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

Results: 29

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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