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

Results: 25

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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