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Page 1
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Among authors: vilain c. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 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: vilain c. 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: vilain c. Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. Genet Med. 2019. PMID: 30696996 Free PMC article.
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Among authors: vilain c. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: vilain c. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, Edwards D, Bernard V, Dournaud P, Drunat S, Vermelle-Andrzejewski M, Vilain C, Abramowicz M, Désir J, Bonaventure J, Gareil N, Boncompain G, Csaba Z, Perez F, Passemard S, Gressens P, El Ghouzzi V. Dupuis N, et al. Among authors: vilain c. Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652408 Free article.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Vincent M, et al. Among authors: vilain c. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Genet Med. 2016. PMID: 25790162 Free article.
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Among authors: vilain c. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: vilain c. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: vilain c. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
148 results