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1. • Journal article

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   Performance of a highly successful outbreak strain of Mycobacterium tuberculosis in a multifaceted approach to bacterial fitness assessment.

   Yokobori, Noemí López, Beatriz Monteserin, Johana Paul, Roxana Von Groll, Andrea Martin, Anandi[UCL] Marquina-Castillo, Brenda Palomino, Juan Carlos Hernández-Pando, Rogelio Sasiain, María Del Carmen Ritacco, Viviana (2018) International journal of medical microbiology : IJMM — Vol. 308, no. 3, p. 349-357 (2018)
2. • Journal article

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   Multiple phenotypes in phosphoglucomutase 1 deficiency.

   Tegtmeyer, Laura C Rust, Stephan van Scherpenzeel, Monique Ng, Bobby G Losfeld, Marie-Estelle Timal, Sharita Raymond, Kimiyo He, Ping Ichikawa, Mie Veltman, Joris Huijben, Karin Shin, Yoon S Sharma, Vandana Adamowicz, Maciej Lammens, Martin Reunert, Janine Witten, Anika Schrapers, Esther Matthijs, Gert Jaeken, Jaak Rymen, Daisy Stojkovic, Tanya Laforêt, Pascal Petit, François Aumaître, Olivier Czarnowska, Elzbieta Piraud, Monique Podskarbi, Teodor Stanley, Charles A Matalon, Reuben Burda, Patricie Seyyedi, Soraya Debus, Volker Socha, Piotr Sykut-Cegielska, Jolanta van Spronsen, Francjan de Meirleir, Linda Vajro, Pietro DeClue, Terry Ficicioglu, Can Wada, Yoshinao Wevers, Ron A Vanderschaeghe, Dieter Callewaert, Nico Fingerhut, Ralph Van Schaftingen, Emile[UCL] Freeze, Hudson H Morava, Eva Lefeber, Dirk J Marquardt, Thorsten (2014) New England Journal of Medicine — Vol. 370, no.6, p. 533-42 (2014)
3. • Journal article

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   Molecular Minimal Residual Disease in Acute Myeloid Leukemia.

   Jongen-Lavrencic, Mojca Grob, Tim Hanekamp, Diana Kavelaars, François G Al Hinai, Adil Zeilemaker, Annelieke Erpelinck-Verschueren, Claudia A J Gradowska, Patrycja L Meijer, Rosa Cloos, Jacqueline Biemond, Bart J Graux, Carlos[UCL] van Marwijk Kooy, Marinus Manz, Markus G Pabst, Thomas Passweg, Jakob R Havelange, Violaine[UCL] Ossenkoppele, Gert J Sanders, Mathijs A Schuurhuis, Gerrit J Löwenberg, Bob Valk, Peter J M (2018) The New England journal of medicine — Vol. 378, no. 13, p. 1189-1199 (2018)
4. • Journal article

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   Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei.

   Francies, Flavia Zita Wainwright, Rosalind Poole, Janet De Leeneer, Kim Coene, Ilse Wieme, Greet Poirel, Hélène[UCL] Brichard, Bénédicte[UCL] Vermeulen, Stephanie Vral, Anne Slabbert, Jacobus Claes, Kathleen Baeyens, Ans (2018) DNA repair — Vol. 61, p. 17-24 (2018)
5. • Journal article

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   Congenital disorders of glycosylation (CDG): Quo vadis?

   Péanne, Romain de Lonlay, Pascale Foulquier, François Kornak, Uwe Lefeber, Dirk J Morava, Eva Pérez, Belén Seta, Nathalie Thiel, Christian Van Schaftingen, Emile[UCL] Matthijs, Gert Jaeken, Jaak (2018) European journal of medical genetics — Vol. 61, no.11, p. 643-663 (2018)
6. • Journal article

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   Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

   Callier, P Aral, B Hanna, N Lambert, S Dindy, H Ragon, C Payet, M Collod-Beroud, G Carmignac, V Delrue, M A Goizet, C Philip, N Busa, T Dulac, Y Missotte, I Sznajer, Yves[UCL] Toutain, A Francannet, C Megarbane, A Julia, S Edouard, T Sarda, P Amiel, J Lyonnet, S Cormier-Daire, V Gilbert, B Jacquette, A Heron, D Collignon, P Lacombe, D Morice-Picard, F Jouk, P S Cusin, V Willems, M Sarrazin, E Amarof, K Coubes, C Addor, M C Journel, H Colin, E Khau Van Kien, P Baumann, C Leheup, B Martin-Coignard, D Doco-Fenzy, M Goldenberg, A Plessis, G Thevenon, J Pasquier, L Odent, S Vabres, P Huet, F Marle, N Mosca-Boidron, A L Mugneret, F Gauthier, S Binquet, C Thauvin-Robinet, C Jondeau, G Boileau, C Faivre, L (2013) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 84, no.6, p. 507-521 (2013)
7. • Journal article

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   Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

   Sen, Partha Yang, Yaping Navarro, Colby Silva, Iris Szafranski, Przemyslaw Kolodziejska, Katarzyna E Dharmadhikari, Avinash V Mostafa, Hasnaa Kozakewich, Harry Kearney, Debra Cahill, John B Whitt, Merrissa Bilic, Masha Margraf, Linda Charles, Adrian Goldblatt, Jack Gibson, Kathleen Lantz, Patrick E Garvin, A Julian Petty, John Kiblawi, Zeina Zuppan, Craig McConkie-Rosell, Allyn McDonald, Marie T Peterson-Carmichael, Stacey L Gaede, Jane T Shivanna, Binoy Schady, Deborah Friedlich, Philippe S Hays, Stephen R Palafoll, Irene Valenzuela Siebers-Renelt, Ulrike Bohring, Axel Finn, Laura S Siebert, Joseph R Galambos, Csaba Nguyen, Lananh Riley, Melissa Chassaing, Nicolas Vigouroux, Adeline Rocha, Gustavo Fernandes, Susana Brumbaugh, Jane Roberts, Kari Ho-Ming, Luk Lo, Ivan F M Lam, Stephen Gerychova, Romana Jezova, Marta Valaskova, Iveta Fellmann, Florence Afshar, Katayoun Giannoni, Eric Muhlethaler, Vincent Liang, Jinlong Beckmann, Jacques S Lioy, Janet Deshmukh, Hitesh Srinivasan, Lakshmi Swarr, Daniel T Sloman, Melissa Shaw-Smith, Charles van Loon, Rosa Laura Hagman, Cecilia Sznajer, Yves[UCL] Barréa, Catherine[UCL] Galant, Christine[UCL] Detaille, Thierry[UCL] Wambach, Jennifer A Cole, F Sessions Hamvas, Aaron Prince, Lawrence S Diderich, Karin E M Brooks, Alice S Verdijk, Robert M Ravindranathan, Hari Sugo, Ella Mowat, David Baker, Michael L Langston, Claire Welty, Stephen Stankiewicz, Pawel (2013) Human Mutation — Vol. 34, no. 6, p. 801-811 (2013)
8. • Journal article

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   Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

   Verloes, Alain Di Donato, Nataliya Masliah-Planchon, Julien Jongmans, Marjolijn Abdul-Raman, Omar A Albrecht, Beate Allanson, Judith Brunner, Han Bertola, Debora Chassaing, Nicolas David, Albert Devriendt, Koen Eftekhari, Pirayeh Drouin-Garraud, Valérie Faravelli, Francesca Faivre, Laurence Giuliano, Fabienne Guion Almeida, Leina Juncos, Jorge Kempers, Marlies Eker, Hatice Koçak Lacombe, Didier Lin, Angela Mancini, Grazia Melis, Daniela Lourenço, Charles Marques Siu, Victoria Mok Morin, Gilles Nezarati, Marjan Nowaczyk, Malgorzata J M Ramer, Jeanette C Osimani, Sara Philip, Nicole Pierpont, Mary Ella Procaccio, Vincent Roseli, Zeichi-Seide Rossi, Massimiliano Rusu, Cristina Sznajer, Yves[UCL] Templin, Ludivine Uliana, Vera Klaus, Mirjam Van Bon, Bregje Van Ravenswaaij, Conny Wainer, Bruce Fry, Andrew E Rump, Andreas Hoischen, Alexander Drunat, Séverine Rivière, Jean-Baptiste Dobyns, William B Pilz, Daniela T (2015) European Journal of Human Genetics — Vol. 23, no.3, p. 292-301 (2014)
9. • Journal article

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   Further delineation of the KAT6B molecular and phenotypic spectrum

   Gannon, Tamsin Perveen, Rahat Schlecht, Hélene Ramsden, Simon Anderson, Beverley Kerr, Bronwyn Day, Ruth Banka, Siddharth Suri, Mohnish Berland, Siren Gabbett, Michael Ma, Alan Lyonnet, Stan Cormier-Daire, Valerie Yilmaz, Rüstem Borck, Guntram Wieczorek, Dagmar Anderlid, Britt-Marie Smithson, Sarah Vogt, Julie Moore-Barton, Heather Simsek-Kiper, Pelin Ozlem Maystadt, Isabelle Destrée, Anne Bucher, Jessica Angle, Brad Mohammed, Shehla Wakeling, Emma Price, Sue Singer, Amihood Sznajer, Yves[UCL] Toutain, Annick Haye, Damien Newbury-Ecob, Ruth Fradin, Melanie McGaughran, Julie Tuysuz, Beyhan Tein, Mark Bouman, Katelijne Dabir, Tabib Van den Ende, Jenneke Luk, Ho Ming Pilz, Daniela T Eason, Jacqueline Davies, Sally Reardon, Willie Garavelli, Livia Zuffardi, Orsetta Devriendt, Koen Armstrong, Ruth Johnson, Diana Doco-Fenzy, Martine Bijlsma, Emilia Unger, Sheila Veenstra-Knol, Hermine E Kohlhase, Jürgen Lo, Ivan F M Smith, Janine Clayton-Smith, Jill (2015) European Journal of Human Genetics — Vol. 23, no. 9, p. 1165-1170 (2015)
10. • Journal article

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    'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

    Kollmann, Paul Peeters, André[UCL] Vanakker, Olivier Sznajer, Yves[UCL] (2016) Journal of Neurology : official journal of the European Neurological Society — Vol. 263, no.11, p. 2327-2329 (2016)
11. • Journal article

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    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

    Lovric, Svjetlana Goncalves, Sara Gee, Heon Yung Oskouian, Babak Srinivas, Honnappa Choi, Won-Il Shril, Shirlee Ashraf, Shazia Tan, Weizhen Rao, Jia Airik, Merlin Schapiro, David Braun, Daniela A Sadowski, Carolin E Widmeier, Eugen Jobst-Schwan, Tilman Schmidt, Johanna Magdalena Girik, Vladimir Capitani, Guido Suh, Jung H Lachaussée, Noëlle Arrondel, Christelle Patat, Julie Gribouval, Olivier Furlano, Monica Boyer, Olivia Schmitt, Alain Vuiblet, Vincent Hashmi, Seema Wilcken, Rainer Bernier, Francois P Innes, A Micheil Parboosingh, Jillian S Lamont, Ryan E Midgley, Julian P Wright, Nicola Majewski, Jacek Zenker, Martin Schaefer, Franz Kuss, Navina Greil, Johann Giese, Thomas Schwarz, Klaus Catheline, Vilain Schanze, Denny Franke, Ingolf Sznajer, Yves[UCL] Truant, Anne-Sophie[UCL] Adams, Brigitte Désir, Julie Biemann, Ronald Pei, York Ars, Elisabet Lloberas, Nuria Madrid, Alvaro Dharnidharka, Vikas R Connolly, Anne M Willing, Marcia C Cooper, Megan A Lifton, Richard P Simons, Matias Riezman, Howard Antignac, Corinne Saba, Julie D Hildebrandt, Friedhelm (2017) Journal of Clinical Investigation — Vol. 127, no.3, p. 912-928 (2017)
12. • Journal article

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    Vascular malformations: localized defects in vascular morphogenesis.

    Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2003) Clinical genetics — Vol. 63, no. 5, p. 340-351 (2003)
13. • Journal article

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    The JAK2 V617F mutation is not a cause of central retinal vein occlusion.

    Hermans, Cédric[UCL] Lambert, Catherine[UCL] Slachmuylder, Véronique[UCL] Gala, Jean-Luc[UCL] Detrait, Marie (2008) Thrombosis and haemostasis — Vol. 100, no. 3, p. 515-6 (2008)
14. • Journal article

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    Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6

    Matthews, Randolph P Plumb-Rudewiez, Nicolas[UCL] Lorent, Kristin Gissen, Paul Johnson, Colin A Lemaigre, Frédéric[UCL] Pack, Michael (2005) Development (Cambridge) — Vol. 132, no. 23, p. 5295-5306 (2005)
15. • Journal article

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    Resistance testing in children changing human immunodeficiency virus type 1 protease inhibitor.

    Servais, Jean Hainaut, Marc Schmitz, Véronique Maes, Philip Fransen, Katrien Vaira, Dolores Brichard, Bénédicte[UCL] Arendt, Vic Schneider, François Hemmer, Robert Schmit, Jean-Claude (2002) The Pediatric Infectious Disease Journal — Vol. 21, no. 3, p. 214-220 (2002)
16. • Journal article

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    Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.

    Sands, Tristan T Balestri, Martina Bellini, Giulia Mulkey, Sarah B Danhaive, Olivier[UCL] Bakken, Eliza Hayes Taglialatela, Maurizio Oldham, Michael S Vigevano, Federico Holmes, Gregory L Cilio, Maria-Roberta[UCL] (2016) Epilepsia — Vol. 57, no.12, p. 2019-2030 (2016)
17. • Journal article

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    The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

    Helbig, Ingo Riggs, Erin Rooney Barry, Carrie-Anne Klein, Karl Martin Dyment, David Thaxton, Courtney Sadikovic, Bekim Sands, Tristan T Wagnon, Jacy L Liaquat, Khalida Cilio, Maria-Roberta[UCL] Mirzaa, Ghayda Park, Kristen Axeen, Erika Butler, Elizabeth Bardakjian, Tanya M Striano, Pasquale Poduri, Annapurna Siegert, Rebecca K Grant, Andrew R Helbig, Katherine L Mefford, Heather C (2018) Human mutation — Vol. 39, no.11, p. 1476-1484 (2018)
18. • Journal article

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    The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

    Veiga da Cunha, Maria[UCL] Gerin, Isabelle[UCL] Chen, Yuan-Tsong Lee, Philip J Leonard, James V Maire, Irène Wendel, Udo Vikkula, Miikka[UCL] Van Schaftingen, Emile[UCL] (1999) European journal of human genetics — Vol. 7, no. 6, p. 717-23 (1999)
19. • Journal article

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    Historical overview of analytical methods for the measurement of transthyretin.

    De Nayer, Philippe[UCL] (2002) Clinical Chemistry and Laboratory Medicine : Associated with FESCC and IFCC — Vol. 40, no. 12, p. 1271-1273 (2002)
20. • Journal article

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    Clinical expression and insulin sensitivity in type 2 diabetic patients with heterozygous mutations for haemochromatosis.

    Van Lerberghe, S[UCL] Hermans, Michel[UCL] Dahan, Karin[UCL] Buysschaert, Martin[UCL] (2002) Diabetes & metabolism — Vol. 28, no. 1, p. 33-38 (2002)
21. • Journal article

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    Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

    Nobuta, Hiroko Cilio, Maria Roberta Danhaive, Olivier[UCL] Tsai, Hui-Hsin Tupal, Srinivasan Chang, Sandra M Murnen, Alice Kreitzer, Faith Bravo, Verenice Czeisler, Catherine Gokozan, Hamza Numan Gygli, Patrick Bush, Sean Weese-Mayer, Debra E Conklin, Bruce Yee, Siu-Pok Huang, Eric J Gray, Paul A Rowitch, David Otero, José Javier (2015) Acta neuropathologica — Vol. 130, no. 2, p. 171-183 (2015)
22. • Journal article

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    A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

    Renard, Laurette[UCL] Godfraind, Catherine[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2003) Head & neck — Vol. 25, no. 2, p. 146-151 (2003)
23. • Journal article

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    Mutant presenilin 1 proteins induce cell death and reduce tau-dependent processes outgrowth.

    Leroy, K Boutajangout, A Richardson, J Octave, Jean-Noël[UCL] Lovestone, S Anderton, B H Brion, J P (2003) Neuroscience letters — Vol. 353, no. 3, p. 226-30 (2003)
24. • Journal article

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    Lack of response to quinidine in KCNT1-related neonatal epilepsy.

    Numis, Adam L Nair, Umesh Datta, Anita N Sands, Tristan T Oldham, Michael S Patel, Akash Li, Melody Gazina, Elena Petrou, Steven Cilio, Maria-Roberta[UCL] (2018) Epilepsia — Vol. 59, no.10, p. 1889-1898 (2018)
25. • Journal article

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    New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation

    Yanagisawa, A. Boucher, C. Van den Bergh, Peter[UCL] Cuisset, J. -M.[UCL] Viollet, L. Leturcq, F. Romero, N. B. Quijano-Roy, S. Fardeau, M. Sera, N. Guicheney, P. (2007) Neurology — Vol. 69, no. 12, p. 1254-60 (2007)

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