New-Onset Diabetes After Renal Transplantation: Risk assessment and management von GHISDAL, Lidia, VAN LAECKE, Steven, ABRAMOWICZ, Marc J, VANHOLDER, Raymond, ABRAMOWICZ, Daniel

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Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons von Azizieh, Régis, Orduz, David, Van Bogaert, Patrick, Bouschet, Tristan, Rodriguez, Wendy, Schiffmann, Serge N., Pirson, Isabelle, Abramowicz, Marc J.

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Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size von Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C.M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey

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Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension von Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy von Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J

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Mutation of a potassium channel-related gene in progressive myoclonic epilepsy von Van Bogaert, Patrick, Azizieh, Regis, Désir, Julie, Aeby, Alec, De Meirleir, Linda, Laes, Jean-François, Christiaens, Florence, Abramowicz, Marc J.

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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway von Lee, Hsien-Yang, Xu, Ying, Huang, Yong, Ahn, Andrew H., Auburger, Georg W.J., Pandolfo, Massimo, Kwieciński, Hubert, Grimes, David A., Lang, Anthony E., Nielsen, Jorgen E., Averyanov, Yuri, Servidei, Serenella, Friedman, Andrzej, Bogaert, Patrick Van, Abramowicz, Marc J., Bruno, Michiko K., Sorensen, Beatrice F., Tang, Ling, Fu, Ying-Hui, Ptáček, Louis J.

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RAPID COMMUNICATION: GCMB Mutation in Familial Isolated Hypoparathyroidism with Residual Secretion of Parathyroid Hormone von Thomée, Caroline, Schubert, Steffen W, Parma, Jasmine, Lê, Phu Quoc, Hashemolhosseini, Said, Wegner, Michael, Abramowicz, Marc J

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GCMB Mutation in Familial Isolated Hypoparathyroidism with Residual Secretion of Parathyroid Hormone von Thomée, Caroline, Schubert, Steffen W., Parma, Jasmine, Lê, Phu Quoc, Hashemolhosseini, Said, Wegner, Michael, Abramowicz, Marc J.

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Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 von Jamieson, C. Ruth, Govaerts, Cédric, Abramowicz, Marc J.

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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation von Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel

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Serotonin 5-HT2B receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension von BLANPAIN, Cédric, LE POUL, Emmanuel, PARMA, Jasmine, KNOOP, Christiane, DETHEUX, Michel, PARMENTIER, Marc, VASSART, Gilbert, ABRAMOWICZ, Marc J

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A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly von Pichon, Bruno, Vankerckhove, Sophie, Bourrouillou, Georges, Duprez, Laurence, Abramowicz, Marc J

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Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 von Jamieson, C. Ruth, Fryns, Jean-Pierre, Jacobs, Jos, Matthijs, Gert, Abramowicz, Marc J.

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From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility revisited von Dan, Bernard, Abramowicz, Marc J

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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma von Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc

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Chimeraplasty validation von Albuquerque-Silva, João, Vassart, Gilbert, Lavinha, João, Abramowicz, Marc J

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Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis von Abramowicz, Marc J., Ribai, Pascale, Cordonnier, Monique

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A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis von Broeders, E. Nilufer, Abramowicz, Daniel, Abramowicz, Marc J., Parma, Jasmine

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A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years von Demeester, Rémy, Parma, Jasmine, Cochaux, Pascale, Vassart, Gilbert, Abramowicz, Marc J.

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