Volume 13; Issue 2

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Human Mutation
Volume 13; Issue 2

Human Mutation

Volume 13; Issue 2

1

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation

Monica Giarola, Lisa Stagi, Silvano Presciuttini, Patrizia Mondini, Maria T. Radice, Paola Sala, Marco A. Pierotti, Lucio Bertario, Paolo Radice

Journal:

Year:

1999

Language:

english

File:

PDF, 313 KB

english, 1999

2

Detection of mutations in COL4A5 in patients with Alport Syndrome

Kate E. Plant, Peter M. Green, David Vetrie, Frances A. Flinter

Journal:

Year:

1999

Language:

english

File:

PDF, 322 KB

english, 1999

3

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

Andreas R. Janecke, Moritz Meins, Mojy Sadeghi, Kathrin Grundmann, Eckart Apfelstedt-Sylla, Eberhart Zrenner, Thomas Rosenberg, Andreas Gal

Journal:

Year:

1999

Language:

english

File:

PDF, 355 KB

english, 1999

4

Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

Katherine L. Dry, Forbes D.C. Manson, Alan Lennon, Arthur A.B. Bergen, Dieuwke B. Van Dorp, Alan F. Wright

Journal:

Year:

1999

Language:

english

File:

PDF, 332 KB

english, 1999

5

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor

Angela S. Barbosa, Charalambos G. Hadjiathanasiou, Charalambos Theodoridis, Astéroula Papathanasiou, Attila Tar, Miklós Merksz, Borbála Györvári, Charles Sultan, Robert Dumas, Francis Jaubert, Patrick

Journal:

Year:

1999

Language:

english

File:

PDF, 464 KB

english, 1999

6

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

Alison T. Merryweather-Clarke, Henrik Siimonsen, Jeremy D. Shearman, Jennifer J. Pointon, Bent Nørgaard-Pedersen, Kathryn J.H. Robson

Journal:

Year:

1999

Language:

english

File:

PDF, 274 KB

english, 1999

7

Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

J.M. Montejo, M. Magallón, E. Tizzano, J. Solera

Journal:

Year:

1999

Language:

english

File:

PDF, 293 KB

english, 1999

8

A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs

V. Strelnikov, M. Nemtsova, G. Chesnokova, N. Kuleshov, D. Zaletayev

Journal:

Year:

1999

Language:

english

File:

PDF, 236 KB

english, 1999

9

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers

Andréa L. Sertié, Christina Brahe, M. Rita Passos-Bueno

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

10

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy

Makoto Ikezawa, Ichizo Nishino, Yu-ichi Goto, Teruhisa Miike, Ikuya Nonaka

Journal:

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

11

Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay

C. Andreutti-Zaugg, A. Couturier, P. Chappuis, P. Hutter

Journal:

Year:

1999

Language:

english

File:

PDF, 24 KB

english, 1999

12

Identification of eleven novel tumor-associated e-cadherin mutations

Karl-Friedrich Becker, Ulrike Reich, Christina Schott, Ingrid Becker, Geert Berx, Frans van Roy, Heinz Höfler

Journal:

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

13

Identification of the mutation in the alkaptonuria mouse model

Kara Manning, José M. Fernández-Cañón, Xavier Montagutelli, Markus Grompe

Journal:

Year:

1999

Language:

english

File:

PDF, 54 KB

english, 1999

14

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

A. Taillandier, L. Zurutuza, F. Muller, B. Simon-Bouy, J.L. Serre, L. Bird, R. Brenner, O. Boute, J. Cousin, D. Gaillard, P.H. Heidemann, B. Steinmann, M. Wallot, E. Mornet

Journal:

Year:

1999

Language:

english

File:

PDF, 20 KB

english, 1999

15

Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis

Selma F. Witchel, Rhonda Smith, Makiko Suda-Hartman

Journal:

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

16

A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones

Raymond K.B. Dang, Robert S. Anthony, Jenny I.O. Craig, Alastair C. Parker

Journal:

Year:

1999

Language:

english

File:

PDF, 22 KB

english, 1999

17

Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified

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

Journal:

Year:

1999

Language:

english

File:

PDF, 38 KB

english, 1999

18

Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement

Luigi Picci, Marilena Cameran, Paola Olante, Franco Zacchello, Maurizio Scarpa

Journal:

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

19

Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure

Christèle Dubourg, Sylvie Odent, Patricia Fergelot, Jean-Yves Le Gall, Véronique David, Martine Blayau

Journal:

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

20

Identification of a mutation in the human raloxifene response element of the transforming growth factor-β 3 gene

Ki Ok Han, Young Soon Kang, In Gul Moon, Ho Yeon Chung, Hyun Koo Yoon, In Kwon Han, In Myung Yang, Young Kil Choi

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

21

Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome

Scott C. Wildenberg, James P. Fryer, William S. Oetting, Richard A. King

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

22

Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis

Shirly G. Panicker, Joshua T. Mendell, Lei Chen, Bo Feng, Zarife Sahenk, George A. Marzluf, Anthony A. Amato, Jerry R. Mendell

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

23

Human genetic diseases of proteolysis

Gregory J. Kato

Journal:

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

24

Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

William S. Oetting, Richard A. King

Journal:

Year:

1999

Language:

english

File:

PDF, 481 KB

english, 1999

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