Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 1

Results: 17

Glycerol kinase deficiency: Evidence for complexity in a single gene disorder.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 55, doi. 10.1007/s004390100545

By:

Dipple, K. M.;
Zhang, Y.-H.;
Huang, B.-L.;
McCabe, L. L.;
Dallongeville, J.;
Inokuchi, T.;
Kimura, M.;
Marx, H. J.;
Roederer, G. O.;
Shih, V.;
Yamaguchi, S.;
Yoshida, I.;
McCabe, E. R. B.

Publication type:

Article

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 48, doi. 10.1007/s004390100536

By:

Bentivegna, A.;
Venturin, M.;
Gervasini, C.;
Corrado, L.;
Larizza, L.;
Riva, P.

Publication type:

Article

A molecular approach to dominance in hypophosphatasia.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 99, doi. 10.1007/s004390100546

By:

Lia-Baldini, A. S.;
Muller, F.;
Taillandier, A.;
Gibrat, J. F.;
Mouchard, M.;
Robin, B.;
Simon-Bouy, B.;
Serre, J. L.;
Aylsworth, A. S.;
Bieth, E.;
Delanote, S.;
Freisinger, P.;
Hu, J. C.-C.;
Krohn, H.-P.;
Nunes, M. E.;
Mornet, E.

Publication type:

Article

Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 7, doi. 10.1007/s004390100523

By:

Martínez-Arias, Rosa;
Mateu, Eva;
Bertranpetit, Jaume;
Calafell, Francesc

Publication type:

Article

"Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 85, doi. 10.1007/s004390100535

By:

Müller, S.;
Wienberg, J.

Publication type:

Article

Nomenclature for the description of human sequence variations.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 121, doi. 10.1007/s004390100505

By:

den Dunnen, J. T.;
Antonarakis, E.

Publication type:

Article

Chimpanzee apolipoprotein H (β<sub>2</sub>-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 63, doi. 10.1007/s004390100549

By:

Sanghera, D. K.;
Nestlerode, C. S.;
Ferrell, R. E.;
Kamboh, M. I.

Publication type:

Article

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 33, doi. 10.1007/s004390100538

By:

Brown, Michael D.;
Zhadanov, Sergei;
Allen, Jon C.;
Hosseini, Seyed;
Newman, Nancy J.;
Atamonov, Vasily V.;
Mikhailovskaya, Irina E.;
Sukernik, Rem I.;
Wallace, Douglas C.

Publication type:

Article

Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 109, doi. 10.1007/s004390100543

By:

Luijten, Mirjam;
Redeker, Sandra;
Minoshima, Shinsei;
Shimizu, Nobuyoshi;
Westerveld, Andries;
Hulsebos, Theo J. M.

Publication type:

Article

Frequency of replication/transcription errors in (A)/(T) runs of human genes.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 40, doi. 10.1007/s004390100541

By:

Paoloni-Giacobino, A.;
Rossier, C.;
Papasavvas, M. P.;
Antonarakis, S. E.

Publication type:

Article

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 24, doi. 10.1007/s004390100531

By:

Ribeiro, Isaura;
Marcão, Ana;
Amaral, Olga;
Miranda, Maria Clara Sá;
Vanier, Marie T.;
Millat, Gilles

Publication type:

Article

Population-based risk estimates of Wilms tumor in sporadic aniridia: A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 11, doi. 10.1007/s004390100529

By:

Grønskov, Karen;
Olsen, Jørgen H.;
Sand, Annie;
Pedersen, Winni;
Carlsen, Niels;
Jylling, Anne Marie Bak;
Lyngbye, Troels;
Brøndum-Nielsen, Karen;
Rosenberg, Thomas

Publication type:

Article

A polymorphism in the promoter region of catalase is associated with blood pressure levels.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 95, doi. 10.1007/s004390100553

By:

Zhengwen Jiang;
Akey, Joshua M.;
Jinxiu Shi;
Momiao Xiong;
Ying Wang;
Yayun Shen;
Xiaoyun Xu;
Hua Chen;
Hong Wu;
Junhua Xiao;
Daru Lu;
Wei Huang;
Li Jin

Publication type:

Article

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 73, doi. 10.1007/s004390100547

By:

Sironi, Manuela;
Pozzoli, Uberto;
Cagliani, Rachele;
Comi, Giacomo P.;
Bardoni, Alessandra;
Bresolin, Nereo

Publication type:

Article

Genetic basis of mitochondrial HMG-CoA synthase deficiency.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 19, doi. 10.1007/s004390100554

By:

Aledo, Rosa;
Zschocke, Johannes;
Pií, Juan;
Mir, Cecilia;
Fiesel, Sonja;
Mayatepek, Ertan;
Hoffmann, Georg F.;
Casals, Núria;
Hegardt, Fausto G.

Publication type:

Article

Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 117, doi. 10.1007/s004390100540

By:

Trbuśek, Martin;
Francová, Hana;
Kozák, Libor

Publication type:

Article

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 1, doi. 10.1007/s004390100537

By:

Orioli, Iêda M.;
Castilla, Eduardo E.;
Ming, Jeffrey E.;
Nazer, Julio;
Burle de Aguiar, Marcos J.;
Llerena, Juan C.;
Muenke, Maximilian

Publication type:

Article