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Items: 1 to 20 of 93

1.

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud D, Parfait B.

Am J Med Genet A. 2012 Sep;158A(9):2290-1. doi: 10.1002/ajmg.a.35496. Epub 2012 Jul 27.

PMID:
22847776
2.

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
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.

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
5.

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
6.

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
7.

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
8.

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.

9.

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
10.

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
11.

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE.

Am J Med Genet A. 2005 Jul 30;136(3):242-5.

PMID:
15948193
12.

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML.

Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5.

PMID:
21548061
13.

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
14.

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
15.

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.

16.

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.

17.

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.

18.

Noonan phenotype associated with neurofibromatosis.

Allanson JE, Hall JG, Van Allen MI.

Am J Med Genet. 1985 Jul;21(3):457-62.

PMID:
2411134
19.

Neurofibromatosis with fully expressed Noonan syndrome.

Abuelo DN, Meryash DL.

Am J Med Genet. 1988 Apr;29(4):937-41.

PMID:
3135755
20.

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cavé H, Sefiani A.

Am J Med Genet A. 2010 Nov;152A(11):2850-3. doi: 10.1002/ajmg.a.33685.

PMID:
20979190

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