Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 5

Results: 29

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU10>3.0.CO;2-#
By:
- Todorova, Albena;
- Ashikov, Angel;
- Beltcheva, Olga;
- Tournev, Ivailo;
- Kremensky, Ivo
Publication type:
Article
A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU21>3.0.CO;2-6
By:
- Khoo, A.S.B.;
- Balraj, P.;
- Volpi, L.;
- Nair, S.
Publication type:
Article
Characterization of the CYP21 gene 5′ flanking region in patients affected by 21-OH deficiency.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 481, doi. 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU14>3.0.CO;2-A
By:
- Bobba, A.;
- Marra, E.;
- Lattanzio, P.;
- Iolascon, A.;
- Giannattasio, S.
Publication type:
Article
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 486, doi. 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU25>3.0.CO;2-S
By:
- Padoan, Rita;
- Costantini, Diana;
- Russo, Maria Chiara;
- Ambrosioni, Antonella;
- Fiori, Sabrina;
- Prandoni, Silvia;
- Cantù-Rajnoldi, Angelo;
- Seia, Manuela;
- Giunta, Annamaria
Publication type:
Article
Analysis of the human KCNH2( HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 483, doi. 10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU18>3.0.CO;2-T
By:
- Paulussen, Aimée;
- Yang, Ping;
- Pangalos, Menelas;
- Verhasselt, Peter;
- Marrannes, Roger;
- Verfaille, Christel;
- Vandenberk, Ine;
- Crabbe, Raf;
- Konings, Frank;
- Luyten, Walter;
- Armstrong, Martin
Publication type:
Article
Novel intronic polymorphism (+1675G/A) in the human angiotensin II subtype 2 receptor gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 487, doi. 10.1002/(SICI)1098-1004(200005)15:5<487::AID-HUMU29>3.0.CO;2-D
By:
- Erdmann, Jeanette;
- Guse, Marco;
- Kallisch, Heike;
- Fleck, Eckart;
- Regitz-Zagrosek, Vera
Publication type:
Article
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 430, doi. 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1
By:
- Watanabe, Hiroh;
- Orii, Kenji E.;
- Fukao, Toshiyuki;
- Song, Xiang-Qian;
- Aoyama, Toshifumi;
- IJlst, Lodewijk;
- Ruiter, Jos;
- Wanders, Ronald J.A.;
- Kondo, Naomi
Publication type:
Article
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 463, doi. 10.1002/(SICI)1098-1004(200005)15:5<463::AID-HUMU8>3.0.CO;2-E
By:
- Espinosa-Parrilla, Yolanda;
- Morell, Marta;
- Borrell, Montserrat;
- Souto, Joan Carles;
- Fontcuberta, Jordi;
- Estivill, Xavier;
- Sala, Núria
Publication type:
Article
Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU20>3.0.CO;2-9
By:
- Morokawa, Nasa;
- Iizuka, Sayoko;
- Tanano, Akihide;
- Katsube, Atsushi;
- Muraji, Toshihiro;
- Eto, Yoshikatsu;
- Yoshimura, Kunihiko
Publication type:
Article
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 480, doi. 10.1002/(SICI)1098-1004(200005)15:5<480::AID-HUMU13>3.0.CO;2-G
By:
- van der Looij, Marco;
- Wysocka, Barbara;
- Brozek, Izabela;
- Jassem, Jacek;
- Limon, Janusz;
- Olah, Edith
Publication type:
Article
Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 486, doi. 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V
By:
- Vuillaumier-Barrot, Sandrine;
- Bizec, Christiane Le;
- Durand, Geneviève;
- Grandchamp, Bernard;
- Seta, Nathalie
Publication type:
Article
Detection of point mutations of BCL10 gene in hepatocellular carcinoma tissues: Report of 46 cases.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 482, doi. 10.1002/(SICI)1098-1004(200005)15:5<482::AID-HUMU17>3.0.CO;2-Z
By:
- Jihua, Cheng;
- Xisheng, Leng;
- Shengli, Cai;
- Zongxian, Cao;
- Guang, Cao;
- Ruyu, Du
Publication type:
Article
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 487, doi. 10.1002/(SICI)1098-1004(200005)15:5<487::AID-HUMU28>3.0.CO;2-G
By:
- Fillat, Cristina;
- Español, Teresa;
- Oset, Marta;
- Cavieres, Mirta;
- dal Borgo, Patricia;
- Estivill, Xavier;
- Volpini, Victor
Publication type:
Article
Three novel somatic mutations in the NF2 tumor suppressor gene [g816T>A; g1159A>G; gIVS11-1G>T].
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 487, doi. 10.1002/(SICI)1098-1004(200005)15:5<487::AID-HUMU27>3.0.CO;2-J
By:
- Paz-y-Miño, César;
- Leone, Paola E.
Publication type:
Article
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 454, doi. 10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J
By:
- Okada, Toshihide;
- Shiono, Yuta;
- Hayashi, Hisao;
- Satoh, Hiro;
- Sawada, Takeshi;
- Suzuki, Ayako;
- Takeda, Yasuo;
- Yano, Motoyoshi;
- Michitaka, Kojiro;
- Onji, Morikazu;
- Mabuchi, Hiroshi
Publication type:
Article
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 480, doi. 10.1002/(SICI)1098-1004(200005)15:5<480::AID-HUMU12>3.0.CO;2-J
By:
- di Montemuros, Franco Martinez;
- Di Pierro, Elena;
- Fargion, Silvia;
- Biolcati, Gianfranco;
- Griso, Daniela;
- Macrì, Annelisa;
- Fiorelli, Gemino;
- Cappellini, Maria Domenica
Publication type:
Article
Two novel polymorphisms, c1086T>C and c1798C>T, in the MADH4/DPC4 gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU23>3.0.CO;2-0
By:
- Moore, Patrick S.;
- Rigaud, Gildas;
- Baron, Antonella;
- Scarpa, Aldo
Publication type:
Article
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene ( PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 482, doi. 10.1002/(SICI)1098-1004(200005)15:5<482::AID-HUMU16>3.0.CO;2-1
By:
- Peoc'h, Katell;
- Manivet, Philippe;
- Beaudry, Patrice;
- Attane, Françoise;
- Besson, Gérard;
- Hannequin, Didier;
- Delasnerie-Lauprêtre, Nicole;
- Laplanche, Jean-Louis
Publication type:
Article
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 418, doi. 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2
By:
- Hofstra, Robert M.W.;
- Wu, Ying;
- Stulp, Rein P.;
- Elfferich, Peter;
- Osinga, Jan;
- Maas, Saskia M.;
- Siderius, Liesbeth;
- Brooks, Alice S.;
- vd Ende, Jenneke J.;
- Heydendael, Vera M.R.;
- Severijnen, René S.V.M.;
- Bax, Klaas M.A.;
- Meijers, Carel;
- Buys, Charles H.C.M.
Publication type:
Article
Ryanodine receptor mutations in malignant hyperthermia and central core disease.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D
By:
- McCarthy, Tommie V.;
- Quane, Kathleen A.;
- Lynch, Patrick J.
Publication type:
Article
Novel mutations in 13 probands with galactokinase deficiency.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M
By:
- Kolosha, V.;
- Anoia, E.;
- de Cespedes, C.;
- Gitzelmann, R.;
- Shih, L.;
- Casco, T.;
- Saborio, M.;
- Trejos, R.;
- Buist, N.;
- Tedesco, T.;
- Skach, W.;
- Mitelmann, O.;
- Ledee, D.;
- Huang, K.;
- Stambolian, D.
Publication type:
Article
Mutations in the human TWIST gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU11>3.0.CO;2-X
By:
- Gripp, Karen W.;
- Zackai, Elaine H.;
- Stolle, Catherine A.
Publication type:
Article
Detection of novel NF2 mutations by an RNA mismatch cleavage method.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 474, doi. 10.1002/(SICI)1098-1004(200005)15:5<474::AID-HUMU9>3.0.CO;2-7
By:
- Faudoa, Rodolfo;
- Xue, Zhu;
- Lee, Frank;
- Baser, Michael E.;
- Hung, Gene
Publication type:
Article
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU22>3.0.CO;2-3
By:
- Padoan, Rita;
- Bassotti, Alessandra;
- Seia, Manuela;
- Ambrosioni, Antonella;
- Fiori, Sabrina;
- Prandoni, Silvia;
- Rajnoldi, Angelo Cantù;
- Giunta, Annamaria;
- Corbetta, Carlo
Publication type:
Article
A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 486, doi. 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU26>3.0.CO;2-P
By:
- Declèves, Xavier;
- Chevillard, Sylvie;
- Charpentier, Charlotte;
- Vielh, Philippe;
- Laplanche, Jean-Louis
Publication type:
Article
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 483, doi. 10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU19>3.0.CO;2-Q
By:
- Mozas, Pilar;
- Cenarro, Ana;
- Civeira, Fernando;
- Castillo, Sergio;
- Ros, Emilio;
- Pocovi, Miguel
Publication type:
Article
Russian mutational spectrum differs from that of their Western counterparts.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 439, doi. 10.1002/(SICI)1098-1004(200005)15:5<439::AID-HUMU5>3.0.CO;2-Q
By:
- Curry, John;
- Khaidakov, Magomed;
- Glickman, Barry W.
Publication type:
Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 ( GJB3) gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 481, doi. 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7
By:
- López-Bigas, Núria;
- Rabionet, Raquel;
- Martínez, Elisabeth;
- Banchs, Isabel;
- Volpini, Víctor;
- Vance, Jeffery M.;
- Arbonés, Maria Lourdes;
- Estivill, Xavier
Publication type:
Article
MTM1 mutations in X-linked myotubular myopathy.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R
By:
- Laporte, Jocelyn;
- Biancalana, Valérie;
- Tanner, Stephan M.;
- Kress, Wolfram;
- Schneider, Vreni;
- Wallgren-Pettersson, Carina;
- Herger, Franziska;
- Buj-Bello, Anna;
- Blondeau, François;
- Liechti-Gallati, Sabina;
- Mandel, Jean-Louis
Publication type:
Article