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Items: 1 to 20 of 116

1.

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.

J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.

PMID:
19443465
2.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.

J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14.

PMID:
19366998
3.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PMID:
17704776
4.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. Review.

5.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
6.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.

J Biol Chem. 2016 Feb 12;291(7):3124-34. doi: 10.1074/jbc.M115.703710. Epub 2015 Dec 3.

7.

Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with a SPRED1 mutation and orbital manifestations.

Lane KA, Anninger WV, Katowitz JA.

Ophthal Plast Reconstr Surg. 2009 Sep-Oct;25(5):399-401. doi: 10.1097/IOP.0b013e3181b59eea. Retraction in: Lane KA, Anninger WV, Katowitz JA. Ophthal Plast Reconstr Surg. 2010 Mar-Apr;26(2):145.

PMID:
19966658
8.

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L.

Hum Mutat. 2012 Nov;33(11):1538-46. doi: 10.1002/humu.22152. Epub 2012 Aug 1. Review.

PMID:
22753041
9.

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernández H, Burlingame AL, McCormick F.

Genes Dev. 2012 Jul 1;26(13):1421-6. doi: 10.1101/gad.190876.112.

10.

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B.

Am J Med Genet A. 2013 Mar;161A(3):467-72. doi: 10.1002/ajmg.a.35718. Epub 2013 Feb 7.

PMID:
23401230
11.

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.

12.

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.

Am J Med Genet A. 2010 Aug;152A(8):1973-8. doi: 10.1002/ajmg.a.33525.

13.

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P.

Oncogene. 2015 Jan 29;34(5):631-8. doi: 10.1038/onc.2013.587. Epub 2014 Jan 27.

PMID:
24469042
14.

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G.

Clin Genet. 2009 Dec;76(6):524-34. doi: 10.1111/j.1399-0004.2009.01233.x. Epub 2009 Oct 21.

PMID:
19845691
15.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network., Huson SM.

EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13.

16.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.

Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14.

PMID:
24232412
17.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S.

Genet Couns. 2009;20(2):195-202.

PMID:
19650418
18.

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML.

Acta Paediatr. 2009 Apr;98(4):693-8. doi: 10.1111/j.1651-2227.2008.01170.x. Epub 2008 Dec 18.

PMID:
19120036
19.

Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

Terzi YK, Sirin B, Hosgor G, Serdaroglu E, Anlar B, Aysun S, Ayter S.

Childs Nerv Syst. 2012 Jun;28(6):943-6. doi: 10.1007/s00381-011-1648-x. Epub 2011 Dec 9. No abstract available.

PMID:
22159552
20.

[From gene to disease; neurofibromatosis type 1].

de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.

Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Review. Dutch.

PMID:
11572174

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