Volume 109; Issue 1

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Human Genetics
Volume 109; Issue 1

Human Genetics

Volume 109; Issue 1

1

Nomenclature for the description of human sequence variations

Dunnen, J. den, S., Antonarakis

Journal:

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

2

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

Mart&#x000ED, nez-Arias, Rosa, Mateu, Eva, Bertranpetit, Jaume, Calafell, Francesc

Journal:

Year:

2001

Language:

english

File:

PDF, 33 KB

english, 2001

3

Population-based risk estimates of Wilms tumor in sporadic aniridia

Gr&#x000F8, nskov, Karen, Olsen, J&#x000F8, rgen, Sand, Annie, Pedersen, Winni, Carlsen, Niels, Jylling, Anne, Lyngbye, Troels, Br&#x000F8, ndum-Nielsen, Karen, Rosenberg, Thomas

Journal:

Year:

2001

Language:

english

File:

PDF, 136 KB

english, 2001

4

Niemann-Pick type C disease:NPC1mutations associated with severe and mild cellular cholesterol trafficking alterations

Ribeiro, Isaura, Marc&#x000E3, o, Ana, Amaral, Olga, S&#x000E1, Miranda, Maria, Vanier, Marie, Millat, Gilles

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

5

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

S., M&#x000FC, ller, J., Wienberg

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Year:

2001

Language:

english

File:

PDF, 368 KB

english, 2001

6

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

7

Identification of novel mutations inSHHandZIC2in a South American (ECLAMC) population with holoprosencephaly

Orioli, I&#x000EA, da, Castilla, Eduardo, Ming, Jeffrey, Nazer, Julio, Burle de Aguiar, Marcos, Llerena, Juan, Muenke, Maximilian

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

8

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families

Brown, Michael, Zhadanov, Sergei, Allen, Jon, Hosseini, Seyed, Newman, Nancy, Atamonov, Vasily, Mikhailovskaya, Irina, Sukernik, Rem, Wallace, Douglas

Journal:

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

9

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

Trbu&#x00161, ek, Martin, Francov&#x000E1, , Hana, Koz&#x000E1, k, Libor

Journal:

Year:

2001

Language:

english

File:

PDF, 34 KB

english, 2001

10

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 112 KB

english, 2001

11

Duplication and transposition of theNF1pseudogene regions on chromosomes

Redeker, Sandra, Minoshima, Shinsei, Shimizu, Nobuyoshi, Westerveld, Andries, Hulsebos, Theo, Luijten, Mirjam

Journal:

Year:

2001

Language:

english

File:

PDF, 162 KB

english, 2001

12

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

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.

Journal:

Year:

2001

Language:

english

File:

PDF, 109 KB

english, 2001

13

A molecular approach to dominance in hypophosphatasia

A., Taillandier, J., Gibrat, M., Mouchard, B., Robin, B., Simon-Bouy, J., Serre, A., Aylsworth, E., Bieth, A., Lia-Baldini, F., Muller

Journal:

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

14

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 226 KB

english, 2001

15

Glutamine repeats and neurodegenerative diseases: molecular aspects

Quarrell, Oliver

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Year:

2001

Language:

english

File:

PDF, 13 KB

english, 2001

16

Chimpanzee apolipoprotein

D., Sanghera, C., Nestlerode, R., Ferrell, M., Kamboh

Journal:

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

17

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

Jiang, Zhengwen, Akey, Joshua, Shi, Jinxiu, Xiong, Momiao, Wang, Ying, Shen, Yayun, Xu, Xiaoyun, Chen, Hua, Wu, Hong, Xiao, Junhua

Journal:

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

18

Genetic basis of mitochondrial HMG-CoA synthase deficiency

Aledo, Rosa, Zschocke, Johannes, Pi&#x000E9, , Juan, Mir, Cecilia, Fiesel, Sonja, Mayatepek, Ertan, Hoffmann, Georg, Casals, N&#x000FA, ria, Hegardt, Fausto

Journal:

Year:

2001

Language:

english

File:

PDF, 109 KB

english, 2001