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Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1956, doi. 10.1093/hmg/ddn093
By:
- Tayeh, Marwan K.;
- Yen, Hsan-Jan;
- Beck, John S.;
- Searby, Charles C.;
- Westfall, Trudi A.;
- Griesbach, Hilary;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1904, doi. 10.1093/hmg/ddn088
By:
- Martin, Dianna C.;
- Atmuri, Vasantha;
- Hemming, Richard J.;
- Farley, Judith;
- Mort, John S.;
- Byers, Sharon;
- Hombach-Klonisch, Sabine;
- Stern, Robert;
- Triggs-Raine, Barbara L.
Publication type:
Article
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2058, doi. 10.1093/hmg/ddn105
By:
- Bosveld, Floris;
- Rana, Anil;
- van der Wouden, Petra E.;
- Lemstra, Willy;
- Ritsema, Martha;
- Kampinga, Harm H.;
- Sibon, Ody C. M.
Publication type:
Article
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2018, doi. 10.1093/hmg/ddn099
By:
- Martinelli, Simone;
- Torreri, Paola;
- Tinti, Michele;
- Stella, Lorenzo;
- Bocchinfuso, Gianfranco;
- Flex, Elisabetta;
- Grottesi, Alessandro;
- Ceccarini, Marina;
- Palleschi, Antonio;
- Cesareni, Gianni;
- Castagnoli, Luisa;
- Petrucci, Tamara C.;
- Gelb, Bruce D.;
- Tartaglia, Marco
Publication type:
Article
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2006, doi. 10.1093/hmg/ddn098
By:
- Pymar, Louis S.;
- Platt, Fiona M.;
- Askham, Jon M.;
- Morrison, Ewan E.;
- Knowles, Margaret A.
Publication type:
Article
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1877, doi. 10.1093/hmg/ddn083
By:
- Grandis, Marina;
- Vigo, Tiziana;
- Passalacqua, Mario;
- Jain, Manisha;
- Scazzola, Sara;
- La Padula, Veronica;
- Brucal, Michelle;
- Benvenuto, Federica;
- Nobbio, Lucilla;
- Cadoni, Angela;
- Mancardi, Gian Luigi;
- Kamholz, John;
- Shy, Michael E.;
- Schenone, Angelo
Publication type:
Article
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1946, doi. 10.1093/hmg/ddn092
By:
- Chevalier-Larsen, Erica S.;
- Wallace, Karen E.;
- Pennise, Cynthia R.;
- Holzbaur, Erika L.F.
Publication type:
Article
APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2039, doi. 10.1093/hmg/ddn101
By:
- Klos, Kathy;
- Shimmin, Lawrence;
- Ballantyne, Christie;
- Boerwinkle, Eric;
- Clark, Andrew;
- Coresh, Josef;
- Hanis, Craig;
- Liu, Kiang;
- Sayre, Scott;
- Hixson, James
Publication type:
Article
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1916, doi. 10.1093/hmg/ddn089
By:
- Benzinou, Michael;
- Chèvre, Jean-Claude;
- Ward, Kirsten J.;
- Lecoeur, Cécile;
- Dina, Christian;
- Lobbens, Stephane;
- Durand, Emmanuelle;
- Delplanque, Jérome;
- Horber, Fritz F.;
- Heude, Barbara;
- Balkau, Beverley;
- Borch-Johnsen, Knut;
- Jørgensen, Torben;
- Hansen, Torben;
- Pedersen, Oluf;
- Meyre, David;
- Froguel, Philippe
Publication type:
Article
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2030, doi. 10.1093/hmg/ddn100
By:
- Beysen, Diane;
- Moumné, Lara;
- Veitia, Reiner;
- Peters, Hartmut;
- Leroy, Bart P.;
- De Paepe, Anne;
- De Baere, Elfride
Publication type:
Article
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1938, doi. 10.1093/hmg/ddn091
By:
- Capon, Francesca;
- Bijlmakers, Marie-José;
- Wolf, Natalie;
- Quaranta, Maria;
- Huffmeier, Ulrike;
- Allen, Michael;
- Timms, Kirsten;
- Abkevich, Victor;
- Gutin, Alexander;
- Smith, Rhodri;
- Warren, Richard B.;
- Young, Helen S.;
- Worthington, Jane;
- Burden, A. David;
- Griffiths, Christopher E.M.;
- Hayday, Adrian;
- Nestle, Frank O.;
- Reis, Andre;
- Lanchbury, Jerry;
- Barker, Jonathan N.
Publication type:
Article
DNA double-strand break repair in parental chromatin of mouse zygotes, the first cell cycle as an origin of de novo mutation.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1922, doi. 10.1093/hmg/ddn090
By:
- Derijck, Alwin;
- van der Heijden, Godfried;
- Giele, Maud;
- Philippens, Marielle;
- de Boer, Peter
Publication type:
Article
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2047, doi. 10.1093/hmg/ddn102
By:
- Allan, Andrea M.;
- Liang, Xiaomin;
- Luo, Yuping;
- Pak, ChangHui;
- Li, Xuekun;
- Szulwach, Keith E.;
- Chen, Dahua;
- Jin, Peng;
- Zhao, Xinyu
Publication type:
Article
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1968, doi. 10.1093/hmg/ddn094
By:
- Rinne, Tuula;
- Clements, Suzanne E.;
- Lamme, Evert;
- Duijf, Pascal H.G.;
- Bolat, Emine;
- Meijer, Rowdy;
- Scheffer, Hans;
- Rosser, Elisabeth;
- Tan, Tiong Yang;
- McGrath, John A.;
- Schalkwijk, Joost;
- Brunner, Han G.;
- Zhou, Huiqing;
- van Bokhoven, Hans
Publication type:
Article
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2070, doi. 10.1093/hmg/ddn111
By:
- Modiano, David;
- Bancone, Germana;
- Ciminelli, Bianca Maria;
- Pompei, Fiorenza;
- Blot, Isa;
- Simporé, Jacques;
- Modiano, Guido
Publication type:
Article
Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1890
By:
- White, Julia H.;
- Chiano, Mathias;
- Wigglesworth, Mark;
- Geske, Robert;
- Riley, John;
- White, Nicola;
- Hall, Simon;
- Zhu, Guohua;
- Maurio, Frank;
- Savage, Tony;
- Anderson, Wayne;
- Cordy, Joanna;
- Ducceschi, Melissa;
- Vestbo, Jorgen;
- Pillai, Sreekumar G.
Publication type:
Article
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine β-synthase-deficient mice, an animal model for hyperhomocysteinemia.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1994, doi. 10.1093/hmg/ddn097
By:
- Akahoshi, Noriyuki;
- Kobayashi, Chiho;
- Ishizaki, Yasuki;
- Izumi, Takashi;
- Himi, Toshiyuki;
- Suematsu, Makoto;
- Ishii, Isao
Publication type:
Article
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1988, doi. 10.1093/hmg/ddn096
By:
- Simón-Sánchez, Javier;
- Singleton, Andrew B.
Publication type:
Article
Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1978, doi. 10.1093/hmg/ddn095
By:
- Kohler, Eva Maria;
- Derungs, Adrian;
- Daum, Gabriele;
- Behrens, Jürgen;
- Schneikert, Jean
Publication type:
Article

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