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Items: 1 to 20 of 883

1.

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
2.

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
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.

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
5.

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.

6.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.

Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837.

PMID:
19449407
7.

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
8.

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.

9.

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.

10.

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
11.

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
12.

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Aug 13;6:12. doi: 10.1186/1479-7364-6-12.

13.

[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
14.

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.

15.

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
16.

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
17.

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
18.

Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

Kaufmann D, Müller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO, Fahsold R, Hein C, Vogel W, Assum G.

Am J Hum Genet. 2001 Dec;69(6):1395-400. Epub 2001 Oct 18.

19.

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].

Wimmer K.

Wien Med Wochenschr. 2005 Jun;155(11-12):273-80. German.

PMID:
16035388
20.

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
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