Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 12

Results: 36

Erratum.
Published in:
1998
Publication type:
Correction Notice
Chromatin Conformation of the H19 Epigenetic Mark.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1979, doi. 10.1093/hmg/7.12.1979
By:
- Hark, Amy T.;
- Tilghman, Shirley M.
Publication type:
Article
Genome-Wide Mapping of Unselected Transcripts From Extraembryonic Tissue of 7.5-Day Mouse Embryos Reveals Enrichment in the t-Complex and Under-Representation on the X Chromosome.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1967
By:
- Ko, Minoru S. H.;
- Threat, Tracy A.;
- Wang, Xueqian;
- Horton, Joseph H.;
- Cui, Yushun;
- Wang, Xiaohong;
- Pryor, Eric;
- Paris, Jason;
- Wells-Smith, Jeannine;
- Kitchen, John R.;
- Rowe, Lucy B.;
- Eppig, Janan;
- Satoh, Toshihiko;
- Brant, Larry;
- Fujiwara, Hiroyuki;
- Yotsumoto, Shinichi;
- Nakashima, Hiroshi
Publication type:
Article
Localization of Myotonic Dystrophy Protein Kinase in Human and Rabbit Tissues using a new Panel of Monoclonal Antibodies.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1957, doi. 10.1093/hmg/7.12.1957
By:
- Pham, Y. C. N.;
- thi Man, Nguyen;
- Thanh Lam, Le;
- Morris, G. E.
Publication type:
Article
Genetic Association of an (α2-Macroglobulin (Val1000lle) Polymorphism and Alzheimer's Disease.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1953, doi. 10.1093/hmg/7.12.1953
By:
- Liao, A.;
- Nitsch, R. M.;
- Greenberg, S. M.;
- Finckh, U.;
- Blacker, D.;
- Albert, M.;
- Rebeck, G. W.;
- Gomez-Isla, T.;
- Clatworthy, A.;
- Binetti, G.;
- Hock, C.;
- Mueller-Thomsen, T.;
- Mann, U.;
- Zuchowski, K.;
- Beisiegel, U.;
- Staehelin, H.;
- Growdon, J. H.;
- Tanzi, R. E.;
- Hyman, B. T.
Publication type:
Article
The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1947, doi. 10.1093/hmg/7.12.1947
By:
- Winokur, Sara T.;
- Shiang, Rita
Publication type:
Article
Mutations in DPC4 (SMAD4) Cause Juvenile Polyposis Syndrome, But Only Account for a Minority of Cases.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1907, doi. 10.1093/hmg/7.12.1907
By:
- Houlston, Richard;
- Bevan, Stephen;
- Williams, Andrew;
- Young, Joanne;
- Dunlop, Malcolm;
- Rozen, Paul;
- Eng, Charis;
- Markie, David;
- Woodford-Richens, Kelly;
- Rodriguez-Bigas, Miguel A.;
- Leggett, Barbara;
- Neale, Kay;
- Phillips, Robin;
- Sheridan, Eamon;
- Hodgson, Shirley;
- Iwama, Takeo;
- Eccles, Diana;
- Bodmer, Walter;
- Tomlinson, Ian
Publication type:
Article
The Distribution of SMN Protein Complex in Human Fetal Tissues and Its Alteration in Spinal Muscular Atrophy.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1927, doi. 10.1093/hmg/7.12.1927
By:
- Burlet, P.;
- Huber, C.;
- Bertrandy, S.;
- Ludosky, M. A.;
- Zwaenepoel, I.;
- Clermont, O.;
- Roume, J.;
- Delezoide, A. L.;
- Cartaud, J.;
- Munnich, A.;
- Lefebvre, S.
Publication type:
Article
Parental Gender, Age at Birth and Expansion Length Influence GAA Repeat Intergenerational Instability in the X25 Gene: Pedigree Studies and Analysis of Sperm from Patients with Friedreich's Ataxia.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1901, doi. 10.1093/hmg/7.12.1901
By:
- De Michele, Giuseppe;
- Cavalcanti, Francesca;
- Criscuolo, Chiara;
- Pianese, Luigi;
- Monticelli, Antonella;
- Filla, Alessandro;
- Cocozza, Sergio
Publication type:
Article
Targeted replacement of normal and mutant CFTR sequences in human airway epithelial cells using DNA fragments.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1913, doi. 10.1093/hmg/7.12.1913
By:
- Goncz, Kaarin K.;
- Kunzelmann, Karl;
- Xu, Zhidong;
- Gruenert, Dieter C.
Publication type:
Article
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1947, doi. 10.1093/hmg/7.12.1947
By:
- Winokur, Sara T.;
- Shiang, Rita
Publication type:
Article
Re-Examination of Factors Associated with Expansion of CGG Repeats Using a Single Nucleotide Polymorphism in FMR1.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1935, doi. 10.1093/hmg/7.12.1935
By:
- Gunter, Chris;
- Paradee, William;
- Crawford, Dana C.;
- Meadows, Kellen A.;
- Newman, James;
- Kunst, Catherine B.;
- Nelson, David L.;
- Schwartz, Charles;
- Murray, Anna;
- Macpherson, James N.;
- Sherman, Stephanie L.;
- Warren, Stephen T.
Publication type:
Article
Targeted Replacement of Normal and Mutant CFTR Sequences in Human Airway Epithelial Cells Using DNA Fragments.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1913, doi. 10.1093/hmg/7.12.1913
By:
- Goncz, Kaarin K.;
- Kunzelmann, Karl;
- Xu, Zhidong;
- Gruenert, Dieter C.
Publication type:
Article
Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
By:
- Craig, Holly D.;
- Günel, Murat;
- Cepeda, Obed;
- Johnson, Eric W.;
- Ptacek, Louis;
- Steinberg, Gary K.;
- Ogilvy, Christopher S.;
- Berg, Michael J.;
- Crawford, Stephen C.;
- Scott, R. Michael;
- Steichen‐Gersdorf, Elizabeth;
- Sabroe, Ruth;
- Kennedy, C. T. C.;
- Mettler, Gabrielle;
- Beis, M. Jill;
- Fryer, Alan;
- Awad, Issam A.;
- Lifton, Richard P.
Publication type:
Article
Risk for Alzheimer's Disease Correlates with Transcriptional Activity of the APOE Gene.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1887, doi. 10.1093/hmg/7.12.1887
By:
- Artiga, M. J.;
- Bullido, M. J.;
- Frank, A.;
- Sastre, I.;
- Recuero, M.;
- García, M. A.;
- Lendon, C. L.;
- Han, S. W.;
- Morris, J. C.;
- Vázquez, J.;
- Goate, A.;
- Valdivieso, F.
Publication type:
Article
Encapsidated Adenovirus Mini-Chromosome-Mediated Delivery of Genes to the Retina: Application to the Rescue of Photoreceptor Degeneration.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1893, doi. 10.1093/hmg/7.12.1893
By:
- Kumar-Singh, Rajendra;
- Farber, Debora B.
Publication type:
Article
Analysis of the Human GDNF Gene Reveals an Inducible Promoter, Three Exons, a Triplet Repeat Within the 3′-UTR and Alternative Splice Products.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1873, doi. 10.1093/hmg/7.12.1873
By:
- Grimm, Lena;
- Holinski-Feder, Elke;
- Teodoridis, Jens;
- Scheffer, Beatrix;
- Schindelhauer, Dirk;
- Meitinger, Thomas;
- Ueffing, Marius
Publication type:
Article
Novel Immunogenic Antigen Homologous to Hyaluronidase in Meningioma.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1859, doi. 10.1093/hmg/7.12.1859
By:
- Heckel, Dirk;
- Comtesse, Nicole;
- Brass, Nicole;
- Blin, Nikolaus;
- Zang, Klaus D.;
- Meese, Eckart
Publication type:
Article
Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
By:
- Craig, Holly D.;
- Günel, Murat;
- Cepeda, Obed;
- Johnson, Eric W.;
- Ptacek, Louis;
- Steinberg, Gary K.;
- Ogilvy, Christopher S.;
- Berg, Michael J.;
- Crawford, Stephen C.;
- Scott, R. Michael;
- Steichen-Gersdorf, Elizabeth;
- Sabroe, Ruth;
- Kennedy, C. T. C.;
- Mettler, Gabrielle;
- Beis, M. Jill;
- Fryer, Alan;
- Awad, Issam A.;
- Lifton, Richard P.
Publication type:
Article
Goosecoid-like (GSCL), a Candidate Gene for Velocardiofacial Syndrome, Is Not Essential for Normal Mouse Development.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1841, doi. 10.1093/hmg/7.12.1841
By:
- Saint-Jore, Bruno;
- Puech, Anne;
- Heyer, Jörg;
- Lin, Qingcong;
- Raine, Cedric;
- Kucherlapati, Raju;
- Skoultchi, Arthur I.
Publication type:
Article
Functional Analysis of Gscl in the Pathogenesis of the DiGeorge and Velocardiofacial Syndromes.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1835, doi. 10.1093/hmg/7.12.1835
By:
- Wakamiya, Maki;
- Lindsay, Elizabeth A.;
- Rivera-Pérez, Jaime A.;
- Baldini, Antonio;
- Behringer, Richard R.
Publication type:
Article
Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1835, doi. 10.1093/hmg/7.12.1835
By:
- Wakamiya, Maki;
- Lindsay, Elizabeth A.;
- Rivera‐Pérez, Jaime A.;
- Baldini, Antonio;
- Behringer, Richard R.
Publication type:
Article
Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1887, doi. 10.1093/hmg/7.12.1887
By:
- Artiga, M. J.;
- Bullido, M. J.;
- Frank, A.;
- Sastre, I.;
- Recuero, M.;
- García, M. A.;
- Lendon, C. L.;
- Han, S. W.;
- Morris, J. C.;
- Vázquez, J.;
- Goate, A.;
- Valdivieso, F.
Publication type:
Article
Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1893
By:
- Kumar‐Singh, Rajendra;
- Farber, Debora B.
Publication type:
Article
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1907, doi. 10.1093/hmg/7.12.1907
By:
- Houlston, Richard;
- Bevan, Stephen;
- Williams, Andrew;
- Young, Joanne;
- Dunlop, Malcolm;
- Rozen, Paul;
- Eng, Charis;
- Markie, David;
- Woodford‐Richens, Kelly;
- Rodriguez‐Bigas, Miguel A.;
- Leggett, Barbara;
- Neale, Kay;
- Phillips, Robin;
- Sheridan, Eamon;
- Hodgson, Shirley;
- Iwama, Takeo;
- Eccles, Diana;
- Bodmer, Walter;
- Tomlinson, Ian
Publication type:
Article
Novel immunogenic antigen homologous to hyaluronidase in meningioma.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1859, doi. 10.1093/hmg/7.12.1859
By:
- Heckel, Dirk;
- Comtesse, Nicole;
- Brass, Nicole;
- Blin, Nikolaus;
- Zang, Klaus D.;
- Meese, Eckart
Publication type:
Article
Genetic association of an α2-macroglobulin (Val1000Ile) polymorphism and Alzheimer's disease.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1953, doi. 10.1093/hmg/7.12.1953
By:
- Liao, A.;
- Nitsch, R. M.;
- Greenberg, S. M.;
- Finckh, U.;
- Blacker, D.;
- Albert, M.;
- Rebeck, G. W.;
- Gomez‐Isla, T.;
- Clatworthy, A.;
- Binetti, G.;
- Hock, C.;
- Mueller‐Thomsen, T.;
- Mann, U.;
- Zuchowski, K.;
- Beisiegel, U.;
- Staehelin, H.;
- Growdon, J. H.;
- Tanzi, R. E.;
- Hyman, B. T.
Publication type:
Article
Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1957, doi. 10.1093/hmg/7.12.1957
By:
- Pham, Y. C. N.;
- Man, Nguyen thi;
- Lam, Le Thanh;
- Morris, G. E.
Publication type:
Article
Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3′-UTR and alternative splice products.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1873, doi. 10.1093/hmg/7.12.1873
By:
- Grimm, Lena;
- Holinski‐Feder, Elke;
- Teodoridis, Jens;
- Scheffer, Beatrix;
- Schindelhauer, Dirk;
- Meitinger, Thomas;
- Ueffing, Marius
Publication type:
Article
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1927, doi. 10.1093/hmg/7.12.1927
By:
- Burlet, P.;
- Huber, C.;
- Bertrandy, S.;
- Ludosky, M. A.;
- Zwaenepoel, I.;
- Clermont, O.;
- Roume, J.;
- Delezoide, A. L.;
- Cartaud, J.;
- Munnich, A.;
- Lefebvre, S.
Publication type:
Article
Goosecoid-like ( Gscl ), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1841
By:
- Saint‐Jore, Bruno;
- Puech, Anne;
- Heyer, Jörg;
- Lin, Qingcong;
- Raine, Cedric;
- Kucherlapati, Raju;
- Skoultchi, Arthur I.
Publication type:
Article
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1901, doi. 10.1093/hmg/7.12.1901
By:
- De Michele, Giuseppe;
- Cavalcanti, Francesca;
- Criscuolo, Chiara;
- Pianese, Luigi;
- Monticelli, Antonella;
- Filla, Alessandro;
- Cocozza, Sergio
Publication type:
Article
Chromatin conformation of the H19 epigenetic mark.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1979, doi. 10.1093/hmg/7.12.1979
By:
- Hark, Amy T.;
- Tilghman, Shirley M.
Publication type:
Article
Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t -complex and under-representation on the X chromosome.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1967
By:
- Ko, Minoru S. H.;
- Threat, Tracy A.;
- Wang, Xueqian;
- Horton, Joseph H.;
- Cui, Yushun;
- Wang, Xiaohong;
- Pryor, Eric;
- Paris, Jason;
- Wells‐Smith, Jeannine;
- Kitchen, John R.;
- Rowe, Lucy B.;
- Eppig, Janan;
- Satoh, Toshihiko;
- Brant, Larry;
- Fujiwara, Hiroyuki;
- Yotsumoto, Shinichi;
- Nakashima, Hiroshi
Publication type:
Article
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1935, doi. 10.1093/hmg/7.12.1935
By:
- Gunter, Chris;
- Paradee, William;
- Crawford, Dana C.;
- Meadows, Kellen A.;
- Newman, James;
- Kunst, Catherine B.;
- Nelson, David L.;
- Schwartz, Charles;
- Murray, Anna;
- Macpherson, James N.;
- Sherman, Stephanie L.;
- Warren, Stephen T.
Publication type:
Article
Molecular characterization of homozygous variegate porphyria.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1921, doi. 10.1093/hmg/7.12.1921
By:
- Roberts, Andrew G.;
- Puy, Hervé;
- Dailey, Tamara A.;
- Morgan, Rhian R.;
- Whatley, Sharon D.;
- Dailey, Harry A.;
- Martasek, Pavel;
- Nordmann, Yves;
- Deybach, Jean‐Charles;
- Elder, George H.
Publication type:
Article