Paper Chase is a research database designed to offer abstracts of research articles published in journals that have a highly rated impact factor as determined by ISI Impact Factor and PageRank. Abstracts are organized by date, with the most recently published papers listed first. 

Paper Chase

241.

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Nat. Genet.
Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW.
| 10 1, 1993
242.

Screening patients for heterozygous p53 mutations using a functional assay in yeast.

Nat. Genet.
Ishioka C, Frebourg T, Yan YX, Vidal M, Friend SH, Schmidt S, Iggo R.
| 10 1, 1993
243.

Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor.

Nat. Genet.
Wasco W, Gurubhagavatula S, Paradis MD, Romano DM, Sisodia SS, Hyman BT, Neve RL, Tanzi RE.
| 9 1, 1993
244.

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Nat. Genet.
Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
| 9 1, 1993
245.

The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma.

Nat. Genet.
Park S, Schalling M, Bernard A, Maheswaran S, Shipley GC, Roberts D, Fletcher J, Shipman R, Rheinwald J, Demetri G.
| 8 1, 1993
246.

Trinucleotide repeat length instability and age of onset in Huntington's disease.

Nat. Genet.
Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M.
| 8 1, 1993
247.

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

Nat. Genet.
Dryja TP, Berson EL, Rao VR, Oprian DD.
| 7 1, 1993
250.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

Nat. Genet.
Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO.
| 6 1, 1993
251.

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.

Nat. Genet.
Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE.
| 4 1, 1993
252.

The structural and functional diversity of dystrophin.

Nat. Genet.
Ahn AH, Kunkel LM.
| 4 1, 1993
253.

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Nat. Genet.
Kajiwara K, Sandberg MA, Berson EL, Dryja TP.
| 3 1, 1993
254.

Neurofibromatosis type 1 gene mutations in neuroblastoma.

Nat. Genet.
The I, Murthy AE, Hannigan GE, Jacoby LB, Menon AG, Gusella JF, Bernards A.
| 1 1, 1993
255.

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Nat. Genet.
Glaser T, Walton DS, Maas RL.
| 11 1, 1992
256.

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification.

Nat. Genet.
Taylor SA, Snell RG, Buckler A, Ambrose C, Duyao M, Church D, Lin CS, Altherr M, Bates GP, Groot N.
| 11 1, 1992
257.

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

Nat. Genet.
McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH.
| 10 11, 1992
258.

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Nat. Genet.
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP.
| 6 1, 1992
259.

The Huntington's disease candidate region exhibits many different haplotypes.

Nat. Genet.
MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R.
| 5 1, 1992