Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 4

Results: 35

Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 390, doi. 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO;2-K

By:

Gitomer, William L.;
Reed, Berenice Y.;
Pak, Charles Y.C.

Publication type:

Article

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 380, doi. 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU11>3.0.CO;2-T

By:

Xenophontos, Stavroulla L.;
Pierides, Alkis;
Demetriou, Kyproulla;
Avraamides, Panicos;
Manoli, Panayiotis;
Ayrton, Nafsika;
Skordis, Nicos;
Anastasiadou, Violetta;
Miltiadous, George;
Cariolou, Marios A.

Publication type:

Article

The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 385, doi. 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO;2-A

By:

Ben-Chetrit, Eldad;
Lerer, Israela;
Malamud, Esther;
Domingo, Cecile;
Abeliovich, Dvorah

Publication type:

Article

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 324, doi. 10.1002/(SICI)1098-1004(200004)15:4<324::AID-HUMU4>3.0.CO;2-5

By:

Lagerstedt, K.;
Carlberg, B.-M.;
Karimi-Nejad, R.;
Kleijer, W.J.;
Bondeson, M.-L.

Publication type:

Article

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA<sup>Lys</sup> gene.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 382, doi. 10.1002/(SICI)1098-1004(200004)15:4<382::AID-HUMU15>3.0.CO;2-B

By:

Akita, Yukihiro;
Koga, Yasutoshi;
Iwanaga, Rikako;
Wada, Naoko;
Tsubone, Junko;
Fukuda, Seiichi;
Nakamura, Yasuhiro;
Kato, Hirohisa

Publication type:

Article

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 387, doi. 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T

By:

Wei, Jian;
Fish, Frank A.;
Myerburg, Robert J.;
Roden, Dan M.;
George, Alfred L.

Publication type:

Article

β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L

By:

Morrone, A.;
Bardelli, T.;
Donati, M.A.;
Giorgi, M.;
Di Rocco, M.;
Gatti, R.;
Parini, R.;
Ricci, R.;
Taddeucci, G.;
D'Azzo, A.;
Zammarchi, E.

Publication type:

Article

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U

By:

Medlej-Hashim, Myrna;
Rawashdeh, Mohammed;
Chouery, Eliane;
Mansour, Issam;
Delague, Valérie;
Lefranc, Gérard;
Naman, Roger;
Loiselet, Jacques;
Mégarbané, André

Publication type:

Article

Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 373, doi. 10.1002/(SICI)1098-1004(200004)15:4<373::AID-HUMU10>3.0.CO;2-O

By:

Purroy, Jesús;
Bisceglia, Luigi;
Jaeken, Jaak;
Gasparini, Paolo;
Palacín, Manuel;
Nunes, Virginia

Publication type:

Article

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 385, doi. 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU21>3.0.CO;2-D

By:

Yip, Ka-Lun;
Chan, Siu-Yuen;
Ip, Wai-Kee;
Lau, Yu-Lung

Publication type:

Article

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 383, doi. 10.1002/(SICI)1098-1004(200004)15:4<383::AID-HUMU18>3.0.CO;2-#

By:

Tyynismaa, Henna;
Kaitila, Ilkka;
Näntö-Salonen, Kirsti;
Ala-Houhala, Marja;
Alitalo, Tiina

Publication type:

Article

Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 389, doi. 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU29>3.0.CO;2-E

By:

Little, Melissa;
Carman, Gregory;
Donaldson, Eric

Publication type:

Article

Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 381, doi. 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU14>3.0.CO;2-H

By:

Blesa, José Rafael;
García, José Angel;
Ochoa, Enrique

Publication type:

Article

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 387, doi. 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W

By:

Russo, S.;
Cogliati, F.;
Viri, M.;
Cavalleri, F.;
Selicorni, A.;
Turolla, L.;
Belli, S.;
Romeo, A.;
Larizza, L.

Publication type:

Article

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N

By:

Lachtermacher, M.B.R.;
Seuánez, H.N.;
Moser, A.B.;
Moser, H.W.;
Smith, K.D.

Publication type:

Article

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 390, doi. 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N

By:

Wu, Mei-Chen;
Tsai, Fuu-Jen;
Le, Cheng-Chun;
Lin, Shuan-Pei;
Wu, Jer-Yuarn

Publication type:

Article

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 316, doi. 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9

By:

Zhang, Y.-H.;
Dipple, K.M.;
Vilain, E.;
Huang, B.-L.;
Finlayson, G.;
Therrell, B.L.;
Worley, K.;
Deininger, P.;
McCabe, E.R.B.

Publication type:

Article

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU20>3.0.CO;2-J

By:

Nogueira, Paulo Koch;
Vuong, Tran Son;
Bouton, Olivier;
Maillard, Anne;
Marchand, Martial;
Rolland, Marie Odile;
Cochat, Pierre;
Bozon, Dominique

Publication type:

Article

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 389, doi. 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0

By:

Wu, Jer-Yuarn;
Yang, Chi-Fan;
Lee, Cheng-Chun;
Chang, Jan-Gowth;
Tsai, Fuu-Jen

Publication type:

Article

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 309, doi. 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C

By:

Mornet, Etienne

Publication type:

Article

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 381, doi. 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K

By:

Rake, Jan Peter;
ten Berge, Annelies M.;
Visser, Gepke;
Verlind, Edwin;
Niezen-Koning, Klary E.;
Buys, Charles H.C.M.;
Smit, G. Peter A.;
Scheffer, Hans

Publication type:

Article

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU24>3.0.CO;2-1

By:

Brooimans, Rik A.;
van den Berg, Adriënne J.A.M;
Tamminga, Rienk Y.J.;
Revesz, Tom;
Wulffraat, Nico M.;
Zegers, Ben J.M.

Publication type:

Article

An R223P mutation in EXT2 gene causes hereditary multiple exostoses.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 390, doi. 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E

By:

Shi, Yi-Ru;
Wu, Jer-Yuarn;
Tsai, Fuu-Jen;
Lee, Cheng-Chun;
Tsai, Chang-Hai

Publication type:

Article

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 ( GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y

By:

Mersiyanova, Irina V.;
Ismailov, Sookhrat M.;
Polyakov, Alexandr V.;
Dadali, Elena L.;
Fedotov, Valeriy P.;
Nelis, Eva;
Löfgren, Ann;
Timmerman, Vincent;
Van Broeckhoven, Christine;
Evgrafov, Oleg V.

Publication type:

Article

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 383, doi. 10.1002/(SICI)1098-1004(200004)15:4<383::AID-HUMU17>3.0.CO;2-2

By:

Torres, R.J.;
Mateos, F.A.;
Molano, J.;
Gathoff, B.S.;
O'Neill, J.P.;
Gundel, R.M.;
Trombley, L.;
Puig, J.G.

Publication type:

Article

A novel polymorphism (219G>A) in the transferrin receptor gene.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 389, doi. 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU28>3.0.CO;2-H

By:

Meregalli, Mirella;
Corbetta, Noemi;
Pellagatti, Andrea;
di Montemuros, Franco Martinez;
Tavazzi, Dario;
Fargion, Silvia;
Sampietro, Maurizio

Publication type:

Article

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 389, doi. 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU30>3.0.CO;2-3

By:

Bonuccelli, Gloria;
Filocamo, Mirella;
Regis, Stefano;
Corsolini, Fabio;
Mazzotti, Raffaella;
Gatti, Rosanna

Publication type:

Article

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N

By:

White, Karen;
Marquardt, Andreas;
Weber, Bernhard H.F.

Publication type:

Article

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 380, doi. 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU12>3.0.CO;2-Q

By:

Giorgi, Massimo;
Morrone, Amelia;
Donati, M. Alice;
Ciani, Federica;
Bardelli, Tiziana;
Biasucci, Giacomo;
Zammarchi, Enrico

Publication type:

Article

Novel mutations of the RPGR gene in RP3 families.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4

By:

Zito, Ilaria;
Gorin, Michael B.;
Plant, Catherine;
Bird, Alan C.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 390, doi. 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU34>3.0.CO;2-H

By:

Seydewitz, Hans Hermann;
Mall, Marcus;
Kuehr, Joachim

Publication type:

Article

Mutation in the PAX6 gene in twenty patients with aniridia.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(200004)15:4<332::AID-HUMU5>3.0.CO;2-1

By:

Chao, Lian-Yu;
Huff, Vicki;
Strong, Louise C.;
Saunders, Grady F.

Publication type:

Article

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 382, doi. 10.1002/(SICI)1098-1004(200004)15:4<382::AID-HUMU16>3.0.CO;2-8

By:

Kim, Soo-Jeong;
Cook, Edwin H.

Publication type:

Article

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 388, doi. 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N

By:

Adato, Avital;
Weston, Michael D.;
Berry, Asher;
Kimberling, William J.;
Bonne-Tamir, Atsheva

Publication type:

Article

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 367, doi. 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C

By:

Noguchi, Atsuko;
Shoji, Yutaka;
Koizumi, Akio;
Takahashi, Tsutomu;
Shoji, Yasuko;
Matsumori, Mika;
Kayo, Tsuyoshi;
Ohata, Tomoaki;
Wada, Yasuhiko;
Yoshimura, Ihoko;
Maisawa, Shunichi;
Konishi, Mineo;
Takasago, Yuhei;
Takada, Goro

Publication type:

Article