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Items: 1 to 20 of 37

1.

Prenatal findings in cardio-facio-cutaneous syndrome.

Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N.

Am J Med Genet A. 2016 Feb;170A(2):441-5. doi: 10.1002/ajmg.a.37420.

PMID:
26494162
2.

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Xu F, Wang HJ, Lin ZM, Yu B.

Clin Exp Dermatol. 2015 Jun;40(4):404-7. doi: 10.1111/ced.12571.

PMID:
25677562
3.

RAS diseases in children.

Niemeyer CM.

Haematologica. 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. Review.

4.

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.

Weaver KN, Wang D, Cnota J, Gardner N, Stabley D, Sol-Church K, Gripp KW, Witte DP, Bove KE, Hopkin RJ.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-30. doi: 10.2350/14-05-1488-OA.1.

5.

Early postnatal diagnosis of Costello syndrome.

Kargl S, Meissl M, Pumberger W.

Klin Padiatr. 2015 Jan;227(1):45-7. doi: 10.1055/s-0034-1377028.

PMID:
25062109
6.

The perinatal presentation of cardiofaciocutaneous syndrome.

Wong Ramsey KN, Loichinger MH, Slavin TP, Kuo S, Seaver LH.

Am J Med Genet A. 2014 Aug;164A(8):2036-42. doi: 10.1002/ajmg.a.36558.

PMID:
24719372
7.

Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.

Menke J, Pauli S, Sigler M, Kühnle I, Shoukier M, Zoll B, Ganster C, Salinas-Riester G, Schaefer IM.

J Clin Oncol. 2015 May 1;33(13):e62-5. doi: 10.1200/JCO.2013.49.6539. No abstract available.

PMID:
24637993
8.

Cellular evidence for selfish spermatogonial selection in aged human testes.

Maher GJ, Goriely A, Wilkie AO.

Andrology. 2014 May;2(3):304-14. doi: 10.1111/j.2047-2927.2013.00175.x. Review.

9.

Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.

Schwartz DD, Katzenstein JM, Hopkins E, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME.

Am J Med Genet A. 2013 Sep;161A(9):2258-65. doi: 10.1002/ajmg.a.36078.

10.

Orthopedic manifestations and implications for individuals with Costello syndrome.

Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW.

Am J Med Genet A. 2013 Aug;161A(8):1940-9. doi: 10.1002/ajmg.a.36047.

PMID:
23813656
11.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.

Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007.

PMID:
22926243
12.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Gripp KW, Bifeld E, Stabley DL, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G.

Am J Med Genet A. 2012 Sep;158A(9):2106-18. doi: 10.1002/ajmg.a.35449.

13.

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.

Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296.

14.

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan..

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292.

PMID:
22495831
15.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
16.

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K.

Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150.

17.

Orthopaedic conditions in Ras/MAPK related disorders.

Reinker KA, Stevenson DA, Tsung A.

J Pediatr Orthop. 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e.

PMID:
21654472
18.

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. doi: 10.1002/ajmg.c.30300.

19.

Enhanced human brain associative plasticity in Costello syndrome.

Dileone M, Profice P, Pilato F, Alfieri P, Cesarini L, Mercuri E, Leoni C, Tartaglia M, Di Iorio R, Zampino G, Di Lazzaro V.

J Physiol. 2010 Sep 15;588(Pt 18):3445-56. doi: 10.1113/jphysiol.2010.191072.

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