Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

1.

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.

PMID:
16542390
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16380919
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE.

Genet Test. 2006 Fall;10(3):186-91.

PMID:
17020470
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
8317503
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Neurofibromatosis with fully expressed Noonan syndrome.

Abuelo DN, Meryash DL.

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

PMID:
3135755
[PubMed - indexed for MEDLINE]
14.

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ.

Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12.

PMID:
21567923
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
1348095
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF.

J Med Genet. 1992 Mar;29(3):184-7.

PMID:
1348094
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Carcavilla A, Pinto I, Muñoz-Pacheco R, Barrio R, Martin-Frías M, Ezquieta B.

Eur J Pediatr. 2011 Aug;170(8):1069-74. doi: 10.1007/s00431-011-1418-5. Epub 2011 Mar 2.

PMID:
21365175
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
12058348
[PubMed - indexed for MEDLINE]
Free PMC Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk