Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments (English)
- New search for: Bernards, Andre
- New search for: Snijders, Allard J.
- New search for: Hannigan, Gregory E.
- New search for: Murthy, Anita E.
- New search for: Gusella, James F.
- New search for: Bernards, Andre
- New search for: Snijders, Allard J.
- New search for: Hannigan, Gregory E.
- New search for: Murthy, Anita E.
- New search for: Gusella, James F.
In:
Human molecular genetics
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2
, 6
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645-
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1993
- Article (Journal) / Electronic Resource
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Title:Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments
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Contributors:Bernards, Andre ( author ) / Snijders, Allard J. ( author ) / Hannigan, Gregory E. ( author ) / Murthy, Anita E. ( author ) / Gusella, James F. ( author )
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Published in:Human molecular genetics ; 2, 6 ; 645-
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Publisher:
- New search for: Oxford University Press
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Publication date:1993-06-01
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 2, Issue 6
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 633
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A simple non-radioactive method for diagnosis of Huntington's diseaseValdes, John M. / Tagle, Danilo A. / Elmer, Lawrence W. / Collins, Francis S. et al. | 1993
- 635
-
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington diseaseGoldberg, Y.Paul / Andrew, Susan E. / Clarke, Lorne A. / Hayden, Michael R. et al. | 1993
- 637
-
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's diseaseRiess, Olaf / Noerremoelle, Anne / Soerensen, Sven Asger / Epplen, Jorg T. et al. | 1993
- 639
-
Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNARidanpää, Maaret / Husgafvel-Pursiainen, Kirsti et al. | 1993
- 645
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Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segmentsBernards, Andre / Snijders, Allard J. / Hannigan, Gregory E. / Murthy, Anita E. / Gusella, James F. et al. | 1993
- 651
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Fine mapping of the human SCIDX1 locus at Xq12-13.1Markiewicz, Sophie / DiSanto, James P. / Chelly, Jamel / Fairweather, NIicolas / Le Marec, Bernard / Griscelli, Claude / Graeber, Manuel B. / Muller, Ulrich / Fischer, Alain / Monaco, Anthony P. et al. | 1993
- 655
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Cloning and analysis of the murine Fanconi anemia group C cDNAWevrick, Rachel / Clarke, Carol A. / Buchwald, Manuel et al. | 1993
- 663
-
Evolutionary conservation of possible functional domains of the human and murine XIST genesHendrich, Brian D. / Brown, Carolyn J. / Willard, Huntington F. et al. | 1993
- 673
-
A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteinsDuyao, Mabel P. / Taylor, Sherryl A.M. / Buckler, Alan J. / Ambrose, Christine M. / Lin, Carol / Groot, Nicolet / Church, Deanna / Barnes, Glenn / Wasmuth, John J. / Housman, David E. et al. | 1993
- 677
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Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletionMorral, Núria / Nunes, Virginia / Casals, Teresa / Cobos, Nicolás / Asensio, Oscar / Dapena, Javier / Estivill, Xavier et al. | 1993
- 683
-
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G->T and 711 +1G->T mutationsZielenski, Julian / Bozon, Dominique / Markiewicz, Danuta / Aubin, Gervais / Simard, Fernand / Rommens, Johanna M. / Tsui, Lap-Chee et al. | 1993
- 689
-
Abnormal mRNA splicing resulting from three different mutations in the CFTR geneHull, Jeremy / Shackleton, Sue / Harris, Ann et al. | 1993
- 693
-
The effect of Robertsonian translocation on recombination on chromosome 21Wolff, Daynna J. / Schwartz, Stuart et al. | 1993
- 701
-
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locusWatson, Carolyn J. / Gaunt, Lorraine / Evans, Gareth / Patel, Ketan / Harris, Rodney / Strachan, Tom et al. | 1993
- 705
-
Intergenerational stability of the myotonic dystrophy protomutationBarceló, Juana M. / Mahadevan, Mani S. / Tsilfidis, Catherine / MacKenzie, Alex E. / Korneluk, Robert G. et al. | 1993
- 711
-
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sistersCobo, A. / Martinez, J.M. / Martorell, L. / Baiget, M. / Johnson, K. et al. | 1993
- 717
-
Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivoDunckley, Matthew G. / Wells, Dominic J. / Walsh, Frank S. / Dickson, George et al. | 1993
- 725
-
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) geneLázaro, Conxi / Gaona, Antonia / Ravella, Anna / Volpini, Victor / Casals, Teresa / Fuentes, Juan-José / Estivill, Xavier et al. | 1993
- 731
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An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndromeJeanpierre, M. / Turleau, C. / Aurias, A. / Prieur, M. / Ledeist, F. / Fischer, A. / Viegas-Pequignot, E. et al. | 1993
- 737
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Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophyWinnard, Alissa V. / Klein, Christopher J. / Coovert, Daniel D. / Prior, Thomas / Papp, Audrey / Snyder, Pamela / Bulman, Dennis E. / Ray, Peter N. / McAndrew, Patricia / King, Wendy et al. | 1993
- 745
-
The cloning and expression of a sodium channel {beta}1-subunit cDNA from human brainMcClatchey, Andrea I. / Cannon, Stephen C. / Slaugenhaupt, Susan A. / Gusella, James F. et al. | 1993
- 751
-
Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 regionScherer, Stephen W. / Rommens, Johanna M. / Soder, Sylvia / Wong, Ed / Plavsic, Natasa / Tompkins, Brock J.F. / Beattie, Aaron / Kim, Julia / Tsui, Lap-Chee et al. | 1993
- 761
-
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7Maestrini, E. / Patrosso, C. / Mancini, M. / Rivella, S. / Rocchi, M. / Repetto, M. / Villa, A. / Frattini, A. / Zoppè, M. / Vezzoni, P. et al. | 1993
- 767
-
A hypervariable segment in the human dopamine receptor D4 (DRD4) geneLichter, Jay B. / Barr, Cathy L. / Kennedy, James L. / Van Tol, Hubert H.M. / Kidd, Kenneth K. / Livak, Kenneth J. et al. | 1993
- 775
-
A methylated CpG island 3' in the apolipoprotein-E gene does not repress its transcriptionLarsen, Frank / Solheim, Jorun / Prydz, Hans et al. | 1993
- 781
-
1448C mutation linked to the Pv1. 1- genotype in Italian patients with Gaucher diseaseTuteja, Renu / Bembi, Bruno / Agosti, Eriberto / Baralle, Francisco E. et al. | 1993
- 785
-
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domainAffara, Nabeel A. / Chalmers, I.Jennifer / Ferguson-Smith, Malcolm A. et al. | 1993
- 791
-
YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 regionPengue, Gina / Calabrò, Viola / Cannada-Bartoli, Paola / De Luca, Pasquale / Esposito, Teresa / Taillon-Miller, Patricia / LaForgia, Sal / Druck, Teresa / Huebner, Kay / D'Urso, Michele et al. | 1993
- 797
-
A nonsense mutation and exon skipping in the Fanconi anaemia group C geneGibson, Rachel A. / Hajianpour, Atieh / Murer-Orlando, Manuela / Buchwald, Manuel / Mathew, Christopher G. et al. | 1993
- 801
-
Testis-Specific, alternative splicing of rodent CFTR mRNATrezsie, Ann E.O. / Buchwald, Manuel / Higgins, Christopher F. et al. | 1993
- 803
-
Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomasBecker, Karl-F. / Atkinson, Michael J. / Reich, Ulrike / Huang, Hsuan-H. / Nekarda, Hjalmar / Siewert, Jörg R. / Hofler, Heinz et al. | 1993
- 805
-
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1{alpha} subunitHansen, L.L. / Brown, G.K. / Brown, R.M. / Dahl, H.H.M. et al. | 1993
- 809
-
A comprehensive CFTR mutation analysis of German cystic fibrosis patientsReiss, Jochen / Ellermeyer, Ute / Rininsland, Frauke / Ballhausen, Pia / Lenz, Ulrike / Wagner, Silke / Schlösser, Manfred et al. | 1993
- 813
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Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsinKranich, Holger / Bartkowski, Sigrid / Denton, Michael J. / Krey, Sonja / Dickinson, Pamela / Duvigneau, Christine / Gal, Andreas et al. | 1993
- 815
-
Molecular defect in a patient with pyridoxine-responsive homocystinuriaKozich, Viktor / de Franchis, Raffaella / Kraus, Jan P. et al. | 1993
- 817
-
Six dinucleotide microsatellite polymorphisms on human chromosome 3Schmidt, Laura / Li, Hua / Wei, Ming-Hui / Lerman, Michael I. / Zbar, Berton / Tory, Kalman et al. | 1993
- 819
-
Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351Li, Hua / Schmidt, Laura / Wei, Ming-Hui / Hustad, Thomas / Lerman, Michael I. / Zbar, Berton / Tory, Kalman et al. | 1993
- 820
-
Unusual length polymorphism in human steroid 5{alpha}-reductase type 2 gene (SRD5A2)Davis, Daphne L. / Russell, David W. et al. | 1993
- 820a
-
TaqI RFLP at norepinephrine transporter protein (NET) locusGelernter, J / Kruger, S / Kidd, KK / Amara, S et al. | 1993
- 820-a
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Taql RFLP at norepinephrine transporter protein (NET) locusGelernter, Joel / Kruger, Susan / Kidd, Kenneth K. / Amara, Susan et al. | 1993
- 821
-
Two independent polymorphisms at the 17{beta}-hydroxysteroid dehydrogenase (EDH17B) gene (17q21)Friedman, Lori S. / Lynch, Eric D. / King, Mary-Claire et al. | 1993
- 821-a
-
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)Roux, Anne-Françoise / Yuan, Chu Chin / Rommens, Johanna M. / Musarella, Maria A. et al. | 1993
- 822
-
A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1Pandolfo, M. / Munaro, M. / Cacozza, S. / Redolfi, E.M. / Pianese, L. / Cavalcanti, F. / Monticelli, A. / Donato, S.Di et al. | 1993
- 822-a
-
Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR)Dahl, S.Pieke / Weston, M.D. / Overbeck, L.D. / Evans, K.L. / Porteous, D.J. / Kimberling, W.J. et al. | 1993
- 823
-
Taql and Rsal polymorphisms in the H19 gene (D11S813E)Redeker, E. / Van Moorsel, C.J.A. / Feinberg, A. / Mannens, M. et al. | 1993
- 823-a
-
Dinucleotide repeat polymorphism at the D9S126 locus (9p21)Fountain, Jane W. / Hudson, Thomas J. / Engelstein, Marcy / Housman, David E. / Dracopoli, Nicholas C. et al. | 1993
- 823a
-
TaqI and RsaI polymorphisms in the H19 gene (D11S813E)Redeker, E / Van Moorsel, CJ / Feinberg, A / Mannens, M et al. | 1993
- 824
-
Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35Fujimori, Minoru / White, Peter S. / Marshall, Helen N. / Brodeur, Garrett M. et al. | 1993
- 824-a
-
A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36.2Kaufman, Bruce A. / White, Peter S. / Brodeur, Garrett et al. | 1993
- 825
-
A Scal RFLP at the E-selectin (SELE) locus in a progeria familyWarnecke, Peter / Weiss, Anthony S. et al. | 1993
- 825a
-
A ScaI RFLP at the E-selectin (SELE) locus in a progeria familyWarnecke, P / Weiss, AS et al. | 1993
- 825-a
-
D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13Krebs, Christopher J. / Horton, Joseph H. / Mullins, Chadwick M. / Paradee, William J. / Taggart, R.Thomas et al. | 1993
- 826
-
Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH)Whitcombe, D.M. / Cox, T.M. et al. | 1993
- 826-a
-
Taql polymorphism in the human thyrotropin receptor gene (TSHR)Luo, W. / Nagayama, Y. / Yokoyama, N. / Nagataki, S. et al. | 1993
- 826a
-
TaqI polymorphism in the human thyrotropin receptor gene (TSHR)Luo, W / Nagayama, Y / Yokoyama, N / Nagataki, S et al. | 1993
- 827
-
(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3Weber, Bernhard / Riess, Olaf / Daneshvar, Hossein / Graham, Rona / Hayden, Michael R. et al. | 1993
- 827a
-
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) genePerez-Jurado, LA / Francke, U et al. | 1993
- 828
-
A polymorphic dinucleotide repeat at the D8S339 locusThomas, Winston / Drayna, Dennis et al. | 1993
- 828a
-
Dinucleotide repeat polymorphism in the human CD40 ligand geneAllen, RC / Spriggs, MK / Belmont, JW et al. | 1993
- 829
-
Trinucleotide repeat polymorphism at the D5S373 locusDixon, Jill / Dixon, Michael J. et al. | 1993
- 829-a
-
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locusVelonà, I. / Zappata, S. / Tops, C.M.J. / Fodde, R. / Khan, P.Meera / Neri, G. / Brahe, C. et al. | 1993
- 831
-
New human DNA polymorphisms submitted to the genome data base| 1993
- 845
-
Author index| 1993