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Items: 1 to 20 of 100

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 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001. Epub 2013 May 30.

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. doi: 10.1371/journal.pgen.1002420. Epub 2012 Feb 16.

3.

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. doi: 10.1002/ajmg.a.33685.

PMID:
20979190
4.

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.

5.

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 22;105(29):10143-8. doi: 10.1073/pnas.0801267105. Epub 2008 Jul 16.

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. Epub 2004 Jul 9.

7.

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 1;182(1):40-2. doi: 10.1016/j.cancergencyto.2007.12.005.

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. doi: 10.1097/MPH.0000000000000002.

PMID:
24072241
9.

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 15;22(20):4117-26. doi: 10.1093/hmg/ddt260. Epub 2013 Jun 4.

10.

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.

Arnheim N, Calabrese P.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:219-43. doi: 10.1146/annurev-genom-083115-022656. Epub 2016 Apr 8. Review.

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. Epub 2005 Dec 7.

12.

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. Epub 2006 Feb 12. Erratum in: Nat Genet. 2006 May;38(5):598.

PMID:
16474405
13.

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. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

14.

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. Epub 2006 Dec 3.

PMID:
17143285
15.

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. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7.

PMID:
22315187
16.

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. doi: 10.1002/humu.22026. Epub 2012 Feb 14.

17.

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Essawi ML, Ismail MF, Afifi HH, Kobesiy MM, El Kotoury A, Barakat MM.

J Formos Med Assoc. 2013 Nov;112(11):707-12. doi: 10.1016/j.jfma.2012.06.002. Epub 2012 Aug 1.

18.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y.

J Hum Genet. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
19.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.

20.

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Yoshida R, Ogata T, Masawa N, Nagai T.

Pediatr Blood Cancer. 2008 Jun;50(6):1274-6. doi: 10.1002/pbc.21509.

PMID:
18253957

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