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1. • Article de périodique

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   Autosomal recessive primary microcephaly due to ASPM mutations: An update

   Létard, Pascaline Drunat, Séverine Vial, Yoann Duerinckx, Sarah Ernault, Anais Amram, Daniel Arpin, Stéphanie Bertoli, Marta Busa, Tiffany Ceulemans, Berten Desir, Julie Doco-Fenzy, Martine Elalaoui, Siham Chafai Devriendt, Koenraad Faivre, Laurence Francannet, Christine Geneviève, David Gérard, Marion Gitiaux, Cyril Julia, Sophie Lebon, Sébastien Lubala, Toni Mathieu-Dramard, Michèle Maurey, Hélène Metreau, Julia Nasserereddine, Sanaa Nizon, Mathilde Pierquin, Geneviève Pouvreau, Nathalie Rivier-Ringenbach, Clothilde Rossi, Massimiliano Schaefer, Elise Sefiani, Abdelaziz Sigaudy, Sabine Sznajer, Yves[UCL] Tunca, Yusuf Guilmin Crepon, Sophie Alberti, Corinne Elmaleh-Bergès, Monique Benzacken, Brigitte Wollnick, Bernd Woods, C. Geoffrey Rauch, Anita Abramowicz, Marc El Ghouzzi, Vincent Gressens, Pierre Verloes, Alain Passemard, Sandrine (2018) Human Mutation — Vol. 39, no. 3, p. 319-332 (2018)
2. • Article de périodique

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   Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.

   Laterre, Marie[UCL] Bernard, Pierre[UCL] Vikkula, Miikka[UCL] Sznajer, Yves[UCL] (2018) Prenatal Diagnosis — Vol. 38, no. 5, p. 337-343 (2018)
3. • Article de périodique

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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)
4. • Article de périodique

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   Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

   Navarro Moreno, Constanza[UCL] Delestienne, Amaury[UCL] Marbaix, Etienne[UCL] Aydin, Selda[UCL] Hörtnagel, Konstanze Lechner, Sarah Sznajer, Yves[UCL] Beauloye, Véronique[UCL] Maiter, Dominique[UCL] Lysy, Philippe[UCL] (2018) Hormone research in paediatrics — Vol. 89, no. 6, p. 423-433 (2018)
5. • Article de périodique

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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)
6. • Article de périodique

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   Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

   van de Kamp, J M Betsalel, O T Mercimek-Mahmutoglu, S Abulhoul, L Grünewald, S Anselm, I Azzouz, H Bratkovic, D de Brouwer, A Hamel, B Kleefstra, T Yntema, H Campistol, J Vilaseca, M A Cheillan, D D'Hooghe, M Diogo, L Garcia, P Valongo, C Fonseca, M Frints, S Wilcken, B von der Haar, S Meijers-Heijboer, H E Hofstede, F Johnson, D Kant, S G Lion-Francois, L Pitelet, G Longo, N Maat-Kievit, J A Monteiro, J P Munnich, A Muntau, A C Nassogne, Marie-Cécile[UCL] Osaka, H Ounap, K Pinard, J M Quijano-Roy, S Poggenburg, I Poplawski, N Abdul-Rahman, O Ribes, A Arias, A Yaplito-Lee, J Schulze, A Schwartz, C E Schwenger, S Soares, G Sznajer, Yves[UCL] Valayannopoulos, V Van Esch, H Waltz, S Wamelink, M M C Pouwels, P J W Errami, A van der Knaap, M S Jakobs, C Mancini, G M Salomons, G S (2013) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 50, no. 7, p. 463-472 (2013)
7. • Article de périodique

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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)
8. • Article de périodique

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   EDNRBmutations cause Waardenburg syndrome type II in the heterozygous state

   Issa, Sarah Bondurand, Nadege Faubert, Emmanuelle Poisson, Sylvain Lecerf, Laure Nitschke, Patrick Deggouj, Naima[UCL] Loundon, Natalie Jonard, Laurence David, Albert Sznajer, Yves[UCL] Blanchet, Patricia Marlin, Sandrine Pingault, Veronique (2017) Human Mutation — Vol. 38, no. 5, p. 581-593 (2017)
9. • Article de périodique

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   “Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies

   Beleza-Meireles, Ana[UCL] Steenhaut, Patricia[UCL] Hocq, Catheline[UCL] Clapuyt, Philippe[UCL] Bernard, Pierre[UCL] Debauche, Christian[UCL] Sznajer, Yves[UCL] (2017) European Journal of Medical Genetics — Vol. 60, no.2, p. 100-104 (2017)
10. • Article de périodique

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    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
11. • Article de périodique

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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)
12. • Article de périodique

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    Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports

    Galliani, Eva Burglen, Lydie Kadlub, Natacha Just, Walter Sznajer, Yves[UCL] de Villemeur, Thierry Billette Soupre, Véronique Picard, Arnaud Vazquez, Marie-Paule (2012) Cleft Palate - Craniofacial Journal — Vol. 49, no.3, p. 357-364 (2012)
13. • Article de périodique

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    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

    Piard, J. Aral, B. Vabres, P. Holder-Espinasse, M. Mégarbané, A. Gauthier, S. Capra, V. Pierquin, G. Callier, P. Baumann, C. Pasquier, L. Baujat, G. Martorell, L. Rodriguez, A. Brady, A.F. Boralevi, F. González-Enseñat, M.A. Rio, M. Bodemer, C. Philip, N. Cordier, M.-P. Goldenberg, A. Demeer, B. Wright, M. Blair, E. Puzenat, E. Parent, P. Sznajer, Yves[UCL] Francannet, C. Didonato, N. Boute, O. Barlogis, V. Moldovan, O. Bessis, D. Coubes, C. Tardieu, M. Cormier-Daire, V. Sousa, A.B. Franques, J. Toutain, A. Tajir, M. Elalaoui, S.C. Geneviève, D. Thevenon, J. Courcet, J.-B. Rivière, J.-B. Collet, C. Gigot, N. Faivre, L. Thauvin-Robinet, C. (2015) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 87, no. 3, p. 244-251 (2015)
14. • Communication

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    Compound heterozygous mutations in col7A1 gene in a girl with unusual phenotype of dystrophic epidermolysis bullosa

    Colmant, Caroline[UCL] Sznajer, Yves[UCL] Baeck, Marie[UCL] Kamsteeg, Paul A Spanoudi-Kitrimi, Ifigenia[UCL] Tennstedt, Dominique[UCL] Dekeuleneer, Valérie[UCL] (2016) —
15. • Article de périodique

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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)
16. • Article de périodique

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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)
17. • Article de périodique

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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)
18. • Article de périodique

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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)
19. • Article de périodique

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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)
20. • Article de périodique

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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)
21. • Article de périodique

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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)
22. • Article de périodique

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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)
23. • Article de périodique

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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)
24. • Article de périodique

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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)
25. • Article de périodique

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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)

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