Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 17

1.

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM.

PLoS One. 2016 Dec 8;11(12):e0167847. doi: 10.1371/journal.pone.0167847. eCollection 2016.

2.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

4.

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

Ben-Shachar S, Constantini S, Hallevi H, Sach EK, Upadhyaya M, Evans GD, Huson SM.

Eur J Hum Genet. 2013 May;21(5):535-9. doi: 10.1038/ejhg.2012.221. Epub 2012 Oct 10.

5.

Cross-species analyses identify the BNIP-2 and Cdc42GAP homology (BCH) domain as a distinct functional subclass of the CRAL_TRIO/Sec14 superfamily.

Gupta AB, Wee LE, Zhou YT, Hortsch M, Low BC.

PLoS One. 2012;7(3):e33863. doi: 10.1371/journal.pone.0033863. Epub 2012 Mar 27.

6.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M, Gelb BD.

Ann N Y Acad Sci. 2010 Dec;1214:99-121. doi: 10.1111/j.1749-6632.2010.05790.x. Epub 2010 Oct 19. Review.

7.

SPRED 1 mutations in a neurofibromatosis clinic.

Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao.

J Child Neurol. 2010 Oct;25(10):1203-9. doi: 10.1177/0883073809359540. Epub 2010 Feb 22.

8.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L.

Am J Hum Genet. 2007 Jan;80(1):140-51. Epub 2006 Dec 8.

9.

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Stevenson DA, Viskochil DH, Rope AF, Carey JC.

Clin Genet. 2006 Mar;69(3):246-53.

10.

A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.

D'Angelo I, Welti S, Bonneau F, Scheffzek K.

EMBO Rep. 2006 Feb;7(2):174-9.

11.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B.

Am J Hum Genet. 2005 Dec;77(6):1092-101. Epub 2005 Oct 26.

12.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.

Am J Hum Genet. 2002 Aug;71(2):389-94. Epub 2002 Jun 7.

13.

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC.

J Med Genet. 1998 Apr;35(4):323-7.

14.

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X.

Am J Hum Genet. 1998 Apr;62(4):834-41.

15.

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H.

Am J Hum Genet. 1998 Feb;62(2):286-94.

16.

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Kayes LM, Burke W, Riccardi VM, Bennett R, Ehrlich P, Rubenstein A, Stephens K.

Am J Hum Genet. 1994 Mar;54(3):424-36.

17.

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

Legius E, Wu R, Eyssen M, Marynen P, Fryns JP, Cassiman JJ.

J Med Genet. 1995 Apr;32(4):316-9.

Supplemental Content

Support Center