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Page 1
A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. Meerschaut I, et al. Among authors: destree a. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. Genet Med. 2020. PMID: 31316167 Free article.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilso… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: destree a. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: destree a. Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. Genet Med. 2019. PMID: 30696996 Free PMC article.
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: destree a. Mol Genet Genomic Med. 2021 Sep;9(9):e1768. doi: 10.1002/mgg3.1768. Epub 2021 Aug 17. Mol Genet Genomic Med. 2021. PMID: 34402213 Free PMC article.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study; Smith J, Clayton-Smith J. Gannon T, et al. Among authors: destree a. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K. Vanakker O, et al. Among authors: destree a. Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Eur J Med Genet. 2014. PMID: 24534801 Review.
72 results