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Items: 1 to 20 of 97

1.

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN.

Hum Genet. 1998 May;102(5):591-7.

PMID:
9654211
2.

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

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

Hum Genet. 1997 Jun;99(6):720-6.

PMID:
9187663
3.

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR.

Am J Med Genet. 1995 Dec 4;59(4):528-35.

PMID:
8585580
4.

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X.

Hum Genet. 1996 Dec;98(6):696-9.

PMID:
8931703
5.

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR.

J Med Genet. 1998 Jun;35(6):468-71.

6.

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.

7.

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.

Jenne DE, Tinschert S, Stegmann E, Reimann H, Nürnberg P, Horn D, Naumann I, Buske A, Thiel G.

Genomics. 2000 May 15;66(1):93-7.

PMID:
10843809
8.

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
9.
10.

Do NF1 gene deletions result in a characteristic phenotype?

Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V.

Am J Med Genet. 1997 Nov 28;73(1):80-6.

PMID:
9375928
11.

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN.

Hum Mutat. 2004 Feb;23(2):134-46.

PMID:
14722917
12.

Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

Balgobind BV, Van Vlierberghe P, van den Ouweland AM, Beverloo HB, Terlouw-Kromosoeto JN, van Wering ER, Reinhardt D, Horstmann M, Kaspers GJ, Pieters R, Zwaan CM, Van den Heuvel-Eibrink MM, Meijerink JP.

Blood. 2008 Apr 15;111(8):4322-8. doi: 10.1182/blood-2007-06-095075. Epub 2008 Jan 2.

13.

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
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18.

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de Goede-Bolder A, van den Ouweland AM, Halley DJ, Niermeijer MF.

Hum Mutat. 1997;9(5):458-64.

PMID:
9143927
19.

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.

Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, Jenne DE.

Eur J Hum Genet. 2000 Jun;8(6):455-9.

20.

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E.

Genes Chromosomes Cancer. 2006 Oct;45(10):893-904.

PMID:
16830335
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