Volume 26; Issue 5

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Human Mutation
Volume 26; Issue 5

Human Mutation

Volume 26; Issue 5

1

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders

William J. Kimberling

Journal:

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

2

Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies

George P. Patrinos, Panagoula Kollia, Manoussos N. Papadakis

Journal:

Year:

2005

Language:

english

File:

PDF, 404 KB

english, 2005

3

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

Nicole Monnier, Geneviève Kozak-Ribbens, Renée Krivosic-Horber, Yves Nivoche, Dong Qi, Natasha Kraev, Julian Loke, Parveen Sharma, Vincenzo Tegazzin, Dominique Figarella-Branger, Norma Roméro, Paulett

Journal:

Year:

2005

Language:

english

File:

PDF, 549 KB

english, 2005

4

Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression

P. Albrecht, B. Ansperger-Rescher, A. Schüler, M. Zeschnigk, B. Gallie, D.R. Lohmann

Journal:

Year:

2005

Language:

english

File:

PDF, 589 KB

english, 2005

5

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Renata Bocciardi, Roberto Giorda, Valeria Marigo, Paola Zordan, Donatella Montanaro, Stefania Gimelli, Marco Seri, Margherita Lerone, Roberto Ravazzolo, Giorgio Gimelli

Journal:

Year:

2005

Language:

english

File:

PDF, 529 KB

english, 2005

6

Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs

Maxim Barenboim, D. Curtis Jamison, Iosif I. Vaisman

Journal:

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

7

Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency

F. Peyvandi, I. Garagiola, R. Palla, N. Marziliano, P. M. Mannucci

Journal:

Year:

2005

Language:

english

File:

PDF, 330 KB

english, 2005

8

Predicting the oncogenicity of missense mutations reported in the International Agency for Cancer Research (IARC) mutation database on p53

Ivan P. Gorlov, Olga Y. Gorlova, Christopher I. Amos

Journal:

Year:

2005

Language:

english

File:

PDF, 321 KB

english, 2005

9

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay

Emma L. Northrop, Hua Ren, Damien L. Bruno, James D. R. McGhie, Jordi Coffa, Jan Schouten, K. H. Andy Choo, Howard R. Slater

Journal:

Year:

2005

Language:

english

File:

PDF, 513 KB

english, 2005

10

Locus-specific databases: from ethical principles to practice

Richard G. H. Cotton, Clémentine Sallée, Bartha M. Knoppers

Journal:

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

11

Expression of NF1 pseudogenes

Haijing Yu, Xiangyi Zhao, Bing Su, Dianming Li, Yanhua Xu, Songjiao Luo, Chunjie Xiao, Wen Wang

Journal:

Year:

2005

Language:

english

File:

PDF, 95 KB

english, 2005

12

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Clara Malattia, Andrea Pilotto, Emanuele Porcu, Eliana Disabella, Nicola Marziliano, Angela Pisani, Luca Lanzarini, Savina Mannarino, Daniela Larizza

Journal:

Year:

2005

Language:

english

File:

PDF, 321 KB

english, 2005

13

Genetic variant characterization in intron 4 of the surfactant protein B gene

Aaron Hamvas, Daniel J. Wegner, Michelle A. Trusgnich, Katherine Madden, Hillary Heins, Ying Liu, Treva Rice, Ping An, Julie Watkins-Torry, F. Sessions Cole

Journal:

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

14

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families

A. A. Tesoriero, E. M. Wong, M. A. Jenkins, J. L. Hopper, kConFab, M. A. Brown, G. Chenevix-Trench, A. B. Spurdle, M. C. Southey

Journal:

Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

15

Erratum: the mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg, Frank Rutsch

Journal:

Year:

2005

Language:

english

File:

PDF, 20 KB

english, 2005

16

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria

Elena Pischik, Susanna Mehtälä, Raili Kauppinen

Journal:

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

17

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

Marc Trimborn, Reyk Richter, Nadine Sternberg, Ioannis Gavvovidis, Detlev Schindler, Andrew P. Jackson, Eva-Christina Prott, Karl Sperling, Gabriele Gillessen-Kaesbach, Heidemarie Neitzel

Journal:

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

18

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

Journal:

Year:

2005

Language:

english

File:

PDF, 254 KB

english, 2005

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