Works in Human Mutation, 2012, Vol 33, Issue 2

Results: 24

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 402, doi. 10.1002/humu.21652

By:

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

Publication type:

Article

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 369, doi. 10.1002/humu.21663

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 338, doi. 10.1002/humu.21645

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 359, doi. 10.1002/humu.21656

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 456, doi. 10.1002/humu.22006

By:

Steiner, Bernhard;
Rosendahl, Jonas;
Witt, Heiko;
Teich, Niels;
Keim, Volker;
Schulz, Hans-Ulrich;
Pfützer, Roland;
Löhr, Matthias;
Gress, Thomas M.;
Nickel, Renate;
Landt, Olfert;
Koudova, Monika;
Macek Jr, Milan;
Farre, Antoni;
Casals, Teresa;
Desax, Marie-Claire;
Gallati, Sabina;
Gomez-Lira, Macarena;
Audrezet, Marie Pierre;
Férec, Claude

Publication type:

Article

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.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 355, doi. 10.1002/humu.21649

By:

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

Publication type:

Article

The COL7A1 mutation database.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 327, doi. 10.1002/humu.21651

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 440, doi. 10.1002/humu.21662

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 372, doi. 10.1002/humu.21644

By:

Zickler, Antje M.;
Hampp, Stephanie;
Messiaen, Ludwine;
Bengesser, Kathrin;
Mussotter, Tanja;
Roehl, Angelika C.;
Wimmer, Katharina;
Mautner, Victor-Felix;
Kluwe, Lan;
Upadhyaya, Meena;
Pasmant, Eric;
Chuzhanova, Nadia;
Kestler, Hans A.;
Högel, Josef;
Legius, Eric;
Claes, Kathleen;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 419, doi. 10.1002/humu.21655

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 291, doi. 10.1002/humu.21626

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 391, doi. 10.1002/humu.21648

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 343, doi. 10.1002/humu.21647

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 351, doi. 10.1002/humu.21650

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 316, doi. 10.1002/humu.21661

By:

Gribouval, Olivier;
Morinière, Vincent;
Pawtowski, Audrey;
Arrondel, Christelle;
Sallinen, Satu-Leena;
Saloranta, Carola;
Clericuzio, Carol;
Viot, Géraldine;
Tantau, Julia;
Blesson, Sophie;
Cloarec, Sylvie;
Machet, Marie Christine;
Chitayat, David;
Thauvin, Christelle;
Laurent, Nicole;
Sampson, Julian R.;
Bernstein, Jonathan A;
Clemenson, Alix;
Prieur, Fabienne;
Daniel, Laurent

Publication type:

Article

FZD6 is a novel gene for human neural tube defects.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 384, doi. 10.1002/humu.21643

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 411, doi. 10.1002/humu.21654

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 429, doi. 10.1002/humu.21659

By:

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

Publication type:

Article

Planar cell polarity gene mutations in severe neural tube defects.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. v, doi. 10.1002/humu.22568

By:

Juriloff, Diana

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 448, doi. 10.1002/humu.21660

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 332, doi. 10.1002/humu.21642

By:

Acharya, Vishal;
Nagarajaram, Hampapathalu A.

Publication type:

Article

CRB1 mutations in inherited retinal dystrophies.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 306, doi. 10.1002/humu.21653

By:

Bujakowska, Kinga;
Audo, Isabelle;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Antonio, Aline;
Germain, Aurore;
Léveillard, Thierry;
Letexier, Mélanie;
Saraiva, Jean-Paul;
Lonjou, Christine;
Carpentier, Wassila;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

Guidelines for establishing locus specific databases.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 298, doi. 10.1002/humu.21646

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 364, doi. 10.1002/humu.21658

By:

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

Publication type:

Article