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Displaying 21 results.
    • Journal article
    Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.
    Mbuyi-Musanzayi, Sébastien Kasamba, Eric I Revencu, Nicole[UCL] Lukusa, Prosper T Kalenga, Prosper M Tshilombo, François K Reychler, Hervé[UCL] Devriendt, Koenraad (2020) Clinical dysmorphology — Vol. 29, no.1, p. 24-27 (2020)
    • Journal article
    DNA methylation profiling and genomic analysis in 20 children with short stature who were born small-for-gestational age.
    Peeters, Silke Declerck, Ken Thomas, Muriel Boudin, Eveline Beckers, Dominique[UCL] Chivu, Olimpia Heinrichs, Claudine Devriendt, Koenraad de Zegher, Francis Van Hul, Wim Vanden Berghe, Wim De Schepper, Jean Rooman, Raoul Mortier, Geert WES-BESPEED Study Group (2020) The Journal of clinical endocrinology and metabolism — Vol. 105, no. 12, p. dgaa465 (2020)
    • Journal article
    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)
    • Journal article
    Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1
    Feather, SA Malcolm, S. Woolf, AS Wright, V Blaydon, D Reid, CJD Flinter, FA Proesmans, W. Devriendt, Koenraad[UCL] Carter, J Warwicker, P Goodship, THJ Goodship, JA (2000) American Journal of Human Genetics — Vol. 66, no. 4, p. 1420-1425 (2000)
    • Journal article
    Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
    Irrthum, Alexandre[UCL] Devriendt, Koenraad Chitayat, David Matthijs, Gert Glade, Conrad Steijlen, Peter M Fryns, Jean-Pierre Van Steensel, Maurice A M Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 72, no. 6, p. 1470-1478 (2003)
    • Journal article
    The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
    Jia, Yaojuan Louw, Jacoba J Breckpot, Jeroen Callewaert, Bert Barréa, Catherine[UCL] Sznajer, Yves[UCL] Gewillig, Marc Souche, Erika Dehaspe, Luc Vermeesch, Joris Robert Lambrechts, Diether Devriendt, Koenraad Corveleyn, Anniek (2015) American Journal of Medical Genetics. Part A — Vol. 167, no. 8, p. 1822-1829 (2015)
    • Journal article
    Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
    van Riel, Margot Brison, Nathalie Baetens, Machteld Blaumeiser, Bettina Boemer, François Bourlard, Laura Bulk, Saskia De Leener, Anne[UCL] Désir, Julie Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle[UCL] Fieremans, Nathalie Fieuw, Annelies Gatot, Jean-Stéphane Grisart, Bernard Janssens, Sandra Khudashvili, Naïri Lannoo, Lore Marichal, Axel Meunier, Colombine Palmeira, Leonor Parijs, Ilse Pichon, Bruno Roets, Ellen Sammels, Eva Smits, Guillaume Suenaert, Marion Sznajer, Yves[UCL] Van den Bogaert, Kris Vancoillie, Leen Vandeputte, Lotte Vantroys, Elise Vermeesch, Joris Robert Janssens, Katrien (2021) Obstetrics and gynecology — Vol. 137, no. 6, p. 1102-1108 (2021)
    • Journal article
    The X-linked infantile spasms syndrome (MIM 308350) maps to xp11.4-Xpter in two pedigrees
    Claes, S Devriendt, Koenraad[UCL] Lagae, Lieven[UCL] Ceulemans, B. Dom, L Casaer, P. Raeymaekers, P Cassiman, JJ. Fryns, JP. (1997) Annals of Neurology — Vol. 42, no. 3, p. 360-364 (1997)
    • Journal article
    Identification of two novel missense mutations in the CSX/NKX2-5 gene encoding a cardiac specific transcription factor.
    Gutierrez-Roelens, Ilse[UCL] Sluysmans, Thierry[UCL] Devriendt, Koenraad[UCL] Gewillig, M Vikkula, Miikka[UCL] (2001) American Journal of Human Genetics — Vol. 69, no. 4, p. 603-603 (2001)
    • Journal article
    Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50)
    Claes, S Vogels, A. Holvoet, M Devriendt, Koenraad[UCL] Raeymaekers, P Cassiman, JJ. Fryns, JP. (1997) American Journal of Medical Genetics — Vol. 73, no. 4, p. 474-479 (1997)
    • Journal article
    Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique.
    Mbuyi-Musanzayi, Sébastien Tshilombo Katombe, François Lukusa Tshilobo, Prosper Kalenga Mwenze Kayamba, Prosper Devriendt, Koenraad Reychler, Hervé[UCL] (2017) International Journal of Oral and Maxillofacial Surgery — Vol. 46, no.10, p. 1338-1345 (2017)
    • Journal article
    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)
    • Journal article
    Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
    Mbayabo, Gloire Lumbala Kabuyi, Paul Ngole, Mamy Lumaka, Aimé Race, Valerie Maisin, Diane[UCL] Gruson, Damien[UCL] Matthijs, Gert Minga, Tite Mikobi Devriendt, Koenraad Van Geet, Chris Tshilobo, Prosper Lukusa (2022) Journal of clinical laboratory analysis — Vol. 36, no.8, p. e24593 [1-6] (2022)
    • Journal article
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    Hannes, F. D.[UCL] Sharp, A. J. Mefford, H. C. de Ravel, Thomy[UCL] Ruivenkamp, C. A. Breuning, M. H. Fryns, J-P[UCL] Devriendt, Koenraad[UCL] Van Buggenhout, Griet[UCL] Vogels, A.[UCL] Stewart, H. Hennekam, R. C.[UCL] Cooper, G. M. Regan, R. Knight, S. J. L. Eichler, E. E. Vermeesch, J. R.[UCL] (2009) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 46, no. 4, p. 223-232 (2009)
    • Journal article
    Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
    Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, M. H. ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, Koenraad[UCL] Proesmans, W. Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W. Seemanova, E Engel, W (1999) American Journal of Human Genetics — Vol. 64, no. 2, p. 435-445 (1999)
    • Journal article
    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
    De Baere, E. Courtens, Winnie[UCL] Devriendt, Koenraad[UCL] (2001) Human Molecular Genetics — Vol. 10, no. 15, p. 1591-1600 (2001)
    • Journal article
    Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Rauch, Anita Devriendt, Koenraad[UCL] Hennekam, Raoul[UCL] de Zegher, Francis[UCL] (2008) Science — Vol. 319, no. 5864, p. 816-819 (2008)
    • Journal article
    Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
    Irrthum, A Alitalo, Kari Karkkainen, M J Devriendt, Koenraad[UCL] Vikkula, Miikka[UCL] (2000) American journal of human genetics — Vol. 67, no. 2, p. 295-301 (2000)
    • Speech
    Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia.
    Irrthum, A Devriendt, Koenraad[UCL] Chitayat, D Matthijs, G. Mertens, A. Glade, C Steijlen, PM Fryns, JP. Van Steensel, MAM Vikkula, Miikka[UCL] (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES(California)
    • Journal article
    Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
    Reynaert, Nele de Zegher, Francis Francois, Inge Devriendt, Koenraad Beckers, Dominique[UCL] Casteels, Kristina (2016) Hormone Research in Paediatrics : from developmental endocrinology to clinical research — Vol. 85, no. 4, p. 288-290 (2016)
    • Journal article
    IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign.
    Desmyter, Laurence[UCL] Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Boute, O Lees, M François, Geneviève[UCL] Dumoulin, Christine[UCL] Sznajer, Yves[UCL] Moncla, A Benateau, H. Claes, K Devriendt, Koenraad Mathieu, M. Van Maldergem, L. Addor, M.-C. Drouin-Garraud, V Mortier, G. Bouma, M Dieux-Coeslier, A Genevieve, D Goldenberg, A Gozu, A Makrythanasis, P McEntagart, U Sanchez, A. Vilain, C. Vermeer, S Connell, F Verheij, J Manouvrier, S Pierquin, G. Odent, S Holder-Espinasse, M Vincent-Delorme, C Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2010) Molecular Syndromology — Vol. 1, no. 2, p. 67-74 (2010)