Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 4

Results: 12

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 299, doi. 10.1007/s004390100494

By:

Knight, Stuart W.;
Vulliamy, Tom J.;
Morgan, Ben;
Devriendt, Koen;
Mason, Philip J.;
Dokal, Inderjeet

Publication type:

Article

Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 304, doi. 10.1007/s004390100498

By:

Fröhling, Stefan;
Nakabayashi, Kazuhiko;
Scherer, Stephen W.;
Döhner, Hartmut;
Döhner, Konstanze

Publication type:

Article

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 290, doi. 10.1007/s004390100490

By:

Le Maréchal, C.;
Audrézet, M. P.;
Quéré, I.;
Raguénès, O.;
Langonné, S.;
Férec, C.

Publication type:

Article

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 356, doi. 10.1007/s004390100497

By:

Skordis, Leigh A.;
Dunckley, Matthew G.;
Burglen, Lydia;
Campbell, Louise;
Talbot, Kevin;
Patel, Shobna;
Melki, Judith;
Davies, Kay E.;
Dubowitz, Victor;
Muntoni, Francesco

Publication type:

Article

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 346, doi. 10.1007/s004390100493

By:

Yatsenko, Alexander N.;
Shroyer, Noah F.;
Lewis, Richard Alan;
Lupski, James R.

Publication type:

Article

Human Gene Mutations.

Published in:: Human Genetics, 2001, v. 108, n. 4, p. 358, doi. 10.1007/PL00008718
Publication type:: Article

Linkage of prostate cancer susceptibility loci to chromosome 1.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 335, doi. 10.1007/s004390100488

By:

Jianfeng Xu;
Zheng, Siqun L.;
Bao-li Chang;
Smith, Jeffrey R.;
Carpten, John D.;
Stine, O. Colin;
Isaacs, Sarah D.;
Wiley, Kathy E.;
Henning, Lauren;
Ewing, Charles;
Bujnovszky, Piroska;
Bleeker, Eugene R.;
Walsh, Patrick C.;
Trent, Jeffrey M.;
Meyers, Deborah A.;
Isaacs, William B.

Publication type:

Article

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 279, doi. 10.1007/s004390100477

By:

Sakamoto, Norikazu;
Yamamoto, Tetsuya;
Moriwaki, Yuji;
Teranishi, Tetsuya;
Toyoda, Masanori;
Onishi, Yutaka;
Kuroda, Shoji;
Sakaguchi, Kazuhiko;
Fujisawa, Takashi;
Maeda, Mitsuo;
Hada, Toshikazu

Publication type:

Article

Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 310, doi. 10.1007/s004390100479

By:

Basu, Priyadarshi;
Majumder, Partha P.;
Roychoudhury, Susanta;
Bhattacharyya, Nitai P.

Publication type:

Article

Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475

By:

Uimonen, Seija;
Moilanen, Jukka S.;
Sorri, Martti;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 328, doi. 10.1007/s004390100496

By:

Bareil, Corinne;
Hamel, Christian P.;
Delague, Valérie;
Arnaud, Bernard;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 318, doi. 10.1007/s004390100465

By:

Waters, Jonathan J.;
Campbell, Paul L.;
Crocker, A. J. Mark;
Campbell, Carolyn M.

Publication type:

Article