Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 10

Results: 49

Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1916

By:

Lau, C.C.;
Mok, S.C.;
Kelley, A.;
Cramer, D.

Publication type:

Article

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1899

By:

Zhu, Qili;
Zhang, Min;
Winkelstein, Jerry;
Chen, Shi-Han;
Ochs, Hans D.

Publication type:

Article

RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1895

By:

Blaugrund, James E.;
Johns, Michael M.;
Eby, Yolanda J.;
Ball, Douglas W.;
Baylin, Stephen B.;
Hruban, Ralph H.;
Sidransky, David

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 10, p. 1917
Publication type:: Article

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1891

By:

Winterpacht, Andreas;
Schwarze, Ulrike;
Mundlos, Stefan;
Menger, Hartmut;
Spranger, Jürgen;
Zabel, Bernhard

Publication type:

Article

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1918

By:

Stella, A.;
Montera, M.;
Resta, N.;
Marchese, C.;
Susca, F.;
Gentile, M.;
Romio, L.;
Pilia, S.;
Prete, F.;
Mareni, C.;
Guanti, G.

Publication type:

Article

Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1915

By:

Jordan, S.A.;
Humphries, P.

Publication type:

Article

Polymorphism of the HLA-90 new class I gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1916

By:

Legras, C.;
Alizadeh, M.;
Fauchet, R.;
Genetet, B.;
Semana, G.

Publication type:

Article

GA repeat polymorphism at the PRM2 male fertility locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1915

By:

Jonckheere, J. De;
Nelson, J.E.;
Ginsburg, K.A.;
Martin, L.;
Krawetz, S.A.

Publication type:

Article

A Bg/II polymorphism in the COL4A6 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1914

By:

Renieri, A.;
Galli, L.;
Zhou, J.;
Ballabio, A.;
Marchi, M. De

Publication type:

Article

Dinucleotide repeat polymorphism at the NF2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1914

By:

Bourn, D.;
Strachan, T.

Publication type:

Article

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1912

By:

Gabriel, J.;
Gottlieb, W.;
Garcia, A.;
Rogan, P.K.;
Saitoh, S.;
Nicholls, R.D.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S492 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1913

By:

Ward, K.;
Nelson, L.;
Lu, J.;
Petterson, M.;
Fillmore, K.;
Riley, R.

Publication type:

Article

The same polymorphism identified by the DXS571(B) and DXS1105 loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1913

By:

Barker, D.F.;
Cordray, P.;
Fain, P.R.

Publication type:

Article

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1909

By:

Baudoin, Christian;
Miquel, Corinne;
Gagnoux-Palacios, Laurent;
Pulkkinen, Leena;
Christiano, Angela M.;
Uitto, Jouni;
Tadini, Gianluca;
Ortonne, Jean-Paul;
Meneguzzl, Guerrino

Publication type:

Article

Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1911

By:

Jones, M.H.;
Sato, T.;
Saito, H.;
Tanigami, A.;
Nakamura, Y.

Publication type:

Article

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1903

By:

Fuchs, Sigrid;
Sarde, Claude Olivier;
Wedemann, Heike;
Schwinger, Eberhard;
Mandel, Jean Louis;
Gal, Andreas

Publication type:

Article

Novel small mutations along the DMD/BMD gene associated with different phenotypes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1907

By:

Nigro, Vincenzo;
Nigro, Giovanni;
Esposito, Maria Grazia;
Comi, Lucia Ines;
Molinari, Anna Maria;
Puca, Giovanni Alfredo;
Politano, Luisa

Publication type:

Article

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1901

By:

Richards, Allan J.;
Narcisi, Paolo;
Ferguson, Carole;
Cobben, Jan M.;
Pope, F.Michael

Publication type:

Article

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1867

By:

Hentati, Afif;
Pericak-Vance, Margaret A.;
Lennon, Felicia;
Wasserman, Brad;
Hentati, Faycal;
Juneja, Tony;
Angrist, Misha H.;
Hung, Wu-Yen;
Boustany, Rose-Mary;
Bohlega, Saeed;
Iqbal, Zafar;
Huether, Carl H.;
Hamida, Mongi Ben;
Siddique, Teepu

Publication type:

Article

A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1887

By:

Balassopoulou, Angeliki;
Papadakis, Manos;
Loukopoulos, Dimitris

Publication type:

Article

Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1883

By:

Marble, Michael;
Geraghty, Michael T.;
de Franchis, Raffaella;
Kraus, Jan P.;
Vailed, David

Publication type:

Article

Identification of a novel paternally expressed gene in the Prader - Willi syndrome region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1877

By:

Wevrick, Rachel;
Kerns, Julie A.;
Francke, Uta

Publication type:

Article

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1873

By:

Carey, Adam H.;
Waterworth, Dawn;
Patel, Kirty;
White, Davinia;
Little, Julie;
Novelli, Patricia;
Franks, Stephen;
Williamson, Robert

Publication type:

Article

Identification of a new frameshift mutation (1801delAG) in the ALD gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1889

By:

Barceló, A.;
Girós, M.;
Sarde, C.O.;
Martínez-Bermejo, A.;
Mandel, J.L.;
Pámpols, T.;
Estivill, X.

Publication type:

Article

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1829

By:

Carbonara, Caterina;
Longa, Lucia;
Grosso, Enrico;
Borrone, Carla;
Garré, Maria Grazia;
Brisigotti, Massimo;
Migone, Nicola

Publication type:

Article

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1859

By:

Vincent, Christophe;
Kalatzis, Vasiliki;
Compain, Sylvie;
Levilliers, Jacqueline;
Slim, Rima;
Graia, Fatima;
Pereira, Maria de Lurdes;
Nivelon, Annie;
Croquette, Marie-France;
Lacombe, Didier;
Vigneron, Jacqueline;
Helias, Jocelyne;
Broyer, Michel;
Callen, David F.;
Haan, Eric A.;
Weissenbach, Jean;
Lacroix, Bruno;
Bellané-Chantelot, Christine;
Paslier, Denis Le;
Cohen, Daniel

Publication type:

Article

Sequence organization of the human chromosome 2q telomere.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1847

By:

Macina, Roberto A.;
Negorev, Dmitri G.;
Spais, Chrysanthe;
Ruthig, Lisa A.;
Hu, Xue-Lan;
Riethman, Harold C.

Publication type:

Article

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1841

By:

Ueki, Keisuke;
Rubio, Mari-Paz;
Ramesh, Vijaya;
Correa, Katia M.;
Rutter, Joni L.;
Deimling, Andreas von;
Buckler, Alan J.;
Gusella, James F.;
Louis, David N.

Publication type:

Article

Identification of two mutant alleles of transcobalamin II in an affected family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1835

By:

Li, Ning;
Rosenblatt, David S.;
Kamen, Barton A.;
Seetharam, Shakuntla;
Seetharam, Bellur

Publication type:

Article

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1833

By:

Green, Andrew J.;
Johnson, Philip H.;
Yates, John R.W.

Publication type:

Article

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1855

By:

Keating, Katherine E.;
Quane, Kathleen A.;
Manning, Bernadette M.;
Lehane, Mary;
Hartung, Edmund;
Censier, Kathrin;
Urwyler, Albert;
Klausnitzer, Monika;
Muller, Clemens R.;
Heffron, James J.A.;
McCarthy, Tommie V.

Publication type:

Article

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1823

By:

Ouweland, Ans M.W. van den;
Deelen, Wout H.;
Kunst, Catherine B.;
Uzielli, Maria-Luisa Giovannucci;
Nelson, David L.;
Warren, Stephen T.;
Oostra, Ben A.;
Halley, Dicky J.J.

Publication type:

Article

A heat shock gene at 14q22: mapping and expression.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1819

By:

Roux, Anne-Françoise;
Nguyen, T.T. Van;
Squire, Jeremy A.;
Cox, Diane W.

Publication type:

Article

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1789

By:

Lind, Lisbet;
Lundström, Anita;
Hofer, Per-Åke;
Holmgren, Gösta

Publication type:

Article

Haplotype analysis of MEN 2 mutations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1771

By:

Gardner, Emily;
Mulligan, Lois M.;
Eng, Charis;
Healey, Catherine S.;
Kwok, John B.J.;
Ponder, Margaret A.;
Ponder, Bruce A.J.

Publication type:

Article

A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1811

By:

Patil, Nila;
Peterson, Andrew;
Rothman, Alana;
Jong, Pieter J.de;
Myers, Richard M.;
Cox, David R.

Publication type:

Article

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1783

By:

Frederick, Gregory D.;
Amirkhan, Robin H.;
Schultz, Roger A.;
Friedberg, Errol C.

Publication type:

Article

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1807

By:

Fujita, Hiroyoshi;
Kondo, Masao;
Taketani, Shigeru;
Nomura, Nakao;
Furuyama, Kazumichi;
Akagi, Relko;
Nagai, Tadashi;
Terajima, Masanori;
Galbraith, Richard A.;
Sassa, Shigeru

Publication type:

Article

High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1801

By:

Bengtsson, Ulla;
Altherr, Michael R.;
Wasmuth, John J.;
Winokur, Sara T.

Publication type:

Article

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1795

By:

Eng, Christine M.;
Niehaus, Dana J.;
Enriquez, Annette L.;
Burgert, Tania S.;
Ludman, Mark D.;
Desnick, RobertJ.

Publication type:

Article

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1757

By:

Figlewicz, Denise A.;
Krizus, Aldis;
Martinoli, Maria G.;
Meininger, Vincent;
Dib, Michel;
Rouleau, Guy A.;
Julien, Jean-Pierre

Publication type:

Article

The phospholipase C β3 gene located in the MEN1 region shows loss of expression in endocrine tumours.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1775

By:

Weber, Günther;
Friedman, Eitan;
Grimmond, Sean;
Hayward, Nicholas K.;
Phelan, Catherine;
Skogseid, Britt;
Gobl, Anders;
Zedenius, Jan;
Sandelin, Kerstin;
Teh, Bin Tean;
Carson, Emma;
White, Irene;
Öberg, Kjell;
Shepherd, Joseph;
Nordenskjöld, Magnus;
Larsson, Catharina

Publication type:

Article

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1763

By:

Poulton, J.;
Morten, K.;
Freeman-Emmerson, C.;
Potter, C.;
Sewry, C.;
Dubowitz, V.;
Kidd, H.;
Stephenson, J.;
Whitehouse, W.;
Hansen, F.J.;
Parisi, M.;
Brown, G.

Publication type:

Article

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1751

By:

Conley, Mary Ellen;
Fitch-Hilgenberg, Marjorie E.;
Cleveland, John L.;
Parolini, Ornella;
Rohrer, Jurg

Publication type:

Article

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1743

By:

Hagemann, Tracy L.;
Chen, Yuexin;
Rosen, Fred S.;
Kwan, Sau-Ping

Publication type:

Article

A transcript map of the Down syndrome critical region on chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1735

By:

Peterson, Andrew;
Patil, Nila;
Robbins, Carolyn;
Wang, Lisa;
Cox, David R.;
Myers, Richard M.

Publication type:

Article

Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1725

By:

Rafael, Jill A.;
Sunada, Yoshihide;
Cole, Neil M.;
Campbell, Kevin P.;
Faulkner, John A.;
Chamberlain, Jeffrey S.

Publication type:

Article

Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1717

By:

Lutz, Beat;
Kuratani, Shigeru;
Rugarli, Elena I.;
Wawersik, Stefan;
Wong, Calvin;
Bieber, Frederick R.;
Ballabio, Andrea;
Eichele, Gregor

Publication type:

Article