Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 12

Results: 65

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 12, p. 2225
Publication type:: Article

Subject Index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 12, p. 2215
Publication type:: Article

The gene for Darier's desease maps to chromosome 12q23–q24.1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2214

By:

Craddock, N.;
Dawson, E.;
Burge, S.;
Parfitt, L.;
Mant, R.;
Roberts, Q.;
Daniesl, J.;
Gill, M.;
McGuffin, P.;
Powell, J.;
Owen, M.

Publication type:

Article

A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2214

By:

Braun, A.;
Kofler, A.;
bichlmaier, R.;
Kammerer, S.;
Cleve, H.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 12, p. 2213
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 12, p. 2207
Publication type:: Article

PCR detection of 9 polymorphisms in the WT1 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2205

By:

Tadokoro, Keiko;
Oki, Noriko;
Sakai, Akira;
Fujii, Hanako;
Ohshima, Akira;
Nagafuchi, Shigeo;
Inoue, Tadashi;
Yamada, Masao

Publication type:

Article

Twenty different alleles at the locus D5S683 on 5q23–31.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2204

By:

Schönling, Jutta;
Spurr, Nigel K.;
Wirth, Brunhilde

Publication type:

Article

Dinucleotide repeat polymorphism in the 3′ non-coding region of the FLTI gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2204

By:

Han, Hye-Jung;
Fujiwara, Tsutomu;
Shin, Sadahito;
Nakamura, Yusuke

Publication type:

Article

Dinucleotide repeat polymorphism at the PI locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2203

By:

Worthington, J.;
Pearson, C.;
Julier, C.;
Bell, J.;
Comelis, F.B.

Publication type:

Article

CA-repeat polymorphism at the D22S430 locus adjacent to NF2.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2203

By:

Sainz, Jesús;
Nechiporuk, Alex;
Kim, Ung-Jin;
Simon, Melvin I.;
Pulst, Stefan M.

Publication type:

Article

A CA-repeat polymorphism near DXS418 (P122).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2202

By:

De Vosse, E.Van;
Booms, P.F.M.;
Vossen, R.H.A.M.;
Wapenaar, M.C.;
Ommen, G.J.B.Van;
Dunnen, J.T.Den

Publication type:

Article

Dinucleotide repeat polymorphism at the GLUDP2 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2202

By:

Goulielmos, G.;
Manifava, M.;
Moschonas, N.K.

Publication type:

Article

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2201

By:

Larget-Piet, D.;
Rozet, J.-M.;
Gerber, S.;
Dollfus, H.;
Munnich, A.;
Kaplan, J.

Publication type:

Article

A BstNI polymorphism at the BTK locus in Xq21.3 – Xq22.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2201

By:

Hagemann, T.;
Kwan, S.P.

Publication type:

Article

A 14 bp deletion polymorphism in the HLA-G gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2200

By:

Harrison, G.A.;
Humphrey, K.E.;
Jakobsen, I.B.;
Cooper, D.W.

Publication type:

Article

Dinucleotide repeat polymorphism at the locus D15S222.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2200

By:

Fougerousse, Francoise;
Pasturaud, Patricia;
Beckmann, Jacques S.

Publication type:

Article

Dinucleotide repeat at the D15S129 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2199

By:

Richard, Isabelle;
Bourg, Nathalie;
Beckmann, Jacques S.

Publication type:

Article

DXS997 localized to intron 48 of dystrophin.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2199

By:

Saad, Fawzy A.;
Busque, Céline;
Vitiello, L.;
Danieli, Gian A.

Publication type:

Article

G to A polymorphism in the CACNLG gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2198

By:

Dickers, Antonel;
Jedlicka, Anne E.;
Powers, Patricia A.;
Hogan, Kirk;
Gregg, Ronald G.;
Levitt, Roy C.

Publication type:

Article

An SspI polymorphism for the human DOPA decarboxylase (DDC) gene on chromosome 7p.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2198

By:

Wang, Zhewu;
Crowe, Raymond R.;
Marsh, J.Lawrence

Publication type:

Article

PCR detection of the TaqA RFLP at the DRD2 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2197

By:

Grandy, D.K.;
Zhang, Y.;
Civelli, O.

Publication type:

Article

Polymorphism in the human dopamine D4 receptor gene (DRD4) in Japanese detected by PCR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2197

By:

Inoue, Akira;
Ihara, Hiroshi;
Kon, Taizaburo;
Nakamura, Michiko;
Suzuki, Jiro;
Aoki, Tsugutoshi;
Hemmi, Hiromichi;
Shimatake, Hiroyuki

Publication type:

Article

Thirteen dinucleotide repeat polymorphisms on chromosome 6.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2196

By:

Orphanos, Vassilis;
McGown, Gail;
Boyle, John M.;
Santibanez-Koref, Mauro

Publication type:

Article

Four dinucleotide repeat polymorphisms at the D7S804 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2195

By:

Graeber, Manuel B.;
Muller, Ulrich;
Monaco, Anthony P.;
Weber, James L.

Publication type:

Article

A novel zinc finger mutation in a patient with Denys—Drash syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2193

By:

Baird, Paul N.;
Cowell, John.K.

Publication type:

Article

A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2191

By:

Strautnleks, Sandra;
Malcolm, Sue

Publication type:

Article

A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus — Merzbacher disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2187

By:

Kurosawa, Kenjl;
Iwakl, Akiko;
Miyake, Sho-ta;
Imaizuml, Kiyoshi;
Kuroki, Yoshikazu;
Fukumakl, Yasuyuki

Publication type:

Article

A large alteration in the human platelet glycoprotein Illa (integrin β3) gene associated with Glanzmann's thrombasthenia.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2183

By:

Djaffar, Isabelle;
Caen, Jacques P.;
Rosa, Jean-Philippe

Publication type:

Article

Heterozygous ‘null allele’ mutation in the human peripherin/RDS gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2181

By:

Meins, M.;
Grüning, G.;
Blankenagel, A.;
Krastel, H.;
Reck, B.;
Fuchs, S.;
Schwinger, E.;
Gal, A.

Publication type:

Article

A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIII (integrinβ3) Arg214 by Trp.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2179

By:

Djaffar, Isabelle;
Rosa, Jean-Philippe

Publication type:

Article

A novel glycine to glutamic acid substitution at position 343 in the α2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2175

By:

Rose, Nicola J.;
Mackay, Katrina;
Byers, Peter H.;
Daigleish, Raymond

Publication type:

Article

In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2173

By:

Meitinger, Thomas;
Golla, Astrid;
Dörner, Christa;
Deufel, Annette;
Aulehla-Scholz, Christa;
Böhm, Ingolf;
Reinhardt, Dietrich;
Deufel, Thomas

Publication type:

Article

Identification of a new splice site mutation (3849 +1G←A) in the intron 19 of the CFTR gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2171

By:

Grell, Ignaz;
Wagner, Klaus;
Rosenkranz, Walter

Publication type:

Article

A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2167

By:

Hofferbert, Sigrun;
Burfeind, Peter;
Hoyer-Fender, Sigrid;
Lange, Ricarda;
Haldl, Gerhard;
Engel, Wolfgang

Publication type:

Article

Human insulin-like growth factor type I and type II receptors are not imprinted.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2163

By:

Ogawa, Osamu;
McNoe, Leslie A.;
Eccles, Michael R.;
Morison, lan M.;
Reeve, Anthony E.

Publication type:

Article

A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2159

By:

Pérez-Casal, Margarita;
Daly, Martina;
Peake, an

Publication type:

Article

Rapid screening for Tp53 mutations by temperature gradient gel electrophoresis: a comparison with SSCP analysis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2155

By:

B.Scholz, Roswitha;
Mllde-Langosch, Karin;
Jung, Roman;
Schlechte, Horst;
Kabisch, Hartmut;
Wagener, Christoph;
Löning, Thomas

Publication type:

Article

Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2151

By:

Baroncini, C.;
Baldazzi, L.;
Pirazzoll, P.;
Marchetti, G.;
Capelll, M.;
Cacclari, E.;
Bernardl, F.

Publication type:

Article

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2147

By:

Rothnagel, Joseph A.;
Fisher, Monte P.;
Axtell, Shelli M.;
Pittelkow, Mark R.;
Anton-Lamprecht, Ingrun;
Huber, Marcel;
Hohl, Daniel;
Roop, Dennis R.

Publication type:

Article

Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2143

By:

Valentijn, Linda J.;
Baas, Frank;
Zorn, Ina;
Hensels, Gerard W.;
de Visser, Marianne;
Bolhuls, Peter A.

Publication type:

Article

Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2141

By:

Fonknechten, Nuria;
Bienvenu, Thierry;
Moriscot, Christine;
Beldjord, Cherif;
Kahn, Axel;
Figarella, Catherine;
Kaplan, Jean-Claude

Publication type:

Article

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2135

By:

Aoyama, T.;
Tynan, K.;
Dietz, H.C.;
Francke, U.;
Furthmayr, H.

Publication type:

Article

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2129

By:

Pook, Mark A.;
Wrong, Oliver;
Wooding, Carol;
Norden, Anthony G.W.;
Feest, Terry G.;
Thakker, Rajesh V.

Publication type:

Article

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2123

By:

Matilla, T.;
Volpinl, V.;
Genis, D.;
Rosell, J.;
Corral, J.;
Davalos, A.;
Molins, A.;
Estivill, X.

Publication type:

Article

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2117

By:

Barth, Maria Lulza;
Fensom, Anthony;
Harris, Ann

Publication type:

Article

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2109

By:

Shoulders, Carol C.;
Brett, David J.;
Bayllss, Jayne D.;
Narcisi, Teresa M.E.;
Jarmuz, Adam;
Grantham, Tamsin T.;
Leoni, Patricia R.D.;
Bhattacharya, Shoumo;
Pease, Richard J.;
Cullen, Paul M.;
Levi, Sassoon;
Byfield, Peter G.H.;
Purkiss, Paul;
Scott, James

Publication type:

Article

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2099

By:

Halford, Stephanle;
Wadey, Roy;
Roberts, Catherine;
Daw, Sara C.M.;
Whiting, Jennifer A.;
O'Donnell, Hllary;
Dunham, Ian;
Bentley, David;
Lindsay, Elizabeth;
BaldInI, Antonio;
Francis, Fiona;
Lehrach, Hans;
Williamson, Robert;
Wilson, David I.;
Goodship, Judith;
Cross, Ian;
Burn, John;
Scambler, Peter J.

Publication type:

Article

Mutations in the PAX6 gene in patients with hereditary aniridia.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2093

By:

Davis, Alison;
K.Cowell, John

Publication type:

Article

The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2089

By:

Howard, Tammy K.;
Algar, Elizabeth M.;
Glatz, Jane A.;
Reeve, Anthony E.;
Smith, Peter J.

Publication type:

Article