Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 5

Results: 20

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 396, doi. 10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2

By:

Shastry, Barkur S.;
Hejtmancik, James F.;
Trese, Michael T.

Publication type:

Article

Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 476, doi. 10.1002/(SICI)1098-1004(1997)9:5<476::AID-HUMU20>3.0.CO;2-Z

By:

Matias-Guiu, Xavier;
Lagarda, Elena;
Calaf, Monica;
Azpiroz, Arturo;
De Leiva, Alberto;
Prat, Jaime;
Baiget, Montserrat

Publication type:

Article

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 458, doi. 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1

By:

Cnossen, Marjon H.;
van der Est, Mieke N.;
Breuning, Martijn H.;
van Asperen, Christi J.;
Breslau-Siderius, Elisabeth J.;
van der Ploeg, Ans T.;
de Goede-Bolder, Arja;
van den Ouweland, Ans M. W.;
Halley, Dicky J. J.;
Niermeijer, Martinus F.

Publication type:

Article

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 418, doi. 10.1002/(SICI)1098-1004(1997)9:5<418::AID-HUMU7>3.0.CO;2-#

By:

Vorřechovský, Igor;
Luo, Liping;
Hertz, Jens M.;
Frøland, Stig S.;
Klemola, Timo;
Fiorini, Maurilia;
Quinti, Isabella;
Paganelli, Roberto;
Ozsahin, Hulya;
Hammarström, Lennart;
Webster, A. David B.;
Smith, C. I. Edvard

Publication type:

Article

New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer family.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 474, doi. 10.1002/(SICI)1098-1004(1997)9:5<474::AID-HUMU17>3.0.CO;2-#

By:

Laplace-Marieze, V;
Presneau, N;
Girodet, C;
Vidal, V;
Vaurs, C;
Rio, P;
Bignon, Y-J

Publication type:

Article

Mutations in SRY and SOX9: Testis-determining genes.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 388, doi. 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0

By:

Cameron, Fergus J.;
Sinclair, Andrew H.

Publication type:

Article

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 452, doi. 10.1002/(SICI)1098-1004(1997)9:5<452::AID-HUMU12>3.0.CO;2-1

By:

Ainsworth, PJ;
Chakraborty, PK;
Weksberg, R

Publication type:

Article

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5

By:

Juvonen, Vesa;
Nikoskelainen, Eeva;
Lamminen, Tarja;
Penttinen, Maila;
Aula, Pertti;
Savontaus, Marja-Liisa

Publication type:

Article

Three novel point mutations in the dystrophin gene in DMD patients.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 473, doi. 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU16>3.0.CO;2-#

By:

Lasa, Adriana;
Gallano, Pia;
Baiget, Montserrat

Publication type:

Article

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 383, doi. 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5

By:

Hu, Peiyi Y.;
Lim, E. Justin;
Ciccolella, Jessica;
Strisciuglio, Pietro;
Sly, William S.

Publication type:

Article

Similar mutant frequencies observed between pairs of monozygotic twins.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 445, doi. 10.1002/(SICI)1098-1004(1997)9:5<445::AID-HUMU11>3.0.CO;2-2

By:

Curry, John;
Bebb, Gwyn;
Moffat, Joyce;
Young, Daniel;
Khaidakov, Magomed;
Mortimer, Alan;
Glickman, Barry W.

Publication type:

Article

Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 409, doi. 10.1002/(SICI)1098-1004(1997)9:5<409::AID-HUMU5>3.0.CO;2-Z

By:

Leibundgut, Elisabeth Oppliger;
Liechti-Gallati, Sabina;
Colombo, Jean-Pierre;
Wermuth, Bendicht

Publication type:

Article

A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 473, doi. 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU15>3.0.CO;2-#

By:

Rodenhiser, David I.;
Jung, Jack H.;
Gillet, Jane M. R.;
Hovland, Ken;
Andrews, Joseph;
Ainsworth, Peter J.;
Coulter-Mackie, Marion;
Singh, Shiva M.

Publication type:

Article

(G586V) substitutions in the α1 and α2 chains of collagen I: Effect of α-chain stoichiometry on the phenotype of osteogenesis imperfecta?

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 431, doi. 10.1002/(SICI)1098-1004(1997)9:5<431::AID-HUMU9>3.0.CO;2-6

By:

Lund, Allan M.;
Skovby, Flemming;
Schwartz, Marianne

Publication type:

Article

A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 475, doi. 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU19>3.0.CO;2-#

By:

Kawanishi, Chiaki;
Osaka, Hitoshi;
Owa, Kenji;
Inoue, Ken;
Miyakawa, Tomohiro;
Onishi, Hideki;
Yamada, Yoshiteru;
Suzuki, Kyoko;
Kimura, Seiji;
Kosaka, Kenji

Publication type:

Article

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 437, doi. 10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3

By:

Jensen, Henrik K.;
Jensen, Thomas G.;
Faergeman, Ole;
Jensen, Lillian G.;
Andresen, Brage S.;
Corydon, Morten J.;
Andreasen, Per H.;
Hansen, Peter S.;
Heath, Finn;
Bolund, Lars;
Gregersen, Niels

Publication type:

Article

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 402, doi. 10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5

By:

Rehm, Heidi L.;
Gutiérrez-Espeleta, Gustavo A.;
Garcia, Rafael;
Jiménez, Gerardo;
Khetarpal, Umang;
Priest, Janice M.;
Sims, Katherine B.;
Keats, Bronya J. B.;
Morton, Cynthia C.

Publication type:

Article

Scanning method of identify the molecular heterogeneity of δ-globin gene especially in δ-thalassemias: Detection of three novel substitutions in the promoter region of the gene.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 465, doi. 10.1002/(SICI)1098-1004(1997)9:5<465::AID-HUMU14>3.0.CO;2-0

By:

Papadakis, Manoussos;
Papapanagiotou, Elisavet;
Loutradi-Anagnostou, Afrodite

Publication type:

Article

Analysis of the myoglobin gene in heart disease.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 426, doi. 10.1002/(SICI)1098-1004(1997)9:5<426::AID-HUMU8>3.0.CO;2-1

By:

Fernandez, Eduardo;
Duke, Angie;
Sevrioukova, Irina;
Shohet, Ralph V.

Publication type:

Article

Recurrent COL3A1 mutation results in EDS IV or familial aneurysms.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 475, doi. 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU18>3.0.CO;2-#

By:

Anderson, David W.;
Thakker-Varia, Smita;
Stolle, Catherine A.

Publication type:

Article