Volume 27; Issue 11

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Human Mutation
Volume 27; Issue 11

Human Mutation

Volume 27; Issue 11

1

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites

John Christodoulou, Hugh J. Craig, David C. Walker, Linda S. Weaving, Christopher E. Pearson, Roderick R. McInnes

Journal:

Year:

2006

Language:

english

File:

PDF, 371 KB

english, 2006

2

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs

Abdou ElSharawy, Carl Manaster, Markus Teuber, Philip Rosenstiel, Ruta Kwiatkowski, Klaus Huse, Matthias Platzer, Albert Becker, Peter Nürnberg, Stefan Schreiber, Jochen Hampe

Journal:

Year:

2006

Language:

english

File:

PDF, 281 KB

english, 2006

3

Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA

Eduardo Ruiz-Pesini, Douglas C. Wallace

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Year:

2006

Language:

english

File:

PDF, 547 KB

english, 2006

4

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot-Noël, Haluk Topaloglu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi H

Journal:

Year:

2006

Language:

english

File:

PDF, 507 KB

english, 2006

5

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness

Juan R. González, Wenyi Wang, Ester Ballana, Xavier Estivill

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Year:

2006

Language:

english

File:

PDF, 204 KB

english, 2006

6

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

Kyu-Seon Oh, Sikandar G. Khan, N.G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Lehmann, Peter S. Friedmann, Steffen Emmert, Alexi Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C. Baker, Kenneth H

Journal:

Year:

2006

Language:

english

File:

PDF, 417 KB

english, 2006

7

MUT-TP53: a versatile matrix for TP53 mutation verification and publication

Thierry Soussi, Jean Michel Rubio-Nevado, Chikashi Ishioka

Journal:

Year:

2006

Language:

english

File:

PDF, 224 KB

english, 2006

8

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing

Eva Pros, Sara Larriba, Eva López, Anna Ravella, M. Lluïsa Gili, Helena Kruyer, Joan Valls, Eduard Serra, Conxi Lázaro

Journal:

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

9

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments

Marianne Stef, Delphine Simon, Ingrid Burgelin, Isabelle Guisle, Catherine Chevalier, Marie-Ange Delrue, Didier Lacombe, Jean Léger, Benoît Arveiler

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Year:

2006

Language:

english

File:

PDF, 328 KB

english, 2006

10

Long contiguous stretches of homozygosity in the human genome

Ling-Hui Li, Sheng-Feng Ho, Chien-Hsiun Chen, Chun-Yu Wei, Wan-Ching Wong, Li-Ying Li, Shuen-Iu Hung, Wen-Hung Chung, Wen-Han Pan, Ming-Ta M. Lee, Fuu-Jen Tsai, Ching-Fen Chang, Jer-Yuarn Wu, Yuan-Tso

Journal:

Year:

2006

Language:

english

File:

PDF, 230 KB

english, 2006

11

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066–6T>G (IVS10–6T>G) from the Breast Cancer Family Registry

J.L. Bernstein, S. Teraoka, M.C. Southey, M.A. Jenkins, I.L. Andrulis, J.A. Knight, E.M. John, R. Lapinski, A.L. Wolitzer, A.S. Whittemore, D. West, D. Seminara, E.R. Olson, A.B. Spurdle, G. Chenevix-

Journal:

Year:

2006

Language:

english

File:

PDF, 177 KB

english, 2006

12

Long-range PCR facilitates the identification of PMS2-specific mutations

Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, Annika Lindblom, Jan Lockman, Mef Nilbert, Leigha Senter, Kaisa Sotamaa, Albert de la Chapelle

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Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

13

High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott, Martin P. Snead

Journal:

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

14

Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2

Mark M. Awad, Darshan Dalal, Crystal Tichnell, Cynthia James, April Tucker, Theodore Abraham, Philip J. Spevak, Hugh Calkins, Daniel P. Judge

Journal:

Year:

2006

Language:

english

File:

PDF, 447 KB

english, 2006

15

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

Cindy Krause, Hendrik Rosewich, Melissa Thanos, Jutta Gärtner

Journal:

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

16

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

Nira Schreyer-Shafir, Marjan Huizing, Yair Anikster, Ziva Nusinker, Idit Bejarano-Achache, Genia Maftzir, Luba Resnik, Amanda Helip-Wooley, Wendy Westbroek, Libe Gradstein, Ada Rosenmann, Anat Blumenf

Journal:

Year:

2006

Language:

english

File:

PDF, 528 KB

english, 2006

17

Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment

B. Haack, K. Schmalisch, M. Palmada, C. Böhmer, N. Kohlschmidt, A. Keilmann, U. Zechner, A. Limberger, S. Beckert, H.P. Zenner, F. Lang, S. Kupka

Journal:

Year:

2006

Language:

english

File:

PDF, 284 KB

english, 2006

18

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro

Gu-Hwan Kim, Jin-Ho Choi, Hyung-Haon Lee, Sangwook Park, Sung-Su Kim, Han-Wook Yoo

Journal:

Year:

2006

Language:

english

File:

PDF, 148 KB

english, 2006

19

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

Ada Repiso, Baldomero Oliva, Joan-Lluis Vives-Corrons, Ernest Beutler, José Carreras, Fernando Climent

Journal:

Year:

2006

Language:

english

File:

PDF, 341 KB

english, 2006

20

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases

Lorne Lonie, Daniel E. Porter, Maria Fraser, Trevor Cole, Carol Wise, Laura Yates, Emma Wakeling, Ed Blair, Eva Morava, Anthony P. Monaco, Jiannis Ragoussis

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Year:

2006

Language:

english

File:

PDF, 167 KB

english, 2006

21

Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene

Véronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, Marc Fouassier, Corinne Frere, Michèle Goualt-Heilman, Emmanuel de Maistre, Sandra Regina, Lucia Rugeri, Catherine Ternisien, Catherine

Journal:

Year:

2006

Language:

english

File:

PDF, 20 KB

english, 2006