Serum Leptin Level Is a Regulator of Bone Mass
Elefteriou, F., Takeda, S., Ebihara, K., Magre, J., Patano, N., Kim, C. Ae, Ogawa, Y., Liu, X., Ware, S. M., Craigen, W. J., Robert, J. J., Vinson, C., Nakao, K., Capeau, J., Karsenty, G., Chambon, Pierre
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (02.03.2004)
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Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax
Yamagata, H, Shimizu, S, Nishida, Y, Watanabe, Y, Craigen, W J, Tsujimoto, Y
Published in Oncogene (08.10.2009)
Published in Oncogene (08.10.2009)
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Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
Ware, S M, El-Hassan, N, Kahler, S G, Zhang, Q, Y-W, Miller, E, Wong, B, Spicer, R L, Craigen, W J, Kozel, B A, Grange, D K, Wong, L-J
Published in Journal of medical genetics (01.05.2009)
Published in Journal of medical genetics (01.05.2009)
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Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy
Almannai, M., Alasmari, A., Alqasmi, A., Faqeih, E., Al Mutairi, F., Alotaibi, M., Samman, M.M., Eyaid, W., Aljadhai, Y.I., Shamseldin, H.E., Craigen, W., Alkuraya, F.S.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
Dai, H., Zhang, V.W., El‐Hattab, A.W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., McNutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W.J., Wong, L.‐J.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy
PIGNATELLI, Ricardo H, MCMAHON, Colin J, CLUNIE, Sarah, FERNBACH, Susan, BOWLES, Neil E, TOWBIN, Jeffrey A, DREYER, William J, DENFIELD, Susan W, PRICE, Jack, BELMONT, John W, CRAIGEN, William J, JEN WU, HOWAIDA EL SAID, BEZOLD, Louis I
Published in Circulation (New York, N.Y.) (25.11.2003)
Published in Circulation (New York, N.Y.) (25.11.2003)
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
Yatsenko, SA, Yatsenko, AN, Szigeti, K, Craigen, WJ, Stankiewicz, P, Cheung, SW, Lupski, JR
Published in Clinical genetics (01.08.2004)
Published in Clinical genetics (01.08.2004)
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Journal Article
Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax
Yamagata, H, Shimizu, S, Nishida, Y, Watanabe, Y, Craigen, W J, Tsujimoto, Y
Published in Oncogene (13.05.2010)
Published in Oncogene (13.05.2010)
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PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13
Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W. J., Gibbs, R.
Published in Human mutation (01.10.2002)
Published in Human mutation (01.10.2002)
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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Eddie M. K. Chung, Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria
Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis
Published in American journal of human genetics (01.02.2005)
Published in American journal of human genetics (01.02.2005)
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Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization
Brunetti-Pierri, N, Grange, DK, Ou, Z, Peiffer, DA, Peacock, SKG, Cooper, ML, Eng, PA, Lalani, SR, Chinault, AC, Gunderson, KL, Craigen, WJ, Cheung, S-W
Published in Clinical genetics (01.11.2007)
Published in Clinical genetics (01.11.2007)
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D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Van Der Knaap, M. S., Jakobs, C., Hoffmann, G. F., Nyhan, W. L., Renier, W. O., Smeitink, J. A. M., Catsman-Berrevoets, C. E., Hjalmarson, O., Vallance, H., Sugita, K., Bowe, C. M., Herrin, J. T., Craigen, W. J., Buist, N. R. M., Brookfield, D. S. K., Chalmers, R. A.
Published in Annals of neurology (01.01.1999)
Published in Annals of neurology (01.01.1999)
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Immotile Sperm and Infertility in Mice Lacking Mitochondrial Voltage-dependent Anion Channel Type 3
Sampson, Margaret J., Decker, William K., Beaudet, Arthur L., Ruitenbeek, Wim, Armstrong, Dawna, Hicks, M. John, Craigen, William J.
Published in The Journal of biological chemistry (19.10.2001)
Published in The Journal of biological chemistry (19.10.2001)
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The Role of Mitochondrial Porins and the Permeability Transition Pore in Learning and Synaptic Plasticity
Weeber, Edwin J., Levy, Michael, Sampson, Margaret J., Anflous, Keltoum, Armstrong, Dawna L., Brown, Sarah E., Sweatt, J. David, Craigen, William J.
Published in The Journal of biological chemistry (24.05.2002)
Published in The Journal of biological chemistry (24.05.2002)
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X-Linked Glycerol Kinase Deficiency in the Mouse Leads to Growth Retardation, Altered Fat Metabolism, Autonomous Glucocorticoid Secretion and Neonatal Death
Mahbubul Huq, A. H. M., Lovell, Rhonda S., Ou, Ching-Nan, Beaudet, Arthur L., Craigen, William J.
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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