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1. • Speech

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   Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency

   Paquay, Stéphanie[UCL] Sluysmans, Thierry[UCL] Loeckx, Isabelle Sznajer, Yves[UCL] Vachiery, Jean-Luc Seneca, Sara Nassogne, Marie-Cécile[UCL] (2017) Belgian Society of Pediatric Neurology — Bruges
2. • Journal article

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   Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2.

   Ghalamkarpour, Arash Debauche, Christian[UCL] Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) The Journal of pediatrics — Vol. 155, no. 1, p. 90-3 (2009)
3. • Journal article

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   A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

   Van den Bergh, Peter[UCL] Sznajer, Yves[UCL] Van Parijs, Vinciane[UCL] van Tol, Walinka Wevers, Ron Allan Lefeber, Dirk J Xu, Liwen Lek, Monkol MacArthur, Daniel G Johnson, Katherine Phillips, Lauren Töpf, Ana Straub, Volker (2017) Neuromuscular Disorders — Vol. 27, no. 11, p. 1043-1046 (2017)
4. • Journal article

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   Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

   Van den Bergh, Peter[UCL] Sznajer, Yves[UCL] Van Parijs, Vinciane[UCL] van Tol, Walinka Wevers, Ron Allan Lefeber, Dirk J Xu, Liwen Lek, Monkol MacArthur, Daniel G Johnson, Katherine Phillips, Lauren Töpf, Ana Straub, Volker (2018) Neuromuscular Disorders — Vol. 28, no. 1, p. 101 (2018)
5. • Journal article

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   Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

   Ostrowski, Philip J Zachariou, Anna Loveday, Chey Baralle, Diana Blair, Edward Douzgou, Sofia Field, Michael Foster, Alison Kyle, Claire Lachlan, Katherine Mansour, Sahar Naik, Swati Rea, Gillian Smithson, Sarah Sznajer, Yves[UCL] Thompson, Elizabeth Cole, Trevor Tatton-Brown, Katrina (2019) American journal of medical genetics. Part C, Seminars in medical genetics — Vol. 181, no. 4, p. 638-643 (2019)
6. • Journal article

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   Defining a Centiloid scale threshold predicting long-term progression to dementia in patients attending the memory clinic: an [18F] flutemetamol amyloid PET study

   Hanseeuw, Bernard[UCL] Malotaux, Vincent[UCL] Dricot, Laurence[UCL] Quenon, Lisa[UCL] Sznajer, Yves[UCL] Cerman, Jiri Woodard, John[UCL] Buckley, Christopher Farrar, Gill Ivanoiu, Adrian[UCL] Lhommel, Renaud[UCL] (2021) European Journal of Nuclear Medicine and Molecular Imaging — Vol. 48, no. 1, p. 302-310 (2021)
7. • Journal article

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   PEDIA: prioritization of exome data by image analysis.

   Hsieh, Tzung-Chien Mensah, Martin A Pantel, Jean T Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi B Biskup, Saskia Borisov, Oleg Braaten, Oivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja Eden, Hilda David Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Đukić, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J Mangold, Elisabeth Reina, Purificación Marín Carrascal, Antonio Martinez Mitter, Diana Herrador, Laura Morlan Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole[UCL] Fagerberg, Christina Ringmann Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kyung Sznajer, Yves[UCL] Thiel, Christian T Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wiśniewska, Marzena Wollnik, Bernd Yeung, Ming W Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M (2019) Genetics in medicine — Vol. 21, no.12, p. 2807-2814 (2019)
8. • Journal article

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   ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

   Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves[UCL] Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride (2019) Genetics in medicine — Vol. 21, no.8, p. 1761-1771 (2019)
9. • Journal article

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   Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations

   Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)
10. • Journal article

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    Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

    Biard, Jean-Marc[UCL] Steenhaut, Patricia[UCL] Bernard, Pierre[UCL] Race, Valérie Sznajer, Yves[UCL] (2019) European journal of obstetrics, gynecology, and reproductive biology — Vol. 240, p. 232-241 (2019)
11. • Journal article

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    Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy

    Sibille, Charles-Antoine Triffaux, Michel Claes, Kathleen Sznajer, Yves[UCL] Gille, Michel (2013) Revue Neurologique — Vol. 169, no. 11, p. 917-919 (2013)
12. • Journal article

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    Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

    Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak Goyens, Philippe (2012) JIMD reports — Vol. 4, p. 103-108 (2012)
13. • Journal article

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    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Szafranski, Przemyslaw Gambin, Tomasz Dharmadhikari, Avinash V Akdemir, Kadir Caner Jhangiani, Shalini N Schuette, Jennifer Godiwala, Nihal Yatsenko, Svetlana A Sebastian, Jessica Madan-Khetarpal, Suneeta Surti, Urvashi Abellar, Rosanna G Bateman, David A Wilson, Ashley L Markham, Melinda H Slamon, Jill Santos-Simarro, Fernando Palomares, María Nevado, Julián Lapunzina, Pablo Chung, Brian Hon-Yin Wong, Wai-Lap Chu, Yoyo Wing Yiu Mok, Gary Tsz Kin Kerem, Eitan Reiter, Joel Ambalavanan, Namasivayam Anderson, Scott A Kelly, David R Shieh, Joseph Rosenthal, Taryn C Scheible, Kristin Steiner, Laurie Iqbal, M Anwar McKinnon, Margaret L Hamilton, Sara Jane Schlade-Bartusiak, Kamilla English, Dawn Hendson, Glenda Roeder, Elizabeth R DeNapoli, Thomas S Littlejohn, Rebecca Okashah Wolff, Daynna J Wagner, Carol L Yeung, Alison Francis, David Fiorino, Elizabeth K Edelman, Morris Fox, Joyce Hayes, Denise A Janssens, Sandra De Baere, Elfride Menten, Björn Loccufier, Anne Vanwalleghem, Lieve Moerman, Philippe Sznajer, Yves[UCL] Lay, Amy S Kussmann, Jennifer L Chawla, Jasneek Payton, Diane J Phillips, Gael E Brosens, Erwin Tibboel, Dick de Klein, Annelies Maystadt, Isabelle Fisher, Richard Sebire, Neil Male, Alison Chopra, Maya Pinner, Jason Malcolm, Girvan Peters, Gregory Arbuckle, Susan Lees, Melissa Mead, Zoe Quarrell, Oliver Sayers, Richard Owens, Martina Shaw-Smith, Charles Lioy, Janet McKay, Eileen de Leeuw, Nicole Feenstra, Ilse Spruijt, Liesbeth Elmslie, Frances Thiruchelvam, Timothy Bacino, Carlos A Langston, Claire Lupski, James R Sen, Partha Popek, Edwina Stankiewicz, Paweł (2016) Human Genetics — Vol. 135, no.5, p. 569-586 (2016)
14. • Journal article

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    Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

    Bloch, Mercedes[UCL] Leonard, Anissa[UCL] DIPLAS, Andreas[UCL] Pepermans, Xavier[UCL] Emanuel, Beverly[UCL] Rocca, Maria Santa[UCL] Revencu, Nicole[UCL] Sznajer, Yves[UCL] (2014) American Journal of Medical Genetics. Part A — Vol. 164, no. 7, p. 1789-1794 (2014)
15. • Speech

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    Deficiency of subunit 6 of the conserved oligomeric golgi complex (COG6-CDG): second patient, different phenotype

    Goyens, Philippe Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak (2012) Annual Symposium of the Society for the Study of Inborn Errors of Metabolism — (United Kingdom) Birmingham
16. • Journal article

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    Neurobehavioural vulnerability and autistic traits in RASopathies.

    Sznajer, Yves[UCL] (2017) Developmental Medicine and Child Neurology — Vol. 59, no.5, p. 461 (2017)
17. • Speech

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    PP03.10 – 2967: Niemann-Pick C disease: Diagnostic challenge

    Gobert, Cyrielle[UCL] Sznajer, Yves[UCL] Clapuyt, Philippe[UCL] Latour , P.[UCL] Nassogne, Marie-Cécile[UCL] (2015) 11th European Paediatric Neurology Society Congress 2015 — (Austria) Vienna
18. • Journal article

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    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

    Coutelier, Marie[UCL] Coarelli, Giulia Monin, Marie-Lorraine Konop, Juliette Davoine, Claire-Sophie Tesson, Christelle Valter, Rémi Anheim, Mathieu Behin, Anthony Castelnovo, Giovanni Charles, Perrine David, Albert Ewenczyk, Claire Fradin, Mélanie Goizet, Cyril Hannequin, Didier Labauge, Pierre Riant, Florence Sarda, Pierre Sznajer, Yves[UCL] Tison, François Ullmann, Urielle Van Maldergem, Lionel Mochel, Fanny Brice, Alexis Stevanin, Giovanni Durr, Alexandra SPATAX network (2017) Brain : a journal of neurology — Vol. 140, no.6, p. 1579-1594 (2017)
19. • 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)
20. • Journal article

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    Myhre and LAPS syndromes: Clinical and molecular review of 32 patients

    Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M. Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E. Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves[UCL] Tolmie, John Touraine, Renaud Van Den Ende, Jenneke Van Der Aa, Nathalie Van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie (2014) European Journal of Human Genetics — Vol. 22, no. 11, p. 1272-1277 (2014)
21. • Journal article

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    Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.

    Vergult, Sarah Hoogeboom, A Jeannette M Bijlsma, Emilia K Sante, Tom Klopocki, Eva De Wilde, Bram Jongmans, Marjolijn Thiel, Christian Verheij, Joke B G M Perez-Aytes, Antonio Van Esch, Hilde Kuechler, Alma Barge-Schaapveld, Daniela Q C M Sznajer, Yves[UCL] Mortier, Geert Menten, Björn (2013) Genetics in Medicine — Vol. 15, no.3, p. 195-202 (2013)
22. • Journal article

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    Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency

    Deconinck, Nicolas Nassogne, Marie-Cécile[UCL] Messaaoui, Anissa Ziereisen, France Kadhim, Hazim Sznajer, Yves Pelc, Karine Vanier, Marie T. Danloy, Bernard[UCL] (2008) European Journal of Paediatric Neurology — Vol. 12, no. 1, p. 46-50 (2008)
23. • Journal article

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    Autosomal insertional translocation mimicking an X-linked mode of inheritance.

    Thierry, Gaelle Pichon, Olivier Briand, Annaig Poulain, Damien Sznajer, Yves[UCL] David, Albert Le Caignec, Cédric (2013) European Journal of Medical Genetics — Vol. 56, no.1, p. 46-49 (2013)
24. • Speech

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    The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract]

    Muys,, J. Janssens, K. Vanakker, O. Vilain, C. Smits, G. Bandelier, Claude[UCL] Bulk, S. Caberg, J. De Leener, A. De Rademaeker, M. de Ravel de l'Argentière, T. Desir, J. Destree, A. Dheedene, A. Gaillez, S. Grisart, B. Hellin, A. Janssens, S. Keymolen, K. Menten, B. Pichon, B. Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, S. Staessens, C. Van Den Bogaert, A. Van Den Bogaert, K. Vermeesch, J. Sznajer, Yves[UCL] Blaumeiser, B. Jacquemyn, Y. Devriendt, K. (2015) European Human Genetics Conference 2015 — (Scotland) Glasgow
25. • Journal article

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    Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

    De Greef, Jessica C. Wang, Jun Balog, Judit Den Dunnen, Johan T. Frants, Rune R. Straasheijm, Kirsten R. Aytekin, Caner Van Der Burg, Mirjam Duprez, Laurence Ferster, Alina Gennery, Andrew R. Gimelli, Giorgio Reisli, Ismail Schuetz, Catharina Schulz, Ansgar Smeets, Dominique F.C.M. Sznajer, Yves[UCL] Wijmenga, Cisca Van Eggermond, Marja C. Van Ostaijen-Ten Dam, Monique M. Lankester, Arjan C. Van Tol, Maarten J.D. Van Den Elsen, Peter J. Weemaes, Corry M. Van Der Maarel, Silvre M. (2011) American Journal of Human Genetics — Vol. 88, no. 6, p. 796-804 (2011)

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