Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 4

Results: 16

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 321, doi. 10.1002/humu.20089

By:

Hering, Robert;
Strauss, Karsten M.;
Tao, Xiao;
Bauer, Andreas;
Woitalla, Dirk;
Mietz, Eva-Maria;
Petrovic, Slobodanka;
Bauer, Peter;
Schaible, Wilhelm;
Müller, Thomas;
Schöls, Ludger;
Klein, Christine;
Berg, Daniela;
Meyer, Philipp T.;
Schulz, Jörg B.;
Wollnik, Bernd;
Tong, Liang;
Krüger, Rejko;
Riess, Olaf

Publication type:

Article

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9276

By:

Saarela, Jani;
von Schantz, Carina;
Peltonen, Leena;
Jalanko, Anu

Publication type:

Article

GJB2: The spectrum of deafness-causing allele variants and their phenotype.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 305, doi. 10.1002/humu.20084

By:

Azaiez, Hela;
Chamberlin, G. Parker;
Fischer, Stephanie M.;
Welp, Chelsea L.;
Prasad, Sai D.;
Taggart, R. Thomas;
Castillo, Ignacio del;
Camp, Guy Van;
Smith, Richard J. H.

Publication type:

Article

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 330, doi. 10.1002/humu.20091

By:

Persikov, Anton V.;
Pillitteri, Rian J.;
Amin, Priyal;
Schwarze, Ulrike;
Byers, Peter H.;
Brodsky, Barbara

Publication type:

Article

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9282

By:

Isidro, Glória;
Laranjeira, Francisco;
Pires, Ana;
Leite, Júlio;
Regateiro, Fernando;
e Sousa, F. Castro;
Soares, José;
Castro, Clara;
Giria, João;
Brito, Maria J.;
Medeira, Ana;
Teixeira, Ricardo;
Morna, Henrique;
Gaspar, Isabel;
Marinho, Carla;
Jorge, Rosa;
Brehm, António;
Ramos, J. Silva;
Boavida, Maria Guida

Publication type:

Article

Sequence variations of the α-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 338, doi. 10.1002/humu.20088

By:

Lacerra, Giuseppina;
Fiorito, Mirella;
Musollino, Gennaro;
Noce, Francesca Di;
Esposito, Maria;
Nigro, Vincenzo;
Gaudiano, Carlo;
Carestia, Clementina

Publication type:

Article

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9275

By:

Seo, Jae Hong;
Cho, Dae-Yeon;
Ahn, Se-Hyun;
Yoon, Kyung-Sik;
Kang, Chang-Soo;
Cho, Hyun Mi;
Lee, Hyeon Sook;
Choe, Jae Jin;
Choi, Cheul Won;
Kim, Byung Soo;
Shin, Sang Won;
Kim, Yeul Hong;
Kim, Jun Suk;
Son, Gil-Soo;
Lee, Jae-Bok;
Koo, Bum Hwan

Publication type:

Article

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9279

By:

Georgiou, T.;
Drousiotou, A.;
Campos, Y.;
Caciotti, A.;
Sztriha, L.;
Gururaj, A.;
Ozand, P.;
Zammarchi, E.;
Morrone, A.;
D'Azzo, A.

Publication type:

Article

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9281

By:

Alper, Özgül M.;
Wong, Lee-Jun C.;
Young, Suzanne;
Pearl, Michelle;
Graham, Steve;
Sherwin, John;
Nussbaum, Eliezer;
Nielson, Dennis;
Platzker, Arnold;
Davies, Zoe;
Lieberthal, Allan;
Chin, Terry;
Shay, Greg;
Hardy, Karen;
Kharrazi, Martin

Publication type:

Article

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 296, doi. 10.1002/humu.20083

By:

Murphy, Joan A.;
Barrantes-Reynolds, Ramiro;
Kocherlakota, Rama;
Bond, Jeffrey P.;
Greenblatt, Marc S.

Publication type:

Article

Erratum: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9274

By:

Choi, Byung-Ok;
Lee, Mi Sun;
Shin, Sang Hee;
Hwang, Jung Hee;
Choi, Kyoung-Gyu;
Kim, Won-Ki;
Sunwoo, Il Nam;
Kim, Nam Keun;
Chung, Ki Wha

Publication type:

Article

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 351, doi. 10.1002/humu.9278

By:

Krüger, Stefan;
Bier, Andrea;
Plaschke, Jens;
Höhl, Ruth;
Aust, Daniela E.;
Kreuz, Friedmar R.;
Pistorius, Steffen R.;
Saeger, Hans D.;
Rothhammer, Veit;
Al-Taie, Oliver;
Schackert, Hans K.

Publication type:

Article

The cystathionine β-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B<sub>6</sub> nonresponsiveness and a common ancestral haplotype.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9280

By:

Linnebank, Michael;
Janosik, Miroslav;
Kozich, Viktor;
Pronicka, Ewa;
Kubalska, Jolanta;
Sokolova, Jitka;
Linnebank, Anja;
Schmidt, Eva;
Leyendecker, Christina;
Klockgether, Thomas;
Kraus, Jan Peter;
Koch, Hans Georg

Publication type:

Article

The role of tau ( MAPT) in frontotemporal dementia and related tauopathies.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 277, doi. 10.1002/humu.20086

By:

Rademakers, R.;
Cruts, M.;
van Broeckhoven, C.

Publication type:

Article

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 351, doi. 10.1002/humu.9277

By:

Shin, Young-Kyoung;
Heo, Seung-Chul;
Shin, Joo-Ho;
Hong, Sung-Hye;
Ku, Ja-Lok;
Yoo, Byong-Chul;
Kim, Il-Jin;
Park, Jae-Gahb

Publication type:

Article

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085

By:

Iacobazzi, Vito;
Invernizzi, Federica;
Baratta, Silvia;
Pons, Roser;
Chung, Wendy;
Garavaglia, Barbara;
Dionisi-Vici, Carlo;
Ribes, Antonia;
Parini, Rossella;
Huertas, Maria Dolores;
Roldan, Susana;
Lauria, Graziantonio;
Palmieri, Ferdinando;
Taroni, Franco

Publication type:

Article