Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 11

Results: 17

A frameshift mutation in the mouse α1 glycine receptor gene (Gira1) results in progressive neurological symptoms and juvenile death.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 2025

By:

Buckwalter, Marion S.;
Cook, Susan A.;
Davisson, Muriel T.;
White, W. Frost;
Camper, Sally A.

Publication type:

Article

Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference librairies.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 2019

By:

Lawrence, Brenda J.;
Schwabe, Wolfgang;
Kioschls, Petra;
Coy, Johannes F.;
Poustka, Annemarie;
Brennan, Miles B.;
Hochgeschwender, Ute

Publication type:

Article

Cloning the shared components of complex DNA resources.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 2011

By:

Brookes, Anthony J.;
SIorach, Euan M.;
Morrison, Karen E.;
Qureshl, Safia J.;
Blake, Derek;
Davies, Kay;
Porteous, David J.

Publication type:

Article

Human APC gene expression in rodent colonic epithelium in vivo using liposomal gene delivery.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 2005

By:

Westbrook, Carol A.;
Chmura, Steven J.;
Arenas, Richard B.;
Kim, Su Young;
Otto, Glen

Publication type:

Article

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1999

By:

J.WIIkln, Douglas;
Bogaert, Ray;
Lachman, Ralph S.;
L.Rimoin, David;
Eyre, David R.;
Cohn, Daniel H.

Publication type:

Article

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1989

By:

Spelbrink, Johannes N.;
Van Oost, Bernard A.;
Bogert, Coby Van den

Publication type:

Article

REPORTS.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1983

By:

Wehner, Michael;
Clemens, Paula R.;
Engel, Andrew G.;
Killmann, Manfred W.

Publication type:

Article

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1973

By:

Lertrit, Patcharee;
Kapsa, Robert M.L.;
Bernadette Jean-FRANCOLS, M.J.;
Thyagaraian, Dominic;
Noer, A.Salfuddin;
Marzukil, Sangkopt;
Byrne, Edward

Publication type:

Article

Accumulation of genetic alterations during esophageal carcinogenesis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1969

By:

Mori, Takahiro;
Yanagisawa, Aklo;
Yato;
Mlura, Koh;
Nishihira, Tetsuro;
Mori, Shozo;
Nakamura, Yusuke

Publication type:

Article

PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1965

By:

Kobayashi, Kazuhiro;
Mlzuno, Kunihiko;
Hida, Akiko;
Komakl, Rie;
Tomita, Keiko;
Matsushita, Ikumi;
Namlki, Mikio;
Iwamoto, Teruaki;
Tamura, Shohzoh;
Minowada, Shlgeru;
Nakahori, Yutaka

Publication type:

Article

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1957

By:

Stayton, Carol L.;
Dabovic, Branka;
Gulisano, Massimo;
Gecz, Jozef;
Broccoll, VanIa;
Glovanazzl, Serenella;
Bossolasco, Michela;
Monaco, Lucia;
Rastan, Sohalla;
BoncInelli, Edoardo;
Blanchil, Marco E.;
Consalez, G. Giacomo

Publication type:

Article

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1951

By:

D.McLean, Michael;
Roy, Natalie;
E.MacKenzle, Alexander;
Salih, Maysoon;
H.M.Burghes, Arthur;
Simard, Louise;
G.Kornelukw, Robert;
lkeda, Joh-E.;
Surh, Linda

Publication type:

Article

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1945

By:

Casademont, Jordl;
Barrientos, Antonal;
Cardellach, Francese;
Rötlg, Agnes;
Grau, Josep-Maria;
Montoya, Jullo;
Beltlran, Belen;
Cervantes, Francisco;
Rozman, Cirll;
Estlvill, Xavier;
Urbano-Marque, Alvaro;
Numes, Virginia

Publication type:

Article

RET proto-oncogene mutations in French MEN 2A and FMTC families.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1939

By:

Schuffeneker, Isabelle;
Billaud, Marc;
Calender, Alain;
Chambe, Béatrice;
Ginet, Nicole;
Calmettes, Claude;
Modlglian, Elisabeth;
Lenolr, Gilbert M.;
GETC

Publication type:

Article

E-selectin polymorphism and atherosclerosis: an association study.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1935

By:

Wenze, Katrin;
Felix, Stephan;
KIeberi, Franz X.;
Brachold, Raff;
Menke, Thomas;
Schattke, Sebastian;
Schulte, Karl L.;
Gläser, Christiane;
Rohde, Klaus;
Baumann, Gert;
Speer, Astrid

Publication type:

Article

The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1927

By:

A.Jones, Karen;
M.Black, Donald;
A.Brown, Melissa;
L.Griffiths, Beatrice;
M.Nicolai, Hans;
A.Chambers, Julie;
Bonjardim, Marisa;
Xu, Chun-Fang;
Boyd, Marie;
MeFariane, Robert;
Korn, Bernhard;
Poustka, Annemarie;
A.North, Michael;
Schalkwyk, Leo;
Lehrach, Hans;
Solomon, Ellen

Publication type:

Article

A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 11, p. 1919

By:

Neuhausen, S.L.;
Swensen, J.;
Miki, Y.;
Llu, Q.;
Tavtiglan, S.;
Shattuck-Eidens, D.;
Kamb, A.;
Hobbs, M.R.;
Gingrich, J.;
Shizuya, H.;
Kim, U.-J.;
Cochran, C.;
Futreal, P.A.;
Wiseman, R.W.;
Lynch, H.T.;
Tonin, P.;
Narod, S.;
Cannon-Albright, L.;
Skolnick, M.H.;
Goldgar, D.E.

Publication type:

Article