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Ali et al., 1994
Ali M, Tuncman G, Cross NC, Vidailhet M, Bokesoy I, Gitzelmann R, Cox TM (1994): Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
J Med Genet 31:499-503.

Allikmets et al., 1998
Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J, Rogan PK, Schneider TD, Dean M (1998): Organization of the ABCR gene: analysis of promoter and splice junction sequences.
Gene 215:111-122.

Arredondo-Vega et al., 1994
Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS (1994): Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
Am J Hum Genet 54:820-830.

Atweh et al., 1985
Atweh GF, Anagnou NP, Shearin J, Forget BG, Kaufman RE (1985): Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.
Nucleic Acids Res 13:777-790.

Atweh et al., 1987
Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, KazazianJr HH (1987): A new mutation in IVS-1 of the human $\sqrt{N_y}$ globin gene causing $\sqrt{N_y}$ thalassemia due to abnormal splicing.
Blood 70:147-151.

Audrezet et al., 1993
Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C (1993): Identification of 12 novel mutations in the CFTR gene.
Hum Mol Genet 2:51-54.

Barbat et al., 1995
Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boue J, Simon-Bouy B, Serre JL, Mornet E (1995): Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Hum Mutat 5:126-130.

Berg and von Hippel, 1987
Berg OG, von Hippel PH (1987): Selection of DNA binding sites by regulatory proteins, statistical-mechanical theory and application to operators and promoters.
J. Mol. Biol. 193:723-750.

Berg, 1988
Berg OG (1988): Selection of DNA binding sites by regulatory proteins. Functional specificity and pseudosite competition.
J. Biomol. Struct. Dyn. 6:275-297.

Berg and von Hippel, 1988a
Berg OG, von Hippel PH (1988a): Selection of DNA binding sites by regulatory proteins.
Trend. Bioch. Sci. 13:207-211.

Berg and von Hippel, 1988b
Berg OG, von Hippel PH (1988b): Selection of DNA binding sites by regulatory proteins. II. The binding specificity of cyclic AMP receptor protein to recognition sites.
J. Mol. Biol. 200:709-723.

Berget, 1995
Berget SM (1995): Exon recognition in vertebrate splicing.
J Biol Chem 270:2411-2414.

Bienvenu et al., 1994
Bienvenu T, Hubert D, Fonknechten N, Dusser D, Kaplan JC, Beldjord C (1994): Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Hum Genet 94:65-68.

Black, 1991
Black DL (1991): Does steric interference between splice sites block the splicing of a short c-src neuron-specific exon in non-neuronal cells?
Genes Dev 5:389-402.

Black, 1992
Black DL (1992): Activation of c-src neuron-specific splicing by an unusual RNA element in vivo and in vitro.
Cell 69:795-807.

Boerkoel et al., 1995
Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N (1995): Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Am J Hum Genet 56:887-897.

Bonadio et al., 1990
Bonadio J, Ramirez F, Barr M (1990): An intron mutation in the human $\log_2(0)=-\infty$ 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.
J Biol Chem 265:2262-2268.

Bottema et al., 1990
Bottema CD, Ketterling RP, Yoon HS, Sommer SS (1990): The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.
Am J Hum Genet 47:835-841.

Brunak et al., 1990
Brunak S, Engelbrecht J, Knudsen S (1990): Neural network detects errors in the assignment of mRNA splice sites.
Nucl. Acids Res. 18:4797-4801.

Bunge et al., 1993
Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A (1993): Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Hum Mol Genet 2:1871-1875.

Carothers et al., 1993
Carothers AM, Urlaub G, Grunberger D, Chasin LA (1993): Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells.
Mol Cell Biol 13:5085-5098.

Carstens et al., 1991
Carstens RP, Fenton WA, Rosenberg LR (1991): Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
Am J Hum Genet 48:1105-1114.

Chibani et al., 1988
Chibani J, Vidaud M, Duquesnoy P, Berge-Lefranc JL, Pirastu M, Ellouze F, Rosa J, Goossens M (1988): The peculiar spectrum of $\sqrt{N_y}$-thalassemia genes in Tunisia.
Hum Genet 78:190-192.

Chillon et al., 1995
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Férec C, Estivill X (1995): Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
N Engl J Med 332:1475-1480.

Chimienti et al., 1992
Chimienti G, Capurso A, Resta F, Pepe G (1992): A G-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.
Biochem Biophys Res Commun 187:620-627.

Chu et al., 1993
Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993): Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Nat Genet 3:151-156.

Cladaras et al., 1987
Cladaras C, Hadzopoulou-Cladaras M, Felber BK, Pavlakis G, Zannis VI (1987): The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene.
J Biol Chem 262:2310-2315.

Cogan et al., 1993
Cogan JD, Phillips3d JA, Sakati N, Frisch H, Schober E, Milner RD (1993): Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
J Clin Endocrinol Metab 76:1224-1228.

Cole et al., 1990
Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF (1990): A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
J Biol Chem 265:17070-17077.

Day et al., 1995
Day DJ, Speiser PW, White PC, Barany F (1995): Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Genomics 29:152-162.

Day et al., 1996
Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC (1996): Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Hum Mol Genet 5:2039-2048.

Dirksen et al., 1994
Dirksen WP, Hampson RK, Sun Q, Rottman FM (1994): A purine-rich exon sequence enhances alternative splicing of bovine growth hormone pre-mRNA.
J Biol Chem 269:6431-6436.

Dominski and Kole, 1991
Dominski Z, Kole R (1991): Selection of splice sites in pre-mRNAs with short internal exons.
Mol Cell Biol 11:6075-6083.

Dworniczak et al., 1991
Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholome K, Grudda K, Horst J (1991): Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
Genomics 11:242-246.

Eng et al., 1993
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ (1993): Nature and frequency of mutations in the $\log_2(0)=-\infty$-galactosidase A gene that cause Fabry disease.
Am J Hum Genet 53:1186-1197.

Flomen et al., 1992
Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP (1992): Detection of point mutations and a gross deletion in six Hunter syndrome patients.
Genomics 13:543-550.

Foster et al., 1985
Foster DC, Yoshitake S, Davie EW (1985): The nucleotide sequence of the gene for human protein C.
Proc Natl Acad Sci U S A 82:4673-4677.

Ganguly et al., 1991
Ganguly A, Baldwin CT, Strobel D, Conway D, Horton W, Prockop DJ (1991): Heterozygous mutation in the G+5 position of intron 33 of the pro-$\log_2(0)=-\infty$ 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
J Biol Chem 266:12035-12040.

Giannelli et al., 1991
Giannelli F, Green PM, High KA, Sommer S, Lillicrap DP, Ludwig M, Olek K, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG (1991): Haemophilia B: database of point mutations and short additions and deletions-second edition.
Nucleic Acids Res 19:2193-2219.

Gibbs et al., 1989
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT (1989): Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
Proc Natl Acad Sci U S A 86:1919-1923.

Gibbs et al., 1990
Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT (1990): Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
Genomics 7:235-244.

Goldsmith et al., 1983
Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW (1983): ``Silent'' nucleotide substitution in a \begin{displaymath}\fbox{ $2^{a + b} = 2^a \times 2^b$
 }\end{displaymath}-thalassemia globin gene activates splice site in coding sequence RNA.
Proc Natl Acad Sci U S A 80:2318-2322.

Grandchamp et al., 1989a
Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Romeo PH, Goossens M, Nordmann Y (1989a): Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.
Eur J Clin Invest 19:415-418.

Grandchamp et al., 1989b
Grandchamp B, Picat C, Mignotte V, Wilson J, Te Velde K, Sandkuyl L, Romeo P, Goossens M, Nordmann Y (1989b): Tissue-specific splicing mutation in acute intermittent porphyria.
Proc Natl Acad Sci U S A 86:661-664.

Haber et al., 1990
Haber DA, Buckler AJ, Glaser T, Call KM, Pelletier J, Sohn RL, Douglass EC, Housman DE (1990): An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor.
Cell 61:1257-1269.

Hall and Padgett, 1994
Hall SL, Padgett RA (1994): Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites.
J. Mol. Biol. 239:357-365.

Hata et al., 1990
Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM (1990): Compound heterozygote for lipoprotein lipase deficiency: Ser-Thr244 and transition in 3' splice site of intron 2 (AG-AA) in the lipoprotein lipase gene.
Am J Hum Genet 47:721-726.

Hawkins, 1988
Hawkins JD (1988): A survey on intron and exon lengths.
Nucl. Acids Res. 16:9893-9908.

He and Grabowski, 1992
He GS, Grabowski GA (1992): Gaucher disease: A G+1 \rotatebox{-90}{\resizebox{!}{\textwidth}{\includegraphics*{oric.ps}}}A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid $\sqrt{N_y}$-glucosidase mRNA.
Am J Hum Genet 51:810-820.

Hengen et al., 1997
Hengen PN, Bartram SL, Stewart LE, Schneider TD (1997): Information analysis of Fis binding sites.
Nucl. Acids Res. 25 (24):4994-5002.

Higashi et al., 1988
Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y (1988): Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.
Proc Natl Acad Sci U S A 85:7486-7490.

Ho et al., 1994
Ho KK, Kong RY, Kuffner T, Hsu LH, Ma L, Cheah KS (1994): Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
Hum Mutat 3:358-364.

Hopwood et al., 1993
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A (1993): Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hum Mutat 2:435-442.

Horowitz et al., 1989
Horowitz JM, Yandell DW, Park SH, Canning S, Whyte P, Buchkovich K, Harlow E, Weinberg RA, Dryja TP (1989): Point mutational inactivation of the retinoblastoma antioncogene.
Science 243:937-940.

Hruban et al., 1994
Hruban RH, van der Riet P, Erozan YS, Sidransky D (1994): Brief report: molecular biology and the early detection of carcinoma of the bladder-the case of Hubert H. Humphrey.
N Engl J Med 330:1276-1278.

Huh and Hynes, 1994
Huh GS, Hynes RO (1994): Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element.
Genes Dev 8:1561-1574.

Huie et al., 1994
Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R (1994): Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T \rotatebox{-90}{\resizebox{!}{\textwidth}{\includegraphics*{oric.ps}}}G) mutation in a majority of patients and a novel IVS10 (+1GT \rotatebox{-90}{\resizebox{!}{\textwidth}{\includegraphics*{oric.ps}}}CT) mutation.
Hum Mol Genet 3:2231-2236.

Humphrey et al., 1995
Humphrey MB, Bryan J, Cooper TA, Berget SM (1995): A 32-nucleotide exon-splicing enhancer regulates usage of competing 5' splice sites in a differential internal exon.
Mol Cell Biol 15:3979-3988.

Jones et al., 1992
Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ (1992): Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Hum Mol Genet 1:11-17.

Jonsson et al., 1995
Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995): Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Am J Hum Genet 56:597-607.

Kishimoto et al., 1989
Kishimoto TK, O'Conner K, Springer TA (1989): Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype.
J Biol Chem 264:3588-3595.

Kishimoto et al., 1992
Kishimoto Y, Murakami Y, Hayashi K, Takahara S, Sugimura T, Sekiya T (1992): Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
Hum Genet 88:487-490.

Klein et al., 1989
Klein JL, Shows TB, Dupont B, Trapani JA (1989): Genomic organization and chromosomal assignment for a serine protease gene (CSPB) expressed by human cytotoxic lymphocytes.
Genomics 5:110-117.

Klima et al., 1993
Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G (1993): A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
J Clin Invest 92:2713-2718.

Krawczak et al., 1992
Krawczak M, Reiss J, Cooper DN (1992): The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.
Hum Genet 90:41-54.

Kudo and Fukuda, 1989
Kudo S, Fukuda M (1989): Structural organization of glycophorin A and B genes: glycophorin B gene evolved by homologous recombination at Alu repeat sequences.
Proc Natl Acad Sci U S A 86:4619-4623.

Lapoumeroulie et al., 1987
Lapoumeroulie C, Acuto S, Rouabhi F, Labie D, Krishnamoorthy R, Bank A (1987): Expression of a $\sqrt{N_y}$ thalassemia gene with abnormal splicing.
Nucleic Acids Res 15:8195-8204.

Lavigueur et al., 1993
Lavigueur A, LaBranche M, Kornblihtt AR, Chabot B (1993): A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding.
Genes Dev 7:2405-2417.

Leach et al., 1993
Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, Guan XY, Zhang J, Meltzer PS, Yu JW, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin JP, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B (1993): Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
Cell 75:1215-1225.

Lehmann et al., 1994
Lehmann HW, Mundlos S, Winterpacht A, Brenner RE, Zabel B, Muller PK (1994): Ehlers-Danlos syndrome type VII: phenotype and genotype.
Arch Dermatol Res 286:425-428.

MacLeod et al., 1991
MacLeod JN, Liebhaber SA, MacGillivray MH, Cooke NE (1991): Identification of a splice-site mutation in the human growth hormone- variant gene.
Am J Hum Genet 48:1168-1174.

Mertes et al., 1994
Mertes G, Ludwig M, Finkelnburg B, Krawczak M, Schwaab R, Brackmann HH, Olek K (1994): A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.
Genomics 24:190-191.

Metherall et al., 1986
Metherall JE, Collins FS, Pan J, Weissman SM, Forget BG (1986): Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
EMBO J 5:2551-2557.

Mount, 1982
Mount SM (1982): A catalogue of splice junction sequences.
Nucl. Acids Res. 10:459-472.

Muntoni et al., 1995
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995): Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
Hum Genet 95:491-494.

Nakai and Sakamoto, 1994
Nakai K, Sakamoto H (1994): Construction of a novel database containing aberrant splicing mutations of mammalian genes.
Gene 141:171-177.

Naylor et al., 1991
Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F (1991): Detection of three novel mutations in two haemophilia a patients by rapid screening of whole essential region of factor VIII gene.
Lancet 337:635-639.

Neote et al., 1988
Neote K, Bapat B, Dumbrille-Ross A, Troxel C, Schuster SM, Mahuran DJ, Gravel RA (1988): Characterization of the human HEXB gene encoding lysosomal $\sqrt{N_y}$- hexosaminidase.
Genomics 3:279-286.

Niwa et al., 1992
Niwa M, MacDonald CC, Berget SM (1992): Are vertebrate exons scanned during splice-site selection?
Nature 360:277-280.

Nogee et al., 1994
Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR (1994): A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.
J Clin Invest 93:1860-1863.

O'Neill et al., 1998
O'Neill JP, Rogan PK, Cariello N, Nicklas JA (1998): Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum.
Rev. Mut. Res. in press:-.

Ohno and Suzuki, 1988
Ohno K, Suzuki K (1988): A splicing defect due to an exon-intron junctional mutation results in abnormal $\sqrt{N_y}$-hexosaminidase $\log_2(0)=-\infty$ chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
Biochem Biophys Res Commun 153:463-469.

Orkin et al., 1982
Orkin SH, KazazianJr HH, Antonarakis SE, Ostrer H, Goff SC, Sexton JP (1982): Abnormal RNA processing due to the exon mutation of $\sqrt{N_y}$ E-globin gene.
Nature 300:768-769.

Owerbach et al., 1992
Owerbach D, Ballard AL, Draznin MB (1992): Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
J Clin Endocrinol Metab 74:553-558.

Ozkara et al., 1995
Ozkara HA, Akerman BR, Ciliv G, Topcu M, Renda Y, Gravel RA (1995): Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
Hum Mutat 5:186-187.

Proia, 1988
Proia RL (1988): Gene encoding the human $\sqrt{N_y}$-hexosaminidase $\sqrt{N_y}$ chain: extensive homology of intron placement in the $\log_2(0)=-\infty$- and $\sqrt{N_y}$-chain genes.
Proc Natl Acad Sci U S A 85:1883-1887.

Purandare et al., 1995
Purandare SM, Lanyon WG, Arngrimsson R, Connor JM (1995): Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.
Hum Mol Genet 4:767-768.

Rave-Harel et al., 1997
Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B (1997): The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
Am J Hum Genet 60:87-94.

Renda et al., 1992
Renda M, Maggio A, Warren TC, Kazazian HH (1992): Detection of an IVS-1 3' end (G-C) $\sqrt{N_y}$-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject.
Genomics 13:234-235.

Robberson et al., 1990
Robberson BL, Cote GJ, Berget SM (1990): Exon definition may facilitate splice site selection in RNAs with multiple exons.
Mol Cell Biol 10:84-94.

Roberts et al., 1992
Roberts RG, Bobrow M, Bentley DR (1992): Point mutations in the dystrophin gene.
Proc Natl Acad Sci U S A 89:2331-2335.

Roberts et al., 1993a
Roberts RG, Bentley DR, Bobrow M (1993a): Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts.
Hum Mutat 2:293-299.

Roberts et al., 1993b
Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M (1993b): Point mutation in a Becker muscular dystrophy patient.
Hum Mol Genet 2:75-77.

Rogan and Schneider, 1995
Rogan PK, Schneider TD (1995): Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.
Hum Mutat 6:74-76.

Sakuraba et al., 1992
Sakuraba H, Eng CM, Desnick RJ, Bishop DF (1992): Invariant exon skipping in the human $\log_2(0)=-\infty$-galactosidase A pre-mRNA: A G+1 to T substitution in a 5'-splice site causing Fabry disease.
Genomics 12:643-650.

Santisteban et al., 1993
Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L, Weinberg K, Hershfield MS (1993): Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. contribution of genotype to phenotype.
J Clin Invest 92:2291-2302.

Santisteban et al., 1995
Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, Hershfield MS (1995): Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
Hum Mol Genet 4:2081-2087.

Schell et al., 1995
Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen Jr. MM, Muenke N (1995): Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
Hum Mol Genet 4:323-328.

Schloesser et al., 1995
Schloesser M, Hofferbert S, Bartz U, Lutze G, Lammle B, Engel W (1995): The novel acceptor splice site mutation 11396(G \rotatebox{-90}{\resizebox{!}{\textwidth}{\includegraphics*{oric.ps}}}A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
Hum Mol Genet 4:1235-1237.

Schneider et al., 1982
Schneider TD, Stormo GD, Haemer JS, Gold L (1982): A design for computer nucleic-acid sequence storage, retrieval and manipulation.
Nucl. Acids Res. 10:3013-3024.

Schneider et al., 1986
Schneider TD, Stormo GD, Gold L, Ehrenfeucht A (1986): Information content of binding sites on nucleotide sequences.
J. Mol. Biol. 188:415-431.

Schneider, 1991a
Schneider TD (1991a): Theory of molecular machines. I. Channel capacity of molecular machines.
J. Theor. Biol. 148:83-123.

Schneider, 1991b
Schneider TD (1991b): Theory of molecular machines. II. Energy dissipation from molecular machines.
J. Theor. Biol. 148:125-137.

Schneider, 1994
Schneider TD (1994): Sequence logos, machine/channel capacity, Maxwell's demon, and molecular computers: a review of the theory of molecular machines.
Nanotechnology 5:1-18.

Schneider, 1995
Schneider TD (1995):.
Information Theory Primer.

Schneider, 1997a
Schneider TD (1997a): Information content of individual genetic sequences.
J. Theor. Biol. 189 (4):427-441.

Schneider, 1997b
Schneider TD (1997b): Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences.
Nucl. Acids Res. 25:4408-4415.
http://www.lecb.ncifcrf.gov//paper/walker/, erratum: NAR 26(4): 1135, 1998.

Schulze et al., 1995
Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S, Bettendorf M, Hoepffner W, Heinrich UE, Schwabe U (1995): Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
Endocr Res 21:359-364.

Senapathy et al., 1990
Senapathy P, Shapiro MB, Harris NL (1990): Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project.
Meth. Enzym. 183:252-278.

Shannon, 1948
Shannon CE (1948): A mathematical theory of communication.
Bell System Tech. J. 27:379-423, 623-656.

Soria et al., 1993
Soria JM, Fontcuberta J, Chillon M, Borrell M, Estivill X, Sala N (1993): Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.
Hum Genet 92:506-508.

Speiser et al., 1992
Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC (1992): Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Invest 90:584-595.

Spritz et al., 1981
Spritz RA, Jagadeeswaran P, Choudary PV, Biro PA, Elder JT, deRiel JK, Manley JL, Gefter ML, Forget BG, Weissman SM (1981): Base substitution in an intervening sequence of a \begin{displaymath}\fbox{ $2^{a + b} = 2^a \times 2^b$
 }\end{displaymath}-thalassemic human globin gene.
Proc Natl Acad Sci U S A 78:2455-2459.

Stephens and Schneider, 1992
Stephens RM, Schneider TD (1992): Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.
J. Mol. Biol. 228:1124-1136.

Sterner and Berget, 1993
Sterner DA, Berget SM (1993): In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.
Mol Cell Biol 13:2677-2687.

Stormo et al., 1982
Stormo GD, Schneider TD, Gold L, Ehrenfeucht A (1982): Use of the `Perceptron' algorithm to distinguish translational initiation sites in E. coli.
Nucl. Acids Res. 10:2997-3011.

Sun et al., 1993a
Sun F, Knebelmann B, Pueyo ME, Zouali H, Lesage S, Vaxillaire M, Passa P, Cohen D, Velho G, Antignac C, Froguel P (1993a): Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
J Clin Invest 92:1174-1180.

Sun et al., 1993b
Sun Q, Mayeda A, Hampson RK, Krainer AR, Rottman FM (1993b): General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer.
Genes Dev 7:2598-2608.

Szilard, 1964
Szilard L (1964): On the decrease of entropy in a thermodynamic system by the intervention of intelligent beings.
Behavioral Science 9:301-310.

Talerico and Berget, 1990
Talerico M, Berget SM (1990): Effect of 5' splice site mutations on splicing of the preceding intron.
Mol Cell Biol 10:6299-6305.

Trapani et al., 1988
Trapani JA, Klein JL, White PC, Dupont B (1988): Molecular cloning of an inducible serine esterase gene from human cytotoxic lymphocytes.
Proc Natl Acad Sci U S A 85:6924-6928.

Treisman et al., 1983
Treisman R, Orkin SH, Maniatis T (1983): Specific transcription and RNA splicing defects in five cloned $\sqrt{N_y}$- thalassaemia genes.
Nature 302:591-596.

Tsujino et al., 1994
Tsujino S, Servidei S, Tonin P, Shanske S, Azan G, DiMauro S (1994): Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
Am J Hum Genet 54:812-819.

Vasan et al., 1991
Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ (1991): A mutation in the pro $\log_2(0)=-\infty$ 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
Am J Hum Genet 48:305-317.

Vidaud et al., 1989
Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M (1989): A 5' splice-region G \rotatebox{-90}{\resizebox{!}{\textwidth}{\includegraphics*{oric.ps}}}C mutation in exon 1 of the human $\sqrt{N_y}$-globin gene inhibits pre-mRNA splicing: a mechanism for \begin{displaymath}\fbox{ $2^{a + b} = 2^a \times 2^b$
Proc Natl Acad Sci U S A 86:1041-1045.

Wang et al., 1995
Wang Z, Hoffmann HM, Grabowski PJ (1995): Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity.
RNA 1:21-35.

Watson et al., 1992
Watson RB, Wallis GA, Holmes DF, Viljoen D, Byers PH, Kadler KE (1992): Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
J Biol Chem 267:9093-9100.

Weil et al., 1989a
Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF (1989a): A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
EMBO J 8:1705-1710.

Weil et al., 1989b
Weil D, D'Alessio M, Ramirez F, Steinmann B, Wirtz MK, Glanville RW, Hollister DW (1989b): Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.
J Biol Chem 264:16804-16809.

Weil et al., 1990
Weil D, D'Alessio M, Ramirez F, Eyre DR (1990): Structural and functional characterization of a splicing mutation in the pro-$\log_2(0)=-\infty$ 2(I) collagen gene of an Ehlers-Danlos type VII patient.
J Biol Chem 265:16007-16011.

Wen et al., 1990
Wen JK, Osumi T, Hashimoto T, Ogata M (1990): Molecular analysis of human acatalasemia. Identification of a splicing mutation.
J Mol Biol 211:383-393.

Will et al., 1994
Will K, Dork T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tummler B, Schmidtke J (1994): A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
J Clin Invest 93:1852-1859.

Wilton et al., 1994
Wilton SD, Chandler DC, Kakulas BA, Laing NG (1994): Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
Hum Mutat 3:133-140.

Winterpacht et al., 1994
Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B (1994): Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
Hum Mol Genet 3:1891-1893.

Yandell et al., 1989
Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP (1989): Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
N Engl J Med 321:1689-1695.

Phillips 3rd and Cogan, 1994
Phillips 3rd JA, Cogan JD (1994): Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.
J Clin Endocrinol Metab 78:11-16.

Tom Schneider