Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 8

Results: 53

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 8, p. 1447
Publication type:: Article

Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1446

By:

Bokhoven, H.van;
Genderen, C.van;
Ropers, H.-H.;
Cremers, F.P.M.

Publication type:

Article

A (GA)n repeat polymorphism in the human protamine 2 (PRM 2) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1445

By:

Schnūlle, V.;
Schlicker, Mike;
Engel, Wolfgang

Publication type:

Article

Dinucleotide repeat polymorphism at the CHRND locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1445

By:

Landa, B.L.;
Reynolds, J.E.;
Beeson, David;
Diehl, S.R.

Publication type:

Article

SSCP at the HTR1DA locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1444

By:

Kasapi, M.;
Holik, John;
Shah, Meeta;
Hoff, Mark;
Coon, Hilary;
Byerley, William

Publication type:

Article

Ddel polymorphism in the AGTR1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1444

By:

Doria, A.;
Ji, L.;
Warram, J.H.;
Krolewski, A.S.

Publication type:

Article

An A to G polymorphism in the SHBG gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1443

By:

Xu, Yongsheng;
Li, Honghua

Publication type:

Article

Two dinucleotide repeat polymorphisms at 17p13.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1443

By:

Stack, M.;
Crichton, D.;
Santibanez-Koref, M.

Publication type:

Article

An Rsa\ polymorphism for the fibrillin gene (FBN1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1442

By:

BIack, C.M.;
Wrthers, A.P.;
Boxer, M.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS1684 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1442

By:

Gong, W.;
Hu, L.;
Kioschis, P.;
Poutska, A.;
Dahl, N.

Publication type:

Article

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1441

By:

Velasco, E.;
de la Puente, A.;
Cruces, J.;
Valero, M. del Carmen;
Garcfa-Patino, E.;
Castillo, l.del;
Coloma, A.;
Moren, F.;
Hernández-Chico, C.

Publication type:

Article

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1439

By:

Attle, Tanla;
Pelet, Anna;
Sarda, Pierre;
Eng, Chads;
Edery, Patrick;
Mulligan, Lois M.;
Ponder, Bruce A.J.;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1437

By:

lida, Taku;
Nakahori, Yutaka;
Komaki, Rie;
Mori, Eri;
Hayashi, Nobuyoshi;
Tsutsumi, Osamu;
Taketani, Yuji;
Nakagome, Yasuo

Publication type:

Article

Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1435

By:

M.Reld, Fiona;
A.Vernham, Guy;
T.Jacobs, Howard

Publication type:

Article

A novel mutation in the von Hippel — Lindau gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1423

By:

B.Loeb, Deborah;
A.Pericak-Vance, Margaret;
M.StajIch, Jeffrey;
Vance, Jeffery M.

Publication type:

Article

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1431

By:

Cheadle, Jeremy P.;
Belloni, Elena;
Ferrari, Maurizio;
Millar-Jones, Lynne;
L.Meredith, Alison

Publication type:

Article

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1429

By:

Wenkert, David;
Merendino, John J.;
Shenker, Andrew;
Thambl, Nina;
Robertson, Gary L.;
Moses, Arnold M.;
Spiegel, Allen M.

Publication type:

Article

A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1427

By:

Tomatsu, Shunji;
Fukuda, Seiji;
Ogawa, Tatsuya;
Kato, Zenichiro;
Isogal, Kouji;
Kondo, Nsomi;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Sukegawa, Kazuko;
Orii, Tadao

Publication type:

Article

Are CpG sites mutation hot spots in the dystrophin gene?

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1425

By:

Akalin, Nur;
Zletklewicz, Ewa;
Makalowskl, Wojclech;
Labuda, Damian

Publication type:

Article

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1433

By:

Souied, Eric;
Gerber, Sylive;
Rozet, Jean-Michel;
Bonneau, Dominique;
Dufier, Jean-Louis;
Ghazi, Ihmad;
Philip, Nicole;
Soubrane, Gisèle;
Coscas, Gabriel;
Munnich, Arnold;
Kaplan, Josseline

Publication type:

Article

Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1421

By:

Antiolo, Guillermo;
Sánchez, Beatriz;
Borrego, Salud;
Rueda, Trinidad;
Chaparro, Pedro;
Cabeza, Juan C.

Publication type:

Article

A calcium channel mutation causing hypokalemic periodic paralysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1415

By:

Jurkat-Rott, Karln;
Lehmann-Horn, Frank;
Elbaz, Alexis;
Heine, Roland;
Gregg, Ronald G.;
Hogan, Kirk;
Powers, Patricia A.;
Laple, Pascale;
Vale-Santos, José E.;
Weissenbach, Jean;
Fontaine, Bertrand

Publication type:

Article

Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1409

By:

Buxton, Jessica L.;
Chan, Chi-tsung J.;
Gilbert, Helen;
Clayton-Smith, Jill;
Burn, John;
Pembrey, Marcus;
Malcolm, Susan

Publication type:

Article

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1405

By:

S.P.Rose, Charlotte;
A.J.King, Alexandra;
Summers, Doreen;
Palmer, Roger;
Yang, Samuel;
WIIkle, Andrew O.M.;
Reardon, William;
Malcolm, Sue;
M.Winter, Robin

Publication type:

Article

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1401

By:

Knowles, James A.;
Shugart, Yin;
Banerjee, Poulabl;
Gilllam, T.Conrad;
Lewis, Charies A.;
Jacobson, Samuel G.;
Ott, Jurg

Publication type:

Article

Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1393

By:

Peyrard, Myriam;
Fransson, Ingegerd;
Xie, Ya-Gang;
Han, Fei-Yu;
H.Ruttledge, Martin;
Swahn, Sofie;
Colllns, John E.;
Dunham, Ian;
Collins, V.Peter;
P.Dumanski, Jan

Publication type:

Article

Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1387

By:

Gedde-Dahl, Tobias;
Dupuy, Bertt Myhre;
Jonassen, Reidun;
Winberg, Jan-Olof;
Anton-Lamprecht, Ingrun;
Olalsen, Bjomar

Publication type:

Article

Addition of functional human telomeres to YACs.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1383

By:

Taylor, Stephen S.;
Smith, Chris Tyler

Publication type:

Article

Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1377

By:

Lightfoot, Therese;
Lewkonla, Raymond M.;
Snyder, Floyd F.

Publication type:

Article

Early embryonic failure associated with uniparental disomy for human chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1373

By:

Henderson, Deborah J.;
Sherman, Lisa S.;
C.Loughna, Slobhan;
R.Bennett, Phillip;
E.Moore, Gudrun

Publication type:

Article

The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1365

By:

MacDonald, M.;
Hassold, T.;
Harvey, J.;
Wang, L.H.;
Morton, N.E.;
Jacobs, P.

Publication type:

Article

Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1297

By:

Reik, Wolf;
W.Brown, Keith;
E.Slatter, Rosalind;
Sartor, Pat;
Elliott, Margaret;
R.Maher, Eamonn

Publication type:

Article

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1287

By:

Hewitt, Jane E.;
Lyle, Robert;
Clark, Lorraine N.;
Valleley, Elizabeth M.;
Wright, Tracy J.;
Wijmenga, Cisca;
van Deutekom, Judith C.T.;
Francis, Fiona;
Sharpe, Paul T.;
Hofker, Marten;
Frants, Rune R.;
Williamson, Robert

Publication type:

Article

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1345

By:

W.Scherer, Stephen;
Poorka], Parvoneh;
Massa, Hillary;
Soder, Sylvia;
Allen, Todd;
Nunes, Mark;
Geshurl, Dorrit;
Wong, Eddy;
Bellonl, Elena;
Little, Stephen;
Zhou, Lumlng;
Becker, Donna;
Kere, Juha;
Ignatius, Jaakko;
Nllkawa, Norio;
Fukushlma, Yoshlmitsu;
Hasegawa, Tomonobu;
Weissenbach, Jean;
Boncinelli, Edoardo;
Trask, Barbara

Publication type:

Article

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1341

By:

Murata, Yasushi;
Tamari, Mayuml;
Takahashl, Takashi;
Horio, Yoshltsugu;
Hlbi, Kenji;
Yokoyama, Shiro;
Inazawa, Johjl;
Yamakawa, Kazuhiro;
Ogawa, Akimi;
Takahashi, Toshitada;
Nakamura, Yusuke

Publication type:

Article

Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1303

By:

A.Crossey, Paul;
M.Richards, Frances;
Foster, Keith;
reen, Jane S.;
Prowse, Amanda;
Latlf, Farida;
Lerman, Michael I.;
Zbar, Berton;
Atfara, Nabeel A.;
Ferguson-Smith, Malcolm A.;
Maher, Eamonn R.

Publication type:

Article

Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1359

By:

Futreal, P.Andrew;
Cochran, Charles;
Rosenthal, Judith;
Miki, Yoshlo;
Swenson, Jeff;
Hobbs, Maurine;
Bennett, L.Michelle;
Haugen-Strano, Astrid;
Marks, Jeff;
Barrett, J.Carl;
Tavtlglan, Sean V.;
Shattuck-Eldens, Donna;
Kamb, Alexander;
Skolnick, Mark;
Wiseman, Roger W.

Publication type:

Article

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1355

By:

Marinoni, Jean-Christophe;
Boyd, Ellen;
Sherman, Stephanie;
Schwartz, Charles

Publication type:

Article

The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1317

By:

Sargent, Carole A.;
Young, Craig;
Marsh, Sharon;
Ferguson-Smith, Malcolm A.;
Affara, Nabeel A.

Publication type:

Article

Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1309

By:

J.Blake, Julian N.Schofield, Derek;
Simmons, Catherine;
E.Morris, Glenn;
M.TInsley, Jonathon;
Davies, Kay E.;
Edwards, Yvonne H.

Publication type:

Article

Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1337

By:

Rappold, Gudrun A.;
Klink, Albrecht;
Weiss, Blrglt;
Fischer, Christine

Publication type:

Article

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1331

By:

Sheffield, Val C.;
Carml, Rivka;
Kwltek-Black, Anne;
Rokhlina, Tatiana;
Nishlmura, Darryl;
Duyk, Geoffrey M.;
Elbedour, Khalil;
Sunden, Sara L.;
Stone, Edwin M.

Publication type:

Article

Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1325

By:

Delfau-Larue, Marie-Hélène;
Martasek, Pavel;
Grandchamp, Bernard

Publication type:

Article

Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1281

By:

Swaroop, Anand;
Yang-Feng, Teresa L.;
Liu, Wanguo;
Gieser, Linn;
Barrow, Lon L.;
Chen, Kuang-Chao;
Agarwal, Neeraj;
Meisler, Miriam H.;
Smith, David I.

Publication type:

Article

Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1239

By:

Pallanck, Leo;
Ganetzky, Barry

Publication type:

Article

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1217

By:

G.Puffenberger, Erik;
R.Kauffman, Erick;
Bolk, Stacey;
C.Matise, Tara;
S.Washington, Sarah;
Angrist, Misha;
Weissenbach, Jean;
L.Garver, Kenneth;
Mascari, Maria;
Ladda, Roger;
A.SIaugenhaupt, Susan;
Chakravarti, Aravinda

Publication type:

Article

Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1269

By:

Lemmink, Henny H.;
MochlzukJ, Toshlo;
van den Heuvel, Lambertus P.W.J.;
Schröder, Cornells H.;
Barrientos, Alberto;
Monnens, Leo A.H.;
van Oost, Bernard A.;
Brunner, Han G.;
Reeders, Stephen T.;
Smeets, Hubert J.M.

Publication type:

Article

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1259

By:

Zedenlus, Jan;
Wallin, Goran;
Hamberger, Berth;
Nordenskjöld, Magnus;
Weber, Günther;
Larsson, Catharina

Publication type:

Article

Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1245

By:

Ikeno, Masashi;
Masumoto, Hiroshi;
Okazaki, Tuneko

Publication type:

Article

Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1275

By:

Senger, Gabriele;
A.Jones, Tania;
Fldlerová, Helena;
Sanséau, Philippe;
Trowsdale, John;
Duff, Michael;
Sheer, Denise

Publication type:

Article