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

Results: 31

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
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
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
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
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
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 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
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
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
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
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 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
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
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 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
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
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
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
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
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
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
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
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
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
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