Volume 33; Issue 2

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Human Mutation
Volume 33; Issue 2

Human Mutation

Volume 33; Issue 2

1

Curating gene variant databases (LSDBs): Toward a universal standard

Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

2

Hansa: An automated method for discriminating disease and neutral human nsSNPs

Vishal Acharya, Hampapathalu A. Nagarajaram

Journal:

Year:

2012

Language:

english

File:

PDF, 154 KB

english, 2012

3

FZD6 is a novel gene for human neural tube defects

Patrizia De Marco, Elisa Merello, Andrea Rossi, Gianluca Piatelli, Armando Cama, Zoha Kibar, Valeria Capra

Journal:

Year:

2012

Language:

english

File:

PDF, 332 KB

english, 2012

4

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

Antje M. Zickler, Stephanie Hampp, Ludwine Messiaen, Kathrin Bengesser, Tanja Mussotter, Angelika C. Roehl, Katharina Wimmer, Victor-Felix Mautner, Lan Kluwe, Meena Upadhyaya, Eric Pasmant, Nadia Chuz

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

5

Identification of autosomal recessive disease loci using out-bred nuclear families

Ian M. Carr, Christine P. Diggle, Nader Touqan, Rashida Anwar, Eamonn G. Sheridan, David T. Bonthron, Colin A. Johnson, Manir Ali, Alexander F. Markham

Journal:

Year:

2012

Language:

english

File:

PDF, 255 KB

english, 2012

6

Guidelines for establishing locus specific databases

Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton

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Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

7

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina,

Journal:

Year:

2012

Language:

english

File:

PDF, 383 KB

english, 2012

8

A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens

Xiao-Qiao Li, Hong-Chen Cai, Shi-Yi Zhou, Ju-Hua Yang, Yi-Bo Xi, Xiao-Bo Gao, Wei-Jie Zhao, Peng Li, Guang-Yu Zhao, Yi Tong, Fan-Chen Bao, Yan Ma, Sha Wang, Yong-Bin Yan, Cai-Ling Lu, Xu Ma

Journal:

Year:

2012

Language:

english

File:

PDF, 593 KB

english, 2012

9

Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

Céline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, Mylène Béri-Dexheimer, Patrick Callier, Francine Mugneret, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Philippe Jonveaux

Journal:

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

10

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher AlAhmed, Saeed Bohlega

Journal:

Year:

2012

Language:

english

File:

PDF, 244 KB

english, 2012

11

The COL7A1 mutation database

Katarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak, Jerzy Bal

Journal:

Year:

2012

Language:

english

File:

PDF, 208 KB

english, 2012

12

CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population

Hiroko Morisaki, Itaru Yamanaka, Naoharu Iwai, Yoshihiro Miyamoto, Yoshihiro Kokubo, Tomonori Okamura, Akira Okayama, Takayuki Morisaki

Journal:

Year:

2012

Language:

english

File:

PDF, 244 KB

english, 2012

13

CRB1 mutations in inherited retinal dystrophies

Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier,

Journal:

Year:

2012

Language:

english

File:

PDF, 446 KB

english, 2012

14

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation

Elena J. Tucker, Masakazu Mimaki, Alison G. Compton, Matthew McKenzie, Michael T. Ryan, David R. Thorburn

Journal:

Year:

2012

Language:

english

File:

PDF, 448 KB

english, 2012

15

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations

Gonzalo L. Vilas, Sampath K. Loganathan, Anita Quon, Periasamy Sundaresan, Eranga N. Vithana, Joseph Casey

Journal:

Year:

2012

Language:

english

File:

PDF, 295 KB

english, 2012

16

Protein–protein interaction sites are hot spots for disease-associated nonsynonymous SNPs

Alessia David, Rozami Razali, Mark N. Wass, Michael J.E. Sternberg

Journal:

Year:

2012

Language:

english

File:

PDF, 199 KB

english, 2012

17

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

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Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

18

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

Tayebeh Soheili, Evelyne Gicquel, Jérôme Poupiot, Luu N'Guyen, Florence Le Roy, Marc Bartoli, Isabelle Richard

Journal:

Year:

2012

Language:

english

File:

PDF, 511 KB

english, 2012

19

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Roeland Huijgen, Barbara Sjouke, Kelly Vis, Janine S.E. de Randamie, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Sigrid W. Fouchier

Journal:

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

20

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol Clericuzio, Géraldine Viot, Julia Tantau, Sophie Blesson, Sylvie Cloarec, Mari

Journal:

Year:

2012

Language:

english

File:

PDF, 309 KB

english, 2012

21

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E. Stevenson, Nicholas D.E. Greene, Andrew J. Copp, Philip Stanier

Journal:

Year:

2012

Language:

english

File:

PDF, 412 KB

english, 2012

22

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon

Szilvia Solyom, Adam D. Ewing, Dustin C. Hancks, Yasuhiro Takeshima, Hiroyuki Awano, Masafumi Matsuo, Haig H. Kazazian Jr

Journal:

Year:

2012

Language:

english

File:

PDF, 201 KB

english, 2012

23

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Bernhard Steiner, Jonas Rosendahl, Heiko Witt, Niels Teich, Volker Keim, Hans-Ulrich Schulz, Roland Pfützer, Matthias Löhr, Thomas M. Gress, Renate Nickel, Olfert Landt, Monika Koudova, Milan Macek Jr

Journal:

Year:

2012

Language:

english

File:

PDF, 85 KB

english, 2012

24

Planar cell polarity gene mutations in severe neural tube defects

Journal:

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

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