Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 11

Results: 31

A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2109

By:

Tee, Meng Kian;
Babalola, Gbologade O.;
Aza-Blanc, Pedro;
Speek, Mart;
Gitelman, Stephen E.;
Miller, Walter L.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 11, p. 2185
Publication type:: Article

Mutation of PAX2 in two siblings with renal-coloboma syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2183

By:

Sanyanusin, Phaikasame;
McNoe, Leslie A.;
Sullivan, Michael J.;
Weaver, R.Grey;
Eccles, Michael R.

Publication type:

Article

Germline mosaicism in a female who seemed to be a carrier by sequence analysis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2181

By:

Sommer, Steve S.;
Knöll, Antje;
Greenberg, Cheryl R.;
Ketterling, Rhett P.

Publication type:

Article

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2179

By:

Strasberg, Paula;
Liede, H.Alexander;
Stein, Tristana;
Warren, Irene;
Sutherland, Joanne;
Ray, Peter N.

Publication type:

Article

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2187

By:

Glaser, Benjamin;
Chiu, Ken C.;
Liu, Li;
Anker, Roberto;
Nestorowicz, Ann;
Cox, Nancy J.;
Landau, Heddy;
Kaiser, Nurit;
Thornton, Paul S.;
Stanley, Charles A.;
Cerasi, Erol;
Baker, Lester;
Donis-Keller, Helen;
Permutt, M.Alan

Publication type:

Article

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2175

By:

Tavormina, Patricia L.;
Rimoin, David L.;
Cohn, Daniel H.;
Zhu, Ya-Zhen;
Shiang, Rita;
Wasmuth, John J.

Publication type:

Article

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2159

By:

Camp, Guy Van;
Coucke, Paul;
Balemans, Wendy;
Van Velzen, Désirée;
Van de Bilt, Caroline;
Van Laer, Lut;
Smith, Richard J.H.;
Fukushima, Kunihiro;
Padberg, George W.;
Frants, Rune R.;
Heyning, Paul Van de;
Smith, Shelley D.;
Huizing, Egbert H.;
Willems, Patrick J.

Publication type:

Article

Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2155

By:

Fuchshuber, Arno;
Jean, Genevievè;
Gribouval, Olivler;
Gubler, Marie-Claire;
Broyer, Michel;
Beckmann, Jacques S.;
Niaudet, Patrick;
Antignac, Corinne

Publication type:

Article

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2151

By:

Rampazzo, Alessandra;
Nava, Andrea;
Erne, Paul;
Eberhard, Marc;
Vian, Elisa;
Slomp, Paola;
Tiso, Natascia;
Thiene, Gastano;
Danieli, Gian Antonio

Publication type:

Article

A G→A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2171

By:

Comi, Giacomo P.;
Ciafaloni, Emma;
de Silva, H.A.Rohan;
Prelle, Alessandro;
Bardoni, Alessandra;
Rigoletto, Catia;
Robotti, Micaela;
Bresolin, Nereo;
Moggio, Maurizio;
Fortunato, Francesco;
Ciscato, Patrizia;
Turconi, Anna;
Rose, Allen D.;
Scarlato, Guglielmo

Publication type:

Article

A second autosomal split hand/split foot locus maps to chromosome 10q24–q25.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2165

By:

Nunes, Mark E.;
Schutt, Gregory;
Kapur, Raj P.;
Luthardt, Frederick;
Kukolich, Mary;
Byers, Peter;
Evans, James P.

Publication type:

Article

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2139

By:

Richards, Frances M.;
Payne, Stewart J.;
Zbar, Berton;
Affara, Nabeel A.;
Ferguson-Smith, Malcolm A.;
Maher, Eamonn R.

Publication type:

Article

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2125

By:

Sun, Xi-Ming;
Neuwirth, Clare;
Wade, David P.;
Knight, Brian L.;
Soutar, Anne K.

Publication type:

Article

A common FGFR3 gene mutation in hypochondroplasia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2097

By:

Prinos, Panagiotis;
Costa, Teresa;
Sommer, Annemarie;
Kilpatrick, Michael W.;
Tsipouras, Petros

Publication type:

Article

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2145

By:

Kok, Yvette J.M.de;
Merkx, Gerard F.M.;
van der Maarel, Silvère M.;
Huber, Irene;
Malcolm, Susan;
Ropers, Hans-Hilger;
Cremers, Frans P.M.

Publication type:

Article

A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2187

By:

Tsang, Patricia;
Gilles, Frederic;
Yuan, Luwa;
Kuo, Yu-Hung;
Lupu, Floria;
Samara, Ghassan;
Moosikasuwan, Josh;
Goy, Andre;
Zelenetz, Andrew D.;
Selleri, Licia;
Tycko, Benjamin

Publication type:

Article

The mutational spectrum in Waardenburg syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131

By:

Tassabehji, Mayada;
Newton, Valerie E.;
Liu, Xue-Zhong;
Brady, Angela;
Donnai, Dian;
Krajewska-Walasek, Malgorzata;
Murday, Victoria;
Norman, Andrew;
Obersztyn, Ewa;
Reardon, William;
Rice, John C.;
Trembath, Richard;
Wieacker, Peter;
Whiteford, Margo;
Winter, Robin;
Read, Andrew P.

Publication type:

Article

Normal phenotype in two brothers with a full FMR1 mutation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2103

By:

Smeets, H.J.M.;
Smits, A.P.T.;
Verheij, C.E.;
Theelen, J.P.G.;
Willemsen, R.;
Burgt, I.van de;
Hoogeveen, A.T.;
Oosterwijk, J.C.;
Oostra, B.A.

Publication type:

Article

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2117

By:

Camakaris, James;
Petris, Michael J.;
Bailey, Leanne;
Shen, Peiyan;
Lockhart, Paul;
Glover, Thomas W.;
Barcroft, Christine L.;
Patton, Janet;
Mercer, Julian F.B.

Publication type:

Article

Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2089

By:

Ceccherini, Isabella;
Zhang, An Ling;
Matera, Ivana;
Yang, Gouchen;
Devoto, Marcella;
Romeo, Giovanni;
Cass, Daniel T.

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2081

By:

Santisteban, Ines;
Arredondo-Vega, Francisco X.;
Kelly, Susan;
Loubser, Michael;
Meydan, Naftaly;
Roifman, Chaim;
Howell, P.Lynne;
Bowen, Thomas;
Weinberg, Kenneth I.;
Schroeder, Marlis L.;
Hershfield, Michael S.

Publication type:

Article

Physical mapping of the Tec and Gabrb1 loci reveals that the W mutation on mouse chromosome 5 is associated with an inversion.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2073

By:

Nagle, Deborah L.;
Kozak, Christine A.;
Mano, Hiroyuki;
Chapman, Verne M.;
Bućan, Maja

Publication type:

Article

Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2065

By:

Børresen, Anne-Lise;
Lothe, Ragnhild A.;
Meling, Gunn Iren;
Lystad, Sigrid;
Morrison, Paul;
Lipford, James;
Kane, Michael F.;
Rognum, Torleiv O.;
Kolodner, Richard D.

Publication type:

Article

Molecular analysis of mutations in mutator colorectal carcinoma cell lines.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2057

By:

Bhattacharyya, Nitai P.;
Ganesh, Anil;
Phear, Geraldine;
Richards, Burt;
Skandalis, Adonis;
Meuth, Mark

Publication type:

Article

Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein—tyrosine kinase gene of the EPH family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2033

By:

Ikegaki, Naohiko;
Tang, Xao X.;
Liu, Xing-Ge;
Biegel, Jaclyn A.;
Allen, Cindy;
Yoshioka, Akira;
Sulman, Erik P.;
Brodeur, Garrett M.;
Pleasure, David E.

Publication type:

Article

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2017

By:

Tiranti, Valeria;
Munaro, Monica;
Sandonà, Doriana;
Lamantea, Eleonora;
Rimoldi, Marco;
DiDonato, Stefano;
Bisson, Roberto;
Zeviani, Massimo

Publication type:

Article

Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2047

By:

Stack, Maria;
Jones, David;
White, Gavin;
Liscia, Daniel S.;
Venesio, Tiziania;
Casey, Graham;
Crichton, David;
Varley, Jenny;
Mitchell, Erika;
Santibanez-Koref, Jim Heighway and Mauro

Publication type:

Article

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2025

By:

Savitsky, Kinneret;
Sfez, Sharon;
Tagle, Danilo A.;
Ziv, Yael;
Sartiel, Adam;
Collins, Francis S.;
Shiloh, Yosef;
Rotman, Gallt

Publication type:

Article

Analysis of chromosome behavior in intact mammalian oocytes: monitoring the segregation of a univalent chromosome during female meiosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2007

By:

Hunt, Patricia;
LeMaire, Renée;
Embury, Paula;
Sheean, Leon;
Mroz, Karen

Publication type:

Article

Recombination and allelic association in the Xq/Yq homology region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2013

By:

Li, Lin;
Hamer, Dean H.

Publication type:

Article