Volume 30; Issue 4

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Human Mutation
Volume 30; Issue 4

Human Mutation

Volume 30; Issue 4

1

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

Shunji Tomatsu, Adriana M. Montaño, Vu Chi Dung, Jeffrey H. Grubb, William S. Sly

Journal:

Year:

2009

Language:

english

File:

PDF, 244 KB

english, 2009

2

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome

Seiko Ohno, Futoshi Toyoda, Dimitar P Zankov, Hidetada Yoshida, Takeru Makiyama, Keiko Tsuji, Toshihiro Honda, Kazuhiko Obayashi, Hisao Ueyama, Wataru Shimizu, Yoshihiro Miyamoto, Shiro Kamakura, Hiro

Journal:

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

3

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients

Caroline Kannengiesser, Sharon Brookes, Anna Gutierrez del Arroyo, Danielle Pham, Johny Bombled, Michel Barrois, Olivier Mauffret, Marie-Françoise Avril M, Agnès Chompret, Gilbert M. Lenoir, Alain Sar

Journal:

Year:

2009

Language:

english

File:

PDF, 392 KB

english, 2009

4

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism

Éva Kereszturi, Richárd Szmola, Zoltán Kukor, Peter Simon, Frank Ulrich Weiss, Markus M. Lerch, Miklós Sahin-Tóth

Journal:

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

5

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum

Julie Deuquet, Laurence Abrami, Analisa Difeo, Maria Celeste M. Ramirez, John A. Martignetti, F. Gisou van der Goot

Journal:

Year:

2009

Language:

english

File:

PDF, 339 KB

english, 2009

6

Increasing the number of diagnostic mutations in malignant hyperthermia

Soledad Levano, Mirko Vukcevic, Martine Singer, Anja Matter, Susan Treves, Albert Urwyler, Thierry Girard

Journal:

Year:

2009

Language:

english

File:

PDF, 189 KB

english, 2009

7

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

Marianne Abifadel, Jean-Pierre Rabès, Martine Devillers, Arnold Munnich, Danièle Erlich, Claudine Junien, Mathilde Varret, Catherine Boileau

Journal:

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

8

Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo, Shannon P. Pryor, Suzanne Lenhard, Rick Kittles, David Eisenman, H. Jeffrey Kim, John Niparko, James Thomsen, Kathleen S. Arnos, Walter E. Nance, Kel

Journal:

Year:

2009

Language:

english

File:

PDF, 435 KB

english, 2009

9

Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations

Rong Lin, Xiaofeng Wang, Yi Wang, Feng Zhang, Ying Wang, Wenqing Fu, Ting Yu, Shilin Li, Momiao Xiong, Wei Huang, Li Jin

Journal:

Year:

2009

Language:

english

File:

PDF, 189 KB

english, 2009

10

The SAAPdb web resource: A large-scale structural analysis of mutant proteins

Jacob M. Hurst, Lisa E.M. McMillan, Craig T. Porter, James Allen, Adebola Fakorede, Andrew C.R. Martin

Journal:

Year:

2009

Language:

english

File:

PDF, 182 KB

english, 2009

11

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing

Abdou ElSharawy, Bernd Hundrieser, Mario Brosch, Michael Wittig, Klaus Huse, Matthias Platzer, Albert Becker, Matthias Simon, Philip Rosenstiel, Stefan Schreiber, Michael Krawczak, Jochen Hampe

Journal:

Year:

2009

Language:

english

File:

PDF, 181 KB

english, 2009

12

DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6

Olga L. Gurvich, Baijayanta Maiti, Robert B. Weiss, Gaurav Aggarwal, Michael T. Howard, Kevin M. Flanigan

Journal:

Year:

2009

Language:

english

File:

PDF, 425 KB

english, 2009

13

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

Boi-Dinh Chung, Hülya Kayserili, Minrong Ai, Jan Freudenberg, Abdullah Üzümcü, Oya Uyguner, Cynthia F. Bartels, Stefan Höning, Alfredo Ramirez, Franz-Georg Hanisch, Gudrun Nürnberg, Peter Nürnberg, Ma

Journal:

Year:

2009

Language:

english

File:

PDF, 375 KB

english, 2009

14

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

Rizwan Hamid, Joy D. Cogan, Lora K. Hedges, Eric Austin, John A Phillips III, John H. Newman, James E. Loyd

Journal:

Year:

2009

Language:

english

File:

PDF, 273 KB

english, 2009

15

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

Carlo Nobile, Roberto Michelucci, Simonetta Andreazza, Elena Pasini, Silvio C.E. Tosatto, Pasquale Striano

Journal:

Year:

2009

Language:

english

File:

PDF, 275 KB

english, 2009

16

Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations

Rebecca L. Margraf, David K. Crockett, Patti M.F. Krautscheid, Ryan Seamons, Fernanda R.O. Calderon, Carl T. Wittwer, Rong Mao

Journal:

Year:

2009

Language:

english

File:

PDF, 272 KB

english, 2009

17

Interaction between PHOX2B and CREBBP mediates synergistic activation: Mechanistic implications of PHOX2B mutants

Han-Tsang Wu, Yi-Ning Su, Chia-Cheng Hung, Wu-Shiun Hsieh, Kou-Juey Wu

Journal:

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

18

Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic

V. Polakova, B. Pardini, A. Naccarati, S. Landi, J. Slyskova, J. Novotny, L. Vodickova, J. L. Bermejo, M. Hanova, Z. Smerhovsky, E. Tulupova, R. Kumar, K. Hemminki, P. Vodicka

Journal:

Year:

2009

Language:

english

File:

PDF, 185 KB

english, 2009

19

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Picard, Anne Durandy, Angus Dobbie, Delphine Heron, Bertrand Isidor, Jacqu

Journal:

Year:

2009

Language:

english

File:

PDF, 659 KB

english, 2009

20

Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population

Vincent Ménard, Hugo Girard, Mario Harvey, Louis Pérusse, Chantal Guillemette

Journal:

Year:

2009

Language:

english

File:

PDF, 660 KB

english, 2009

21

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis

Lucia Corrado, A. Ratti, C. Gellera, E. Buratti, B. Castellotti, Y. Carlomagno, N. Ticozzi, L. Mazzini, L. Testa, F. Taroni, F. E. Baralle, V. Silani, S. D'Alfonso

Journal:

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

22

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

Matthew L. Herman, Sharifeh Farasat, Peter J. Steinbach, Ming-Hui Wei, Ousmane Toure, Philip Fleckman, Patrick Blake, Sherri J. Bale, Jorge R. Toro

Journal:

Year:

2009

Language:

english

File:

PDF, 507 KB

english, 2009

23

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sarkozy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, Maria C. Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Lepri, Valentina Petrangeli, M

Journal:

Year:

2009

Language:

english

File:

PDF, 289 KB

english, 2009

24

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, J

Journal:

Year:

2009

Language:

english

File:

PDF, 244 KB

english, 2009

25

Sharing data between LSDBs and central repositories

Johan T. den Dunnen, Rolf H. Sijmons, Paal S. Andersen, Mauno Vihinen, Jacques S. Beckmann, Sandro Rossetti, C. Conover Talbot Jr, Ross C. Hardison, Sue Povey, Richard G.H. Cotton

Journal:

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

26

Partial deletion of the MAPT gene: A novel mechanism of FTDP-17

Anne Rovelet-Lecrux, Magalie Lecourtois, Catherine Thomas-Anterion, Isabelle Le Ber, Alexis Brice, Thierry Frebourg, Didier Hannequin, Dominique Campion

Journal:

Year:

2009

Language:

english

File:

PDF, 338 KB

english, 2009

27

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale, Sylvie Odent, Vèronique David, Maximilian Muen

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

28

S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome

Oliver Vugrek, Robert Belužić, Nikolina Nakić, S. Harvey Mudd

Journal:

Year:

2009

Language:

english

File:

PDF, 477 KB

english, 2009

29

No association between CALHM1 variation and risk of Alzheimer disease

Ryan L. Minster, F. Yesim Demirci, Steven T. DeKosky, M. Ilyas Kamboh

Journal:

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

30

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population

Kristel Sleegers, Nathalie Brouwers, Karolien Bettens, Sebastiaan Engelborghs, Helen van Miegroet, Peter P De Deyn, Christine Van Broeckhoven

Journal:

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

31

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Alberto Zullo, Werner Klingler, Claudia De Sarno, Marina Ferrara, Giuliana Fortunato, Giuseppa Perrotta, Elvira Gravino, Rosella Di Noto, Frank Lehmann-Horn, Werner Melzer, Francesco Salvatore, Antone

Journal:

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

32

Data Sharing: Standards for Bioinformatic Cross-Talk

Journal:

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

33

After All, Size May Matter

Jacques Beckmann

Journal:

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

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