; Bocchinfuso G; Flex E; Cordeddu V; Zampino G; Burgt Iv; Palleschi A; Petrucci TC; Sorcini M; Schoch C; Foa R; Emanuel PD; Gelb BD
    Am J Hum Genet; 2006 Feb; 78(2):279-90. PubMed ID: 16358218
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.
    Arnheim N; Calabrese P
    Annu Rev Genomics Hum Genet; 2016 Aug; 17():219-43. PubMed ID: 27070266
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
    Shinde DN; Elmer DP; Calabrese P; Boulanger J; Arnheim N; Tiemann-Boege I
    Hum Mol Genet; 2013 Oct; 22(20):4117-26. PubMed ID: 23740942
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.
    Morales-Rosado JA; Singh H; Olson RJ; Larsen BT; Hager MM; Klee EW; Dhamija R
    Am J Med Genet A; 2021 Jun; 185(6):1883-1887. PubMed ID: 33779033
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Germline KRAS mutations cause Noonan syndrome.
    Schubbert S; Zenker M; Rowe SL; Böll S; Klein C; Bollag G; van der Burgt I; Musante L; Kalscheuer V; Wehner LE; Nguyen H; West B; Zhang KY; Sistermans E; Rauch A; Niemeyer CM; Shannon K; Kratz CP
    Nat Genet; 2006 Mar; 38(3):331-6. PubMed ID: 16474405
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
    Pauli S; Steinemann D; Dittmann K; Wienands J; Shoukier M; Möschner M; Burfeind P; Manukjan G; Göhring G; Escherich G
    Am J Med Genet A; 2012 Mar; 158A(3):652-8. PubMed ID: 22315187
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Noonan syndrome: Severe phenotype and PTPN11 mutations.
    Carrasco Salas P; Gómez-Molina G; Carreto-Alba P; Granell-Escobar R; Vázquez-Rico I; León-Justel A
    Med Clin (Barc); 2019 Jan; 152(2):62-64. PubMed ID: 29703613
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
    Jongmans MC; van der Burgt I; Hoogerbrugge PM; Noordam K; Yntema HG; Nillesen WM; Kuiper RP; Ligtenberg MJ; van Kessel AG; van Krieken JH; Kiemeney LA; Hoogerbrugge N
    Eur J Hum Genet; 2011 Aug; 19(8):870-4. PubMed ID: 21407260
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
    Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS
    Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
    Ferrero GB; Picco G; Baldassarre G; Flex E; Isella C; Cantarella D; Corà D; Chiesa N; Crescenzio N; Timeus F; Merla G; Mazzanti L; Zampino G; Rossi C; Silengo M; Tartaglia M; Medico E
    Hum Mutat; 2012 Apr; 33(4):703-9. PubMed ID: 22253195
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.