Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 9

Results: 47

Instructions to Authors.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 9, p. 1717
Publication type:: Article

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1716

By:

Consevage, M.W.;
Salada, G.C.;
Baylen, B.G.;
Ladda, R.L.;
Rogan, P.K.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 9, p. 1715
Publication type:: Article

Microsatellite repeat polymorphism at the D16S366 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1713

By:

Schultz, E.A.;
Callen, D.F.;
Doggett, N.A.;
Haines, J.L.;
Lerner, T.J.

Publication type:

Article

A dinucleotide repeat polymorphism at the D9S749 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1713

By:

Brown, G.M.;
Furlong, R.A.;
Affara, N.A.

Publication type:

Article

Dinucleotide repeat polymorphism at D14S542.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1712

By:

Carey, M.L.;
Liang, Y.;
Barber, T.D.;
Morell, R.;
Johnson, D.H.;
Cox, S.;
Asher, J.H.;
Friedman, T.B.

Publication type:

Article

G/T polymorphism in CRYA2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1712

By:

Ashworth, A.;
Campbell, T.;
Palmer, M.;
Collinge, J.;
Brown, J.

Publication type:

Article

Amino acid polymorphism (Gly209Ser) in the ACADS gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1711

By:

Kristensen, M.J.;
Kmoch, S.;
Bross, P.;
Andresen, B.S.;
Gregersen, N.

Publication type:

Article

HindIll RFLP in the human CD53 gene on 1p13.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1711

By:

Gallego, M.I.;
Varas, F.;
Lazo, P.A.

Publication type:

Article

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1703

By:

Paffenholz, Ralner;
Mandl, Marion;
Caspari, Reiner;
Sengteller, Marlies;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

Dinucleotide repeat polymorphism in the human IL1A gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1710

By:

Epplen, C.;
Frank, G.;
Gomolka, M.;
Albert, E.;
Nurnberg, P.;
Epplen, J.T.

Publication type:

Article

A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1709

By:

Nakahori, Y.;
Kobayashi, K.;
Komaki, R.;
Matsushita, I.;
Nakagome, Y.

Publication type:

Article

Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1707

By:

lizuka, Masayoshi;
Sugiyama, Yuki;
Jones, Carol;
Oshimura, Mitsuo;
Hayashi, Kenshi;
Sekiya, Takao

Publication type:

Article

A de novo deletion in FMR1 in a patient with developmental delay.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1705

By:

Gu, Yanghong;
Lugenbeel, Kellle A.;
Vockley, Joseph G.;
Grody, Wayne W.;
Nelson, David L.

Publication type:

Article

SSC polymorphisms in interleukin genes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1710

By:

Borish, L.;
Mascali, J.J.;
Klinnert, M.;
Leppert, M.;
Rosenwasser, L.J.

Publication type:

Article

Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1701

By:

Rautenstrauβ, Bernd;
Nelis, Eva;
Grehl, Holger;
Pfeiffer, Rudolf A.;
Van Broeckhoven, Christine

Publication type:

Article

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1693

By:

Dunnill, M.G.S.;
Richards, A.J.;
Mllana, G.;
Mollica, F.;
Eady, R.A.J.;
Pope, F.M.

Publication type:

Article

The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1633

By:

Pritchard-Jones, K.;
Renshaw, J.;
King-Underwood, L.

Publication type:

Article

Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1621

By:

Forsman, Kristina;
Lind, Lisbet;
Bäckman, Birgitta;
Westermark, Eleonora;
Holmgren, Gösta

Publication type:

Article

A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1617

By:

Narcisi, Paolo;
J.Richards, Allan;
Ferguson, Stanley D.;
Pope, F.Michael

Publication type:

Article

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1699

By:

Orth, Ulrike;
Fairweather, Nicholas;
Exler, Mareike-Christine;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Deletion of the ferrochelatase gene in a patient with protoporphyria.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1695

By:

Magness, Scott T.;
Tugores, Antonio;
Christensen, Steven R.;
Wagner-Mcpherson, Caryn;
Evans, Glen A.;
Naylor, Edwin W.;
Brenner, David A.

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. 9, p. 1687

By:

Stella, Alessandro;
Montera, Mariapina;
Resta, Nicoletta;
Marchese, Cristina;
Susca, Francesco;
Gentile, Mattia;
Romio, Leila;
Pilia, Simonetta;
Prete, Ferdinando;
Mareni, Cristina;
Guanti, Ginevra

Publication type:

Article

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1689

By:

Simard, Jacques;
Moorjani, Sital;
Vohl, Marie-Claude;
Couture, Patrick;
Torres, Ana L.;
Gagné, Claude;
Després, Jean-Pierre;
Labrie, Fernand;
Lupien, Paul J.

Publication type:

Article

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1685

By:

Faà, V.;
Ventruto, M.L.;
Loche, S.;
Bozzola, M.;
Podda, R.;
Cao, A.;
Rosatelli, M.C.

Publication type:

Article

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1683

By:

Orimo, Hideo;
Hayashi, Zuisei;
Watanabe, Atsushi;
Hirayama, Tsunenori;
Hirayama, Tsuneo

Publication type:

Article

The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1679

By:

Tonin, Patricia;
Serova, Olga;
Simard, Jacques;
Lenoir, Gilbert;
Feunteun, Jean;
Morgan, Kenneth;
Lynch, Henry;
Narod, Steven

Publication type:

Article

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1675

By:

Byck, Susan;
Morgan, Ken;
Tyfield, Linda;
Dworniczak, Bernd;
Scriver, Charles R.

Publication type:

Article

Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1663

By:

de Fatima, Maria;
Yu, Ming-Tsung;
Jelenc, Plerre;
Brown, Stephen;
Su, Long;
Lawton, Lee;
Deaven, Larry;
Eistratiadis, Argiris;
Warburton, Dorothy;
Soares, Marcelo Bento

Publication type:

Article

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1657

By:

Hillaire, Dominique;
Leclerc, Anne;
Fauré, Sabine;
Topaloglu, Haluk;
Chiannllkulchaï, Nuchanard;
Guicheney, Pascale;
Grinas, Laurent;
Legos, Patricia;
Philpot, Joanne;
Evangelista, Teresinha;
Routon, Marie-Claude;
Mayer, Michèle;
Pellissier, Jean-Francols;
Estournet, Brigitte;
Barols, Annie;
Hentati, Fayçal;
Feingold, Nicole;
S.Beckmann, Jacqui;
Dubowitz, Victor;
M.S.Tomé, Fernando

Publication type:

Article

Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1639

By:

Sanchez, Roclo;
Mébarki, Farida;
Rhéaume, Eric;
Laflamme, Nathalie;
Forest, Maguelone G.;
Bey-Omard, Faïza;
David, Michel;
Morel, Yves;
Labrle, Fernand;
Simard, Jacques

Publication type:

Article

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1647

By:

Petrukhin, Konstantin;
Lutsenko, Svetiana;
Chernov, Igor;
Ross, Barbara M.;
Kaplan, Jack H.;
Gilliam, T.Conrad

Publication type:

Article

Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1611

By:

John, Rosallnd M.;
Robbins, Carolyn A.;
Myers, Richard M.

Publication type:

Article

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1605

By:

Paganl, Franco;
Zagato, Laura;
Merati, Glullana;
Paone, Giovanni;
Gridelli, Bruno;
Maler, Janette A.

Publication type:

Article

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1599

By:

Zhou, Jianhua;
Spier, Sharon J.;
Beech, Jill;
Hoffman, Eric P.

Publication type:

Article

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1627

By:

Bonthron, David T.;
Brady, Nlcola;
Donaldson, lain A.;
Steinmann, Beat

Publication type:

Article

Dystroglycan: brain localisation and chromosome mapping in the mouse.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1589

By:

C.Górecki, Darlusz;
Derry, Jonathan M.J.;
Barnard, Eric A.

Publication type:

Article

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1583

By:

Boon, Laurence M.;
Mulliken, John B.;
Vikkula, Milkka;
Watkins, Hugh;
Seidman, John;
Olsen, Bjorn R.;
Warman, Matthew L.

Publication type:

Article

p53 tagged sites from human genomic DNA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1537

By:

Tokino, Takashi;
Thiagalingam, Sam;
EI-Deiry, Wafik S.;
Waldman, Todd;
Kinzler, Kenneth W.;
Vogelstein, Bert

Publication type:

Article

MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1575

By:

Smith, Matthijs J.;
Goodfellow, Peter N.

Publication type:

Article

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1565

By:

Okamoto, Nobuhiko;
Wada, Yoshinao;
Ida, Shinobu;
Koga, Ryoichi;
Ozono, Kelichi;
Chiyo, Hide-aki;
Hayashi, Akira;
Tatsumi, Ke-ita

Publication type:

Article

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1561

By:

Brunner, Han G.;
van Beersum, Sylvia E.C.;
Warman, Matt L.;
Olsen, Bjorn R.;
Ropers, Hans-Hilger;
Mariman, Edwin C.M.

Publication type:

Article

Precursor arrays for triplet repeat expansion at the fragile X locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1553

By:

Hirst, Mark C.;
Grewal, Prabhjit K.;
Davies, Kay E.

Publication type:

Article

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1543

By:

Snow, Karen;
Tester, David J.;
Kruckeberg, Kent E.;
Schaid, Daniel J.;
Thibodeau, Stephen N.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1569

By:

Hazan, Jamilé;
Fontaine, Bertrand;
Bruyn, Richard P.M.;
Lamy, Catherine;
van Deutekom, Judith C.T.;
Rime, Clalre-Sophie;
Dürr, Alexandra;
Melkl, Judith;
Lyon-Caen, Olivier;
Agid, Yves;
Munnich, Arnold;
Padberg, George W.;
de Recondo, Jean;
Frants, Rune R.;
Brice, Alexis;
Welssenbach, Jean

Publication type:

Article

Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1529

By:

Sherman, Stephanie L.;
Petersen, Michael B.;
Freeman, Sallie B.;
Hersey, Jane;
Pettay, Dorothy;
Taft, Lisa;
Frantzen, Merete;
Mikkelsen, Margareta;
Hassold, Terry J.

Publication type:

Article

Separation anxiety: the etiology of nondisjunction in flies and people.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1521

By:

Hawley, R.Scott;
A.Frazier, Jennifer;
Rasooly, Rebekah

Publication type:

Article