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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2268, doi. 10.1002/acn3.52127
By:
- Mohan, Shruthi;
- McNulty, Shannon;
- Thaxton, Courtney;
- Elnagheeb, Marwa;
- Owens, Emma;
- Flowers, May;
- Nunnery, Teagan;
- Self, Autumn;
- Palus, Brooke;
- Gorokhova, Svetlana;
- Kennedy, April;
- Niu, Zhiyv;
- Johari, Mridul;
- Maiga, Alassane Baneye;
- Macalalad, Kelly;
- Clause, Amanda R.;
- Beckmann, Jacques S.;
- Bronicki, Lucas;
- Cooper, Sandra T.;
- Ganesh, Vijay S.
Publication type:
Article
Trick or treat: The effect of placebo on the power of pharmacogenetic association studies.
Published in:
Human Genomics, 2005, v. 2, n. 1, p. 28, doi. 10.1186/1479-7364-2-1-28
By:
- Singer, Clara;
- Grossman, Iris;
- Avidan, Nili;
- Beckmann, Jacques S.;
- Pe'er, Itsik
Publication type:
Article
Methods for testing association between uncertain genotypes and quantitative traits.
Published in:
Biostatistics, 2011, v. 12, n. 1, p. 1, doi. 10.1093/biostatistics/kxq039
By:
- Kutalik, Zoltán;
- Johnson, Toby;
- Bochud, Murielle;
- Mooser, Vincent;
- Vollenweider, Peter;
- Waeber, Gérard;
- Waterworth, Dawn;
- Beckmann, Jacques S.;
- Bergmann, Sven
Publication type:
Article
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A.
Published in:
Nature Medicine, 1999, v. 5, n. 5, p. 503, doi. 10.1038/8385
By:
- Baghdiguian, Stephen;
- Martin, Marianne;
- Richard, Isabelle;
- Pons, Françoise;
- Astier, Catherine;
- Bourg, Nathalie;
- Hay, Ronald T.;
- Chemaly, Raymond;
- Halaby, Georges;
- Loiselet, Jacques;
- Anderson, Louise V. B.;
- Munain, Adolfo Lopez de;
- Fardeau, Michel;
- Mangeat, Paul;
- Beckmann, Jacques S.;
- Lefranc, Gérard
Publication type:
Article
A unique set of SH3–SH3 interactions controls IB1 homodimerization.
Published in:
EMBO Journal, 2006, v. 25, n. 4, p. 785, doi. 10.1038/sj.emboj.7600982
By:
- Kristensen, Ole;
- Guenat, Sylvie;
- Dar, Imran;
- Allaman-Pillet, Nathalie;
- Abderrahmani, Amar;
- Ferdaoussi, Mourad;
- Roduit, Raphaël;
- Maurer, Fabienne;
- Beckmann, Jacques S;
- Kastrup, Jette S;
- Gajhede, Michael;
- Bonny, Christophe
Publication type:
Article
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Published in:
2008
By:
- Rio Frio, Thomas;
- Wade, Nicholas M.;
- Ransijn, Adriana;
- Berson, Eliot L.;
- Beckmann, Jacques S.;
- Rivolta, Carlo
Publication type:
journal article
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Published in:
Glia, 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
By:
- Gouttenoire, Estelle Arnaud;
- Lupo, Vincenzo;
- Calpena, Eduardo;
- Bartesaghi, Luca;
- Schüpfer, Fanny;
- Médard, Jean‐Jacques;
- Maurer, Fabienne;
- Beckmann, Jacques S.;
- Senderek, Jan;
- Palau, Francesc;
- Espinós, Carmen;
- Chrast, Roman
Publication type:
Article
Recovering Frequencies of Known Haplotype Blocks From Single-Nucleotide Polymorphism Allele Frequencies.
Published in:
Genetics, 2004, v. 166, n. 4, p. 2001
By:
- Itsik Pe'er;
- Beckmann, Jacques S.
Publication type:
Article
Rat Gene Mapping Using PCR-Analyzed Microsatellites.
Published in:
Genetics, 1992, v. 131, n. 3, p. 701
By:
- Serikawa, Tadao;
- Kuramoto, Takashi;
- Hilbert, Pascale;
- Mori, Masayuki;
- Yamada, Junzo;
- Dubay, Christopher J.;
- Lindpainter, Klaus;
- Ganten, Detlev;
- Guénet, Jean-Louis;
- Lathrop, G. Mark;
- Beckmann, Jacques S.
Publication type:
Article
Influence of CRTC1 Polymorphisms on Body Mass Index and Fat Mass in Psychiatric Patients and the General Adult Population.
Published in:
JAMA Psychiatry, 2013, v. 70, n. 10, p. 1011, doi. 10.1001/jamapsychiatry.2013.187
By:
- Eva Choong;
- Quteineh, Lina;
- Cardinaux, Jean-René;
- Gholam-Rezaee, Mehdi;
- Vandenberghe, Frederik;
- Dobrinas, Maria;
- Bondolfi, Guido;
- Etter, Manuela;
- Holzer, Laurent;
- Magistretti, Pierre;
- von Gunten, Armin;
- Preisig, Martin;
- Vollenweider, Peter;
- Beckmann, Jacques S.;
- Pralong, François P.;
- Waeber, Gerard;
- Kutalik, Zoltan;
- Conus, Philippe;
- Bochud, Murielle;
- Eap, Chin B.
Publication type:
Article
High-level transgene expression by homologous recombination-mediated gene transfer.
Published in:
Nucleic Acids Research, 2011, v. 39, n. 15, p. e104, doi. 10.1093/nar/gkr436
By:
- Grandjean, Mélanie;
- Girod, Pierre-Alain;
- Calabrese, David;
- Kostyrko, Kaja;
- Wicht, Marianne;
- Yerly, Florence;
- Mazza, Christian;
- Beckmann, Jacques S.;
- Martinet, Danielle;
- Mermod, Nicolas
Publication type:
Article
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin.
Published in:
Nucleic Acids Research, 2008, v. 36, n. 21, p. 6918, doi. 10.1093/nar/gkn812
By:
- Kazadi, Kayole;
- Loeuillet, Corinne;
- Deutsch, Samuel;
- Ciuffi, Angela;
- Muñoz, Miguel;
- Beckmann, Jacques S.;
- Moradpour, Darius;
- Antonarakis, Stylianos E.;
- Telenti, Amalio
Publication type:
Article
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36431
By:
- Bonafé, Luisa;
- Liang, Jinlong;
- Gorna, Maria W.;
- Zhang, Qingyan;
- Ha‐Vinh, Russia;
- Campos‐Xavier, Ana Belinda;
- Unger, Sheila;
- Beckmann, Jacques S.;
- Le Béchec, Antony;
- Stevenson, Brian;
- Giedion, Andres;
- Liu, Xuanzhu;
- Superti‐Furga, Giulio;
- Wang, Wei;
- Spahr, André;
- Superti‐Furga, Andrea
Publication type:
Article
Potocki-shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 346, doi. 10.1002/ajmg.a.36140
By:
- Ferrarini, Alessandra;
- Gaillard, Muriel;
- Guerry, Frederic;
- Ramelli, Gianpaolo;
- Heidi, Fodstad;
- Keddache, Caroline Verley;
- Wieland, Ilse;
- Beckmann, Jacques S.;
- Jaquemont, Sébastien;
- Martinet, Danielle
Publication type:
Article
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Published in:
2022
By:
- Jacobsen, Julius O. B.;
- Baudis, Michael;
- Baynam, Gareth S.;
- Beckmann, Jacques S.;
- Beltran, Sergi;
- Buske, Orion J.;
- Callahan, Tiffany J.;
- Chute, Christopher G.;
- Courtot, Mélanie;
- Danis, Daniel;
- Elemento, Olivier;
- Essenwanger, Andrea;
- Freimuth, Robert R.;
- Gargano, Michael A.;
- Groza, Tudor;
- Hamosh, Ada;
- Harris, Nomi L.;
- Kaliyaperumal, Rajaram;
- Lloyd, Kevin C. Kent;
- Khalifa, Aly
Publication type:
Letter
Clarity and claims in variation/mutation databasing.
Published in:
2011
By:
- Dalgleish, Raymond;
- Oetting, William S;
- Auerbach, Arleen D;
- Beckmann, Jacques S;
- Cambon-Thomsen, Anne;
- Devereau, Andrew;
- Greenblatt, Marc S;
- Patrinos, George P;
- Taylor, Graham R;
- Vihinen, Mauno;
- Brookes, Anthony J
Publication type:
Letter
A modular approach for integrative analysis of large-scale gene-expression and drug-response data.
Published in:
Nature Biotechnology, 2008, v. 26, n. 5, p. 531, doi. 10.1038/nbt1397
By:
- Kutalik, Zoltán;
- Beckmann, Jacques S;
- Bergmann, Sven
Publication type:
Article
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1345, doi. 10.1038/ng.2795
By:
- Do, Ron;
- Willer, Cristen J;
- Schmidt, Ellen M;
- Sengupta, Sebanti;
- Gao, Chi;
- Peloso, Gina M;
- Gustafsson, Stefan;
- Kanoni, Stavroula;
- Ganna, Andrea;
- Chen, Jin;
- Buchkovich, Martin L;
- Mora, Samia;
- Beckmann, Jacques S;
- Bragg-Gresham, Jennifer L;
- Chang, Hsing-Yi;
- Demirkan, Ayşe;
- Den Hertog, Heleen M;
- Donnelly, Louise A;
- Ehret, Georg B;
- Esko, Tõnu
Publication type:
Article
Discovery and refinement of loci associated with lipid levels.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1274, doi. 10.1038/ng.2797
By:
- Willer, Cristen J;
- Schmidt, Ellen M;
- Sengupta, Sebanti;
- Peloso, Gina M;
- Gustafsson, Stefan;
- Kanoni, Stavroula;
- Ganna, Andrea;
- Chen, Jin;
- Buchkovich, Martin L;
- Mora, Samia;
- Beckmann, Jacques S;
- Bragg-Gresham, Jennifer L;
- Chang, Hsing-Yi;
- Demirkan, Ayşe;
- Den Hertog, Heleen M;
- Do, Ron;
- Donnelly, Louise A;
- Ehret, Georg B;
- Esko, Tõnu;
- Feitosa, Mary F
Publication type:
Article
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 133, doi. 10.1038/ng.1026
By:
- Nikolaev, Sergey I;
- Rimoldi, Donata;
- Iseli, Christian;
- Valsesia, Armand;
- Robyr, Daniel;
- Gehrig, Corinne;
- Harshman, Keith;
- Guipponi, Michel;
- Bukach, Olesya;
- Zoete, Vincent;
- Michielin, Olivier;
- Muehlethaler, Katja;
- Speiser, Daniel;
- Beckmann, Jacques S;
- Xenarios, Ioannis;
- Halazonetis, Thanos D;
- Jongeneel, C Victor;
- Stevenson, Brian J;
- Antonarakis, Stylianos E
Publication type:
Article
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Published in:
Nature Genetics, 2011, v. 43, n. 8, p. 753, doi. 10.1038/ng.866
By:
- Kilpelainen, Tuomas O.;
- Carola Zillikens, M.;
- Stančakova, Alena;
- Finucane, Francis M.;
- Ried, Janina S.;
- Langenberg, Claudia;
- Weihua Zhang;
- Beckmann, Jacques S.;
- Jian’an Luan;
- Vandenput, Liesbeth;
- Styrkarsdottir, Unnur;
- Yanhua Zhou;
- Smith, Albert Vernon;
- Jing-Hua Zhao;
- Amin, Najaf;
- Vedantam, Sailaja;
- So-Youn Shin;
- Haritunians, Talin;
- Mao Fu;
- Feitosa, Mary F.
Publication type:
Article
Variants in MTNR1B influence fasting glucose levels.
Published in:
Nature Genetics, 2009, v. 41, n. 1, p. 77, doi. 10.1038/ng.290
By:
- Prokopenko, Inga;
- Langenberg, Claudia;
- Florez, Jose C.;
- Saxena, Richa;
- Soranzo, Nicole;
- Thorleifsson, Gudmar;
- Loos, Ruth J. F.;
- Manning, Alisa K.;
- Jackson, Anne U.;
- Aulchenko, Yurii;
- Potter, Simon C.;
- Erdos, Michael R.;
- Sanna, Serena;
- Hottenga, Jouke-Jan;
- Wheeler, Eleanor;
- Kaakinen, Marika;
- Lyssenko, Valeriya;
- Chen, Wei-Min;
- Ahmadi, Kourosh;
- Beckmann, Jacques S.
Publication type:
Article
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Published in:
Nature Genetics, 2008, v. 40, n. 6, p. 768, doi. 10.1038/ng.140
By:
- Loos, Ruth J. F.;
- Lindgren, Cecilia M.;
- Li, Shengxu;
- Wheeler, Eleanor;
- Zhao, Jing Hua;
- Prokopenko, Inga;
- Inouye, Michael;
- Freathy, Rachel M.;
- Attwood, Antony P.;
- Beckmann, Jacques S.;
- Berndt, Sonja I.;
- Jacobs, Kevin B.;
- Chanock, Stephen J.;
- Hayes, Richard B.;
- Bergmann, Sven;
- Bennett, Amanda J.;
- Bingham, Sheila A.;
- Bochud, Murielle;
- Brown, Morris;
- Cauchi, Stéphane
Publication type:
Article
Genome-wide association analysis identifies 20 loci that influence adult height.
Published in:
Nature Genetics, 2008, v. 40, n. 5, p. 575, doi. 10.1038/ng.121
By:
- Weedon, Michael N.;
- Lango, Hana;
- Lindgren, Cecilia M.;
- Wallace, Chris;
- Evans, David M.;
- Mangino, Massimo;
- Freathy, Rachel M.;
- Perry, John R. B.;
- Stevens, Suzanne;
- Hall, Alistair S.;
- Samani, Nilesh J.;
- Shields, Beverly;
- Prokopenko, Inga;
- Farrall, Martin;
- Dominiczak, Anna;
- Johnson, Toby;
- Bergmann, Sven;
- Beckmann, Jacques S.;
- Vollenweider, Peter;
- Waterworth, Dawn M.
Publication type:
Article
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Published in:
Nature Genetics, 2001, v. 29, n. 1, p. 83, doi. 10.1038/ng718
By:
- Eisenberg, Iris;
- Avidan, Nili;
- Potikha, Tamara;
- Hochner, Hagit;
- Chen, Miriam;
- Olender, Tsviya;
- Barash, Mark;
- Shemesh, Moshe;
- Sadeh, Menachem;
- Grabov-Nardini, Gil;
- Shmilevich, Inna;
- Friedmann, Adam;
- Karpati, George;
- Bradley, Walter G.;
- Baumbach, Lisa;
- Lancet, Doron;
- Asher, Edna Ben;
- Beckmann, Jacques S.;
- Argov, Zohar
Publication type:
Article
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
Published in:
Nature Genetics, 1999, v. 22, n. 2, p. 178, doi. 10.1038/9696
By:
- Drenth, Joost P.H.;
- Cuisset, Laurence;
- Grateau, Gilles;
- Vasseur, Christian;
- van de Velde-Visser, Saskia D.;
- de Jong, Jan G.N.;
- Beckmann, Jacques S.;
- van der Meer, Jos W.M.;
- Delpech & contributing members of the International Hyper-IgD Study Group, Marc
Publication type:
Article
Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells.
Published in:
Nature Methods, 2007, v. 4, n. 9, p. 747, doi. 10.1038/nmeth1076
By:
- Girod, Pierre-Alain;
- Duc-Quang Nguyen;
- Calabrese, David;
- Puttini, Stefania;
- Grandjean, Mélanie;
- Martinet, Danielle;
- Regamey, Alexandre;
- Saugy, Damien;
- Beckmann, Jacques S.;
- Bucher, Philipp;
- Mermod, Nicolas
Publication type:
Article
Disease taxonomy – monogenic muscular dystrophy.
Published in:
British Medical Bulletin, 1999, v. 55, n. 2, p. 340, doi. 10.1258/0007142991902411
By:
- Beckmann, Jacques S
Publication type:
Article
Mapping Genetic Variants Associated with Beta-Adrenergic Responses in Inbred Mice.
Published in:
PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041032
By:
- Hersch, Micha;
- Peter, Bastian;
- Kang, Hyun Min;
- Schüpfer, Fanny;
- Abriel, Hugues;
- Pedrazzini, Thierry;
- Eskin, Eleazar;
- Beckmann, Jacques S.;
- Bergmann, Sven;
- Maurer, Fabienne
Publication type:
Article
Network-Guided Analysis of Genes with Altered Somatic Copy Number and Gene Expression Reveals Pathways Commonly Perturbed in Metastatic Melanoma.
Published in:
PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018369
By:
- Valsesia, Armand;
- Rimoldi, Donata;
- Martinet, Danielle;
- Ibberson, Mark;
- Benaglio, Paola;
- Quadroni, Manfredo;
- Waridel, Patrice;
- Gaillard, Muriel;
- Pidoux, Mireille;
- Rapin, Blandine;
- Rivolta, Carlo;
- Xenarios, Ioannis;
- Simpson, Andrew J. G.;
- Antonarakis, Stylianos E.;
- Beckmann, Jacques S.;
- Jongeneel, C. Victor;
- Iseli, Christian;
- Stevenson, Brian J.
Publication type:
Article
Global Transcriptional Programs in Peripheral Nerve Endoneurium and DRG Are Resistant to the Onset of Type 1 Diabetic Neuropathy in Ins2<sup>Akita/+</sup> Mice.
Published in:
PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010832
By:
- de Preux Charles, Anne-Sophie;
- Verdier, Valérie;
- Zenker, Jennifer;
- Peter, Bastian;
- Médard, Jean-Jacques;
- Kuntzer, Thierry;
- Beckmann, Jacques S.;
- Bergmann, Sven;
- Chrast, Roman
Publication type:
Article
Cardiovascular Response to Beta-Adrenergic Blockade or Activation in 23 Inbred Mouse Strains.
Published in:
PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006610
By:
- Berthonneche, Corinne;
- Peter, Bastian;
- pfer, Fanny Schü;
- Hayoz, Pamela;
- Kutalik, Zoltán;
- Abriel, Hugues;
- Pedrazzini, Thierry;
- Beckmann, Jacques S.;
- Bergmann, Sven;
- Maurer, Fabienne
Publication type:
Article
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
Published in:
2003
By:
- Guyon, Jeffrey R;
- Kudryashova, Elena;
- Potts, Alexandra;
- Dalkilic, Isin;
- Brosius, Melissa A;
- Thompson, Terri G;
- Beckmann, Jacques S;
- Kunkel, Louis M;
- Spencer, Melissa J
Publication type:
journal article
Calpain 3 cleaves filamin C and regulates its ability to interact with γ- and δ-sarcoglycans.
Published in:
Muscle & Nerve, 2003, v. 28, n. 4, p. 472, doi. 10.1002/mus.10465
By:
- Jeffrey R. Guyon;
- Elena Kudryashova;
- Alexandra Potts;
- Isin Dalkilic;
- Melissa A. Brosius;
- Terri G. Thompson;
- Jacques S. Beckmann;
- Louis M. Kunkel;
- Melissa J. Spencer
Publication type:
Article
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
Published in:
1998
By:
- Kawai, Hisaomi;
- Akaike, Masashi;
- Kunishige, Makoto;
- Inui, Toshio;
- Adachi, Katsuhito;
- Kimura, Chiyomi;
- Kawajiri, Masakazu;
- Nishida, Yoshihiko;
- Endo, Itsuro;
- Kashiwagi, Setsuko;
- Nishino, Hiroshi;
- Fujiwara, Tsutomu;
- Okuno, Shiro;
- Roudaut, Carinne;
- Richard, Isabelle;
- Beckmann, Jacques S.;
- Miyoshi, Kazuo;
- Matsumoto, Toshio;
- Kawai, H;
- Akaike, M
Publication type:
journal article
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
Published in:
1998
By:
- Pénisson-Besnier, Isabelle;
- Richard, Isabelle;
- Dubas, Frédéric;
- Beckmann, Jacques S.;
- Fardeau, Michel;
- Pénisson-Besnier, I;
- Richard, I;
- Dubas, F;
- Beckmann, J S;
- Fardeau, M
Publication type:
journal article
Proteomic signatures: Amino acid and oligopeptide compositions differentiate among phyla.
Published in:
Proteins, 2004, v. 54, n. 1, p. 20, doi. 10.1002/prot.10559
By:
- Itsik Pe'er;
- Clifford E. Felder;
- Orna Man;
- Israel Silman;
- Joel L. Sussman;
- Jacques S. Beckmann
Publication type:
Article
Association between C-Reactive Protein and Adiposity in Women.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 10, p. 3969, doi. 10.1210/jc.2008-2428
By:
- Bochud, Murielle;
- Marquant, Fabienne;
- Marques-Vidal, Pedro-Manuel;
- Vollenweider, Peter;
- Beckmann, Jacques S.;
- Mooser, Vincent;
- Paccaud, Fred;
- Rousson, Valentin
Publication type:
Article
RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.
Published in:
BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3059-6
By:
- Prunotto, Andrea;
- Stevenson, Brian J.;
- Berthonneche, Corinne;
- Schüpfer, Fanny;
- Beckmann, Jacques S.;
- Maurer, Fabienne;
- Bergmann, Sven
Publication type:
Article
Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection.
Published in:
Biotechnology & Bioengineering, 2008, v. 101, n. 5, p. 937, doi. 10.1002/bit.21972
By:
- Chenuet, Sebastien;
- Martinet, Danielle;
- Besuchet-Schmutz, Nathalie;
- Wicht, Marianne;
- Jaccard, Nicolas;
- Bon, Anne-Charlotte;
- Derouazi, Madiha;
- Hacker, David L.;
- Beckmann, Jacques S.;
- Wurm, Florian M.
Publication type:
Article
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IκBα/NF-κB survival pathway in skeletal muscle.
Published in:
Journal of Molecular Medicine, 2001, v. 79, n. 5/6, p. 254, doi. 10.1007/s001090100225
By:
- Baghdiguian, Stephen;
- Richard, Isabelle;
- Martin, Marianne;
- Coopman, Peter;
- Beckmann, Jacques S.;
- Mangeat, Paul;
- Lefranc, Gérard
Publication type:
Article
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
Published in:
Nature Reviews Genetics, 2007, v. 8, n. 8, p. 639, doi. 10.1038/nrg2149
By:
- Beckmann, Jacques S.;
- Estivill, Xavier;
- Antonarakis, Stylianos E.
Publication type:
Article
Mendelian disorders deserve more attention.
Published in:
2006
By:
- Antonarakis, Stylianos E.;
- Beckmann, Jacques S.
Publication type:
journal article
The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males.
Published in:
Human Genetics, 2006, v. 120, n. 4, p. 447, doi. 10.1007/s00439-006-0198-x
By:
- Rosenberg, Shai;
- Templeton, Alan R.;
- Feigin, Paul D.;
- Lancet, Doron;
- Beckmann, Jacques S.;
- Selig, Sara;
- Hamer, Dean H.;
- Skorecki, Karl
Publication type:
Article
On the applicability of a haplotype map to un-assayed populations.
Published in:
Human Genetics, 2004, v. 114, n. 2, p. 214, doi. 10.1007/s00439-003-1046-x
By:
- Pe'er, Itsik;
- Beckmann, Jacques S.
Publication type:
Article
The phenotype of recurrent 10q22q23 deletions and duplications.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
By:
- van Bon, Bregje W. M.;
- Balciuniene, Jorune;
- Fruhman, Gary;
- Nagamani, Sandesh Chakravarthy Sreenath;
- Broome, Diane L.;
- Cameron, Elizabeth;
- Martinet, Danielle;
- Roulet, Eliane;
- Jacquemont, Sebastien;
- Beckmann, Jacques S;
- Irons, Mira;
- Potocki, Lorraine;
- Lee, Brendan;
- Sau Wai Cheung;
- Patel, Ankita;
- Bellini, Melissa;
- Selicorni, Angelo;
- Ciccone, Roberto;
- Silengo, Margherita;
- Vetro, Annalisa
Publication type:
Article
Genetic male infertility and mutation of CATSPER ion channels.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
By:
- Hildebrand, Michael S.;
- Avenarius, Matthew R.;
- Fellous, Marc;
- Yuzhou Zhang;
- Meyer, Nicole C.;
- Auer, Jana;
- Serres, Catherine;
- Kahrizi, Kimia;
- Najmabadi, Hossein;
- Beckmann, Jacques S.;
- Smith, Richard J. H.
Publication type:
Article
AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.
Published in:
2007
By:
- Amann-Zalcenstein, Daniela;
- Avidan, Nili;
- Kanyas, Kyra;
- Ebstein, Richard P.;
- Kohn, Yoav;
- Hamdan, Adnan;
- Ben-Asher, Edna;
- Karni, Osnat;
- Mujaheed, Muhammed;
- Segman, Ronnen H.;
- Maier, Wolfgang;
- Macciardi, Fabio;
- Beckmann, Jacques S.;
- Lancet, Doron;
- Lerer, Bernard
Publication type:
Correction Notice
AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1111, doi. 10.1038/sj.ejhg.5201675
By:
- Amann-Zalcenstein, Daniela;
- Avidan, Nili;
- Kanyas, Kyra;
- Ebstein, Richard P.;
- Kohn, Yoav;
- Hamdan, Adnan;
- Ben-Asher, Edna;
- Karni, Osnat;
- Mujaheed, Muhammed;
- Segman, Ronnen H.;
- Maier, Wolfgang;
- Macciardi, Fabio;
- Beckmann, Jacques S.;
- Lancet, Doron;
- Lerer, Bernard
Publication type:
Article
Typing without calling the allele: a strategy for inferring SNP haplotypes.
Published in:
2005
By:
- Barzuza, Tamar;
- Beckmann, Jacques S;
- Shamir, Ron;
- Pe'er, Itsik
Publication type:
Letter

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