Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 6

Results: 25

Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C>T).

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU17>3.0.CO;2-V

By:

Meregalli, Mirella;
Pellagatti, Andrea;
Bissolotti, Elena;
Fracanzani, Anna Ludovica;
Fargion, Silvia;
Sampietro, Maurizio

Publication type:

Article

Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 491, doi. 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J

By:

Shiri-Sverdlov, Ronit;
Oefner, Peter;
Green, Limor;
Baruch, Ruth Gershoni;
Wagner, Teresa;
Kruglikova, Anna;
Haitchick, Samario;
Hofstra, Robert M.W.;
Papa, Moshe Z.;
Mulder, Inge;
Rizel, Shulamit;
Bar Sade, Revital Bruchim;
Dagan, Efrat;
Abdeen, Ziad;
Goldman, Boleslaw;
Friedman, Eitan

Publication type:

Article

Novel variants in 3 kb of 5′UTR of the β<sub>1</sub>-adrenergic receptor gene (-93C>T, -210C>T, and -2146T>C): -2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart disease.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 534, doi. 10.1002/1098-1004(200012)16:6<534::AID-HUMU24>3.0.CO;2-X

By:

Wenzel, Katrin;
Felix, Stephan B.;
Bauer, David;
Heere, Petra;
Flachmeier, Christina;
Podlowski, Svenia;
Köpke, Karla;
Hoehe, Margret R.

Publication type:

Article

Mutations in the LMNA gene encoding lamin A/C.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 451, doi. 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9

By:

Genschel, Janine;
Schmidt, Hartmut H.-J.

Publication type:

Article

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 460, doi. 10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4

By:

Kohlhase, Jürgen

Publication type:

Article

First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 467, doi. 10.1002/1098-1004(200012)16:6<467::AID-HUMU3>3.0.CO;2-V

By:

Morisaki, Hiroko;
Higuchi, Itsuro;
Abe, Mayumi;
Osame, Mitsuhiro;
Morisaki, Takayuki

Publication type:

Article

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 502, doi. 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4

By:

Prasad, S.;
Cucci, R.A.;
Green, G.E.;
Smith, R.J.H.

Publication type:

Article

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E

By:

Seia, Manuela;
Cantù-Rajnoldi, Angelo;
Ambrosioni, Antonella;
Fiori, Sabrina;
Bassotti, Alessandra;
Pizzamiglio, G.;
Giunta, Annamaria;
Padoan, Rita

Publication type:

Article

Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 529, doi. 10.1002/1098-1004(200012)16:6<529::AID-HUMU13>3.0.CO;2-N

By:

Leite, Roberta Campanile A.;
Basseres, Daniela S.;
Ferreira, Jovino S.;
Alberto, Fernando Lopes;
Costa, Fernando F.;
Saad, Sara T.O.

Publication type:

Article

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 518, doi. 10.1002/1098-1004(200012)16:6<518::AID-HUMU9>3.0.CO;2-Q

By:

Escary, Jean-Louis;
Cécillon, Michaelle;
Maciazek, Jacqueline;
Lathrop, Mark;
Tournier-Lasserve, Elisabeth;
Joutel, Anne

Publication type:

Article

Identification of two functionally deficient plasma α3-fucosyltransferase ( FUT6) alleles.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 473, doi. 10.1002/1098-1004(200012)16:6<473::AID-HUMU4>3.0.CO;2-T

By:

Elmgren, Anders;
Börjeson, Cecilia;
Mollicone, Rosella;
Oriol, Rafael;
Fletcher, Anne;
Larson, Göran

Publication type:

Article

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 482, doi. 10.1002/1098-1004(200012)16:6<482::AID-HUMU5>3.0.CO;2-O

By:

Grzybowska, Ewa;
Zientek, Helena;
Jasinska, Anna;
Rusin, Marek;
Kozlowski, Piotr;
Sobczak, Krzysztof;
Sikorska, Anna;
Kwiatkowska, Eliza;
Gorniak, Laura;
Kalinowska, Ewa;
Utracka-Hutka, Beata;
Wloch, Jan;
Chmielik, Ewa;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 533, doi. 10.1002/1098-1004(200012)16:6<533::AID-HUMU22>3.0.CO;2-5

By:

Weinhaeusel, Andreas;
Vierhapper, Heinrich;
Schlegl, Robert;
Wagner, Theresa;
Muhr, Daniela;
Scheuba, Christian;
Niederle, Bruno;
Haas, Oskar A.

Publication type:

Article

BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 528, doi. 10.1002/1098-1004(200012)16:6<528::AID-HUMU12>3.0.CO;2-T

By:

Tao, Luan;
Boyd, Mark;
Gonye, Greg;
Malone, Barbara;
Schwaber, Jerrold

Publication type:

Article

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 533, doi. 10.1002/1098-1004(200012)16:6<533::AID-HUMU23>3.0.CO;2-2

By:

Kloos, Patrick;
Mergenthaler, Susanne;
Ranke, Michael B.;
Wollmann, Hartmut A.;
Eggermann, Thomas

Publication type:

Article

Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 530, doi. 10.1002/1098-1004(200012)16:6<530::AID-HUMU16>3.0.CO;2-3

By:

Akkarapatumwong, Varaporn;
Intorasoot, Sorasak;
Oranwiroon, Sumalee;
Thano-otarakul, Prapaporn;
Pung-amritt, Parichat;
Veerakul, Gavivann;
Mahasandana, Chularatana;
Panyim, Sakol;
Yenchitsomanus, Pa-thai

Publication type:

Article

Polymorphisms in a pseudogene highly homologous to PMS2.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 530, doi. 10.1002/1098-1004(200012)16:6<530::AID-HUMU15>3.0.CO;2-6

By:

Chadwick, Robert B.;
Meek, Julie E.;
Prior, Thomas W.;
Peltomaki, PaivI;
de la Chapelle, Albert

Publication type:

Article

Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 529, doi. 10.1002/1098-1004(200012)16:6<529::AID-HUMU14>3.0.CO;2-K

By:

Kiechle, Marion;
Gross, Eva;
Schwarz-Boeger, Ulrike;
Pfisterer, Jacobus;
Jonat, Walter;
Gerber, Wolf-Dieter;
Albacht, Birgit;
Fischer, Barbara;
Schlegelberger, Brigitte;
Arnold, Norbert

Publication type:

Article

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 509, doi. 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V

By:

Wijmenga, Cisca;
Hansen, R. Scott;
Gimelli, Giorgio;
Björck, Erik J.;
Davies, E. Graham;
Valentine, David;
Belohradsky, Bernd H.;
van Dongen, Jacques J.;
Smeets, Dominique F.C.M.;
van den Heuvel, Lambert P.W.J.;
Luyten, Jan A.F.M.;
Strengman, Eric;
Weemaes, Corry;
Pearson, Peter L.

Publication type:

Article

Novel thymidylate synthase enhancer region alleles in African populations.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 528, doi. 10.1002/1098-1004(200012)16:6<528::AID-HUMU11>3.0.CO;2-W

By:

Marsh, Sharon;
Ameyaw, Margaret M.;
Githang'a, Jessie;
Indalo, Anne;
Ofori-Adjei, David;
McLeod, Howard L.

Publication type:

Article

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency syndrome; Dong Wang; Pamela Kranz-Eble; Darryl C. De Vivo; (Article was originally published in Human Mutation 16:224-231, 2000).

Published in:: Human Mutation, 2000, v. 16, n. 6, p. 527, doi. 10.1002/1098-1004(200012)16:6<527::AID-HUMU10>3.0.CO;2-1
Publication type:: Article

TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 533, doi. 10.1002/1098-1004(200012)16:6<533::AID-HUMU21>3.0.CO;2-8

By:

Leung, Yuk-Fai;
Oi-Sin Tam, Pancy;
Baum, Larry;
Lam, Dennis Shun-Chiu;
Chi-Pui Pang, Calvin

Publication type:

Article

Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU19>3.0.CO;2-P

By:

Batandier, Cécile;
Picard, Aleth;
Tessier, Nadine;
Lunardi, Joël

Publication type:

Article

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 534, doi. 10.1002/1098-1004(200012)16:6<534::AID-HUMU25>3.0.CO;2-U

By:

Berger, Johannes;
Korosec, Thomas;
Unterrainer, Gertraud;
Molzer, Brunhilde

Publication type:

Article

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU18>3.0.CO;2-S

By:

De Siervi, Adriana;
Parera, Victoria E.;
del C. Batlle, Alcira M.;
Rossetti, María V.

Publication type:

Article