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Items: 1 to 20 of 132

1.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Yimenicioğlu S, Yakut A, Karaer K, Zenker M, Ekici A, Carman KB.

Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.

PMID:
22965773
2.

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.

3.

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A.

Am J Med Genet A. 2006 Dec 15;140(24):2749-56.

PMID:
17103458
4.

Screening for mutation site on the type I neurofibromatosis gene in a family.

Lv M, Zhao W, Yan L, Chen L, Cui K, Gao J, Yu F, Li S.

Childs Nerv Syst. 2012 May;28(5):721-7. doi: 10.1007/s00381-011-1653-0. Epub 2011 Dec 30.

5.

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.

Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19.

PMID:
24357598
6.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D.

Am J Med Genet. 1998 Jan 23;75(3):265-72.

PMID:
9475595
7.

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Estivill X, Lázaro C, Casals T, Ravella A.

Hum Genet. 1991 Dec;88(2):185-8.

PMID:
1757093
8.

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
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.

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D.

Am J Med Genet. 1996 Dec 18;66(3):347-55.

PMID:
8985499
11.

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C.

Am J Med Genet A. 2003 May 15;119A(1):1-8.

PMID:
12707950
12.

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N.

Am J Hum Genet. 1993 Jul;53(1):90-5.

13.

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

Colley A, Donnai D, Evans DG.

Clin Genet. 1996 Feb;49(2):59-64.

PMID:
8740913
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.

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

Valero MC, Velasco E, Moreno F, Hernández-Chico C.

Hum Mol Genet. 1994 Apr;3(4):639-41.

PMID:
8069310
16.

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Messiaen L, Callens T, De Paepe A, Craen M, Mortier G.

Hum Genet. 1997 Nov;101(1):75-80.

PMID:
9385374
17.

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

Upadhyaya M, Osborn M, Maynard J, Harper P.

Am J Med Genet. 1996 Jul 26;67(4):421-3.

PMID:
8837715
18.

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS.

Hum Mol Genet. 1992 Dec;1(9):735-40.

PMID:
1302608
19.

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

Buske A, Gewies A, Lehmann R, Rüther K, Algermissen B, Nürnberg P, Tinschert S.

Am J Med Genet. 1999 Oct 8;86(4):328-30.

PMID:
10494088
20.

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Sharland M, Taylor R, Patton MA, Jeffery S.

J Med Genet. 1992 Mar;29(3):188-90.

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