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Items: 1 to 20 of 52

1.
2.

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, et al.

Cell. 1993 Mar 12;72(5):791-800. Erratum in: Cell. 1993 Nov 19;75(4):826.

PMID:
8453669
3.

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.

Ruttledge MH, Narod SA, Dumanski JP, Parry DM, Eldridge R, Wertelecki W, Parboosingh J, Faucher MC, Lenoir GM, Collins VP, et al.

Neurology. 1993 Sep;43(9):1753-60.

PMID:
8414026
4.

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.

Sanson M, Marineau C, Desmaze C, Lutchman M, Ruttledge M, Baron C, Narod S, Delattre O, Lenoir G, Thomas G, et al.

Hum Mol Genet. 1993 Aug;2(8):1215-20.

PMID:
8401504
5.

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.

Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, et al.

Nature. 1993 Jun 10;363(6429):515-21.

PMID:
8379998
6.

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G.

Cell. 1993 Dec 3;75(5):959-68.

PMID:
8252631
7.

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J.

JAMA. 1993 Nov 17;270(19):2316-20. Erratum in: JAMA 1994 Oct 12;272(14):1104.

PMID:
8230593
8.

Ocular fundus in neurofibromatosis type 2.

Landau K, Yaşargil GM.

Br J Ophthalmol. 1993 Oct;77(10):646-9.

9.

The neurofibromatosis type 2 gene is inactivated in schwannomas.

Twist EC, Ruttledge MH, Rousseau M, Sanson M, Papi L, Merel P, Delattre O, Thomas G, Rouleau GA.

Hum Mol Genet. 1994 Jan;3(1):147-51.

PMID:
8162016
10.
11.

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Bourn D, Carter SA, Mason S, Gareth D, Evans R, Strachan T.

Hum Mol Genet. 1994 May;3(5):813-6.

PMID:
8081368
12.
13.

Exon scanning for mutation of the NF2 gene in schwannomas.

Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V, et al.

Hum Mol Genet. 1994 Mar;3(3):413-9.

PMID:
8012353
14.
15.

Mutational analysis of patients with neurofibromatosis 2.

MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al.

Am J Hum Genet. 1994 Aug;55(2):314-20.

16.

Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.

Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, van Drunen E, Bootsma D, Koper JW, Avezaat CJ, Kley N, et al.

Am J Hum Genet. 1994 Jun;54(6):1022-9.

17.

Genetics. One gene--four syndromes.

van Heyningen V.

Nature. 1994 Jan 27;367(6461):319-20. No abstract available.

PMID:
7906865
18.

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

Caspari R, Friedl W, Mandl M, Möslein G, Kadmon M, Knapp M, Jacobasch KH, Ecker KW, Kreissler-Haag D, Timmermanns G, et al.

Lancet. 1994 Mar 12;343(8898):629-32. Erratum in: Lancet 1994 Apr 2;343(8901):863.

PMID:
7906810
19.

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.

Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N.

Am J Med Genet. 1994 Oct 1;52(4):450-61.

PMID:
7747758
20.

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G, et al.

Hum Mutat. 1995;5(1):66-75.

PMID:
7728151

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