Volume 26; Issue 6

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Human Mutation
Volume 26; Issue 6

Human Mutation

Volume 26; Issue 6

1

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome

Kathrin Rommel, Matthias Karck, Axel Haverich, Yskert von Kodolitsch, Meike Rybczynski, Götz Müller, Krishna K. Singh, Jörg Schmidtke, Mine Arslan-Kirchner

Journal:

Year:

2005

Language:

english

File:

PDF, 180 KB

english, 2005

2

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

Matthew R.G. Taylor, Dobromir Slavov, Andreas Gajewski, Sylvia Vlcek, Lisa Ku, Pamela R. Fain, Elisa Carniel, Andrea Di Lenarda, Gianfranco Sinagra, Mark M. Boucek, Jean Cavanaugh, Sharon L. Graw, Pat

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Year:

2005

Language:

english

File:

PDF, 429 KB

english, 2005

3

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, Steffan Loff, Walter Back, Constanze Pagenstecher, D. Ross McLeod, Gail E. Graham, Elisabeth Mangold, René Santer, Peter Propping, Waltraut Friedl

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Year:

2005

Language:

english

File:

PDF, 235 KB

english, 2005

4

Mutation rates at Y chromosome specific microsatellites

L. Gusmão, P. Sánchez-Diz, F. Calafell, P. Martín, C.A. Alonso, F. Álvarez-Fernández, C. Alves, L. Borjas-Fajardo, W.R. Bozzo, M.L. Bravo, J.J. Builes, J. Capilla, M. Carvalho, C. Castillo, C.I. Catan

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Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

5

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Patrick G. Buckley, Kiran K. Mantripragada, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, Caisa M. Hansson, Hajnalka Kiss, David Vetrie, Ingemar T. Ernberg, Magnus Nordenskjöld, Lars Bolund, Markku Sa

Journal:

Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

6

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

Sigrid W. Fouchier, John J.P. Kastelein, Joep C. Defesche

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Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

7

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Shunji Tomatsu, Adriana M. Montaño, Tatsuo Nishioka, Monica A. Gutierrez, Olga M. Peña, Georgeta G. Tranda firescu, Patricia Lopez, Seiji Yamaguchi, Akihiko Noguchi, Tadao Orii

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Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

8

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers

Regina Kroiss, Verena Winkler, Diana Bikas, Elisabeth Fleischmann, Claudia Mainau, Florian Frommlet, Daniela Muhr, Christine Fuerhauser, Maria Tea, Barbara Bittner, Ernst Kubista, Peter J. Oefner, Pet

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Year:

2005

Language:

english

File:

PDF, 163 KB

english, 2005

9

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

Silke Sperling, Christina H. Grimm, Ilona Dunkel, Siegrun Mebus, Hans-Peter Sperling, Arno Ebner, Raffaello Galli, Hans Lehrach, Christoph Fusch, Felix Berger, Stefanie Hammer

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Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

10

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Sally L. Cotterill, Gail C. Jackson, Matthew P. Leighton, Raimund Wagener, Outi Mäkitie, William G. Cole, Michael D. Briggs

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Year:

2005

Language:

english

File:

PDF, 332 KB

english, 2005

11

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff,

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Year:

2005

Language:

english

File:

PDF, 69 KB

english, 2005

12

Toward a Human Variome Project

Richard G.H. Cotton, Haig H. Kazazian Jr.

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Year:

2005

Language:

english

File:

PDF, 59 KB

english, 2005

13

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

E. Kalay, A. Karaguzel, R. Caylan, A. Heister, F.P.M. Cremers, C.W.R.J. Cremers, H.G. Brunner, A.P.M. de Brouwer, H. Kremer

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Year:

2005

Language:

english

File:

PDF, 313 KB

english, 2005

14

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

Gideon Bach, Michael B.T. Webb, Ruth Bargal, Marcia Zeigler, Joseph Ekstein

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Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

15

Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathild

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Year:

2005

File:

PDF, 18 KB

2005

16

Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T

Paula M. Hempen, Harsha Kurpad, Eric S. Calhoun, Susan Abraham, Scott E. Kern

Journal:

Year:

2005

Language:

english

File:

PDF, 22 KB

english, 2005

17

Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, Fran

Journal:

Year:

2005

File:

PDF, 19 KB

2005

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