Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 4

Results: 25

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 283, doi. 10.1002/(SICI)1098-1004(1996)7:4<283::AID-HUMU1>3.0.CO;2-A

By:

Summers, Kim M.

Publication type:

Article

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 358, doi. 10.1002/(SICI)1098-1004(1996)7:4<358::AID-HUMU11>3.0.CO;2-1

By:

Jaksch, Michaela;
Hofmann, Sabine;
Kaufhold, Petra;
Obermaier-Kusser, Bert;
Zierz, Stephan;
Gerbitz, Klaus-Dieter

Publication type:

Article

Mutation in the carboxy-terminal propeptide of the proα1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 318, doi. 10.1002/(SICI)1098-1004(1996)7:4<318::AID-HUMU5>3.0.CO;2-4

By:

Oliver, Jane E.;
Thompson, Elizabeth M.;
Pope, F. Michael;
Nicholls, Alan C.

Publication type:

Article

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 370, doi. 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#

By:

Durham-Pierre, Donna;
King, Richard A.;
Naber, John M.;
Laken, Steve;
Brilliant, Murray H.

Publication type:

Article

Mutation detection by solid phase primer extension.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 346, doi. 10.1002/(SICI)1098-1004(1996)7:4<346::AID-HUMU9>3.0.CO;2-6

By:

Shumaker, John M.;
Metspalu, Andres;
Caskey, C. Thomas

Publication type:

Article

Identification of a novel PAX6 gene mutation in an Aniridia patient.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 377, doi. 10.1002/(SICI)1098-1004(1996)7:4<377::AID-HUMU19>3.0.CO;2-#

By:

Sahly, Iman;
Abitbol, Marc;
Laurent, Claudine;
Ghazi, Imad;
Ribeaudeau, Florence;
Vekemans, Michel;
Dufier, Jean-Louis

Publication type:

Article

A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 374, doi. 10.1002/humu.1380070402

By:

Petreska, Lidija;
Plašeska, Dijana;
Kočeva, Svetlana;
Stavljenić-Rukavina, Ana;
Efremov, Georgi Dimitar

Publication type:

Article

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(1996)7:4<355::AID-HUMU10>3.0.CO;2-1

By:

Kawanishi, Chiaki;
Sugiyama, Naoya;
Osaka, Hitoshi;
Inoue, Ken;
Suzuki, Kyoko;
Onishi, Hideki;
Yamada, Yoshiteru;
Nezu, Atsuo;
Kimura, Seiji;
Kosaka, Kenji

Publication type:

Article

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B

By:

Hess, Barbara;
Kafert, Sabine;
Heinisch, Uwe;
Wenger, David A.;
Zlotogora, Joel;
Gieselmann, Volkmar

Publication type:

Article

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 367, doi. 10.1002/(SICI)1098-1004(1996)7:4<367::AID-HUMU14>3.0.CO;2-0

By:

Timmers, Cynthia;
Grompe, Markus

Publication type:

Article

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C

By:

Benlian, Pascale;
de Gennes, Jean Luc;
Dairou, François;
Hermelin, Brigitte;
Ginon, Isabelle;
Villain, Elizabeth;
Lagarde, Jean Pierre;
Federspiel, Marie Christine;
Bertrand, Véronique;
Bernard, Chantal;
Bereziat, Gilbert

Publication type:

Article

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 376, doi. 10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.0.CO;2-#

By:

Bienvenu, Thierry;
Chertkoff, Lilien;
Beldjord, Cherif;
Segal, Edgardo;
Carniglia, Luis;
Barreiro, Cristina;
Kaplan, Jean-Claude

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 7, n. 4, p. fmi, doi. 10.1002/humu.1380070401
Publication type:: Article

Erratum.

Published in:: Human Mutation, 1996, v. 7, n. 4, p. 382, doi. 10.1002/humu.1380070405
Publication type:: Article

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 379, doi. 10.1002/(SICI)1098-1004(1996)7:4<379::AID-HUMU20>3.0.CO;2-Z

By:

St-Louis, Maryse;
Poudrier, Jacques;
Tanguay, Robert M.

Publication type:

Article

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 304, doi. 10.1002/(SICI)1098-1004(1996)7:4<304::AID-HUMU3>3.0.CO;2-8

By:

Cheng, Suzanne;
Barceló, Juana M.;
Korneluk, Robert G.

Publication type:

Article

Deletion of Gly<sup>723</sup> in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 364, doi. 10.1002/(SICI)1098-1004(1996)7:4<364::AID-HUMU13>3.0.CO;2-0

By:

Esposito, Diana L.;
Mammarella, Sandra;
Ranieri, Annalisa;
Loggia, Fulvio Della;
Capani, Fabio;
Consoli, Agostino;
Mariani-Costantini, Renato;
Caramia, Felice Giacomo;
Cama, Alessandro;
Battista, Pasquale

Publication type:

Article

Mutations in the BRCA1 gene in Japanese breast cancer patients.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1996)7:4<334::AID-HUMU7>3.0.CO;2-8

By:

Katagiri, Toyomasa;
Emi, Mitsuru;
Ito, Isao;
Kobayashi, Kanji;
Yoshimoto, Masataka;
Iwase, Takuji;
Kasumi, Fujio;
Miki, Yoshio;
Skolnick, Mark H.;
Nakamura, Yusuke

Publication type:

Article

A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 375, doi. 10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.0.CO;2-#

By:

Petreska, Lidija;
Kočeva, Svetlana;
Efremov, Georgi Dimitar

Publication type:

Article

Announcement.

Published in:: Human Mutation, 1996, v. 7, n. 4, p. 381, doi. 10.1002/humu.1380070404
Publication type:: Article

CDKN2A (p16<sup>INK4A</sup>) somatic and germline mutations.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(1996)7:4<294::AID-HUMU2>3.0.CO;2-9

By:

Smith-Sørensen, Birgitte;
Hovig, Eivind

Publication type:

Article

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 361, doi. 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0

By:

Isbrandt, Dirk;
Hopwood, John J.;
von Figura, Kurt;
Peters, Christoph

Publication type:

Article

Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 327, doi. 10.1002/(SICI)1098-1004(1996)7:4<327::AID-HUMU6>3.0.CO;2-5

By:

Jeon, Hae Mung;
Lynch, Patrick M.;
Howard, Linda;
Ajani, Jaffer;
Levin, Bernard;
Frazier, Marsha L.

Publication type:

Article

Identification of a donor splice site mutation leading to loss of p22- phox exon 5 in autosomal chronic granulomatous disease.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 374, doi. 10.1002/(SICI)1098-1004(1996)7:4<374::AID-HUMU16>3.0.CO;2-#

By:

Porter, Colin D.;
Parkar, Mohamed H.;
Kinnon, Christine

Publication type:

Article

Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 377, doi. 10.1002/humu.1380070403

By:

Bellone, Emilia;
Mandich, Paola;
James, Rosella;
Nelis, Eva;
Lamba, Laura Doria;
Van Broeckhoven, Christine;
Ajmar, Franco

Publication type:

Article