Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders von Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Chassaing, Nicolas, Coubes, Christine, Brischoux-Boucher, Elise, Edouard, Thomas, Dulac, Yves, Aubert-Mucca, Marion, Lavabre-Bertrand, Thierry, Plaisancié, Julie, Khau Van Kien, Philippe

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The HNF1B score is a simple tool to select patients for HNF1B gene analysis von Faguer, Stanislas, Chassaing, Nicolas, Bandin, Flavio, Prouheze, Cathie, Garnier, Arnaud, Casemayou, Audrey, Huart, Antoine, Schanstra, Joost P., Calvas, Patrick, Decramer, Stéphane, Chauveau, Dominique

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Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia von Plaisancié, Julie, Chesneau, Bertrand, Fares-Taie, Lucas, Rozet, Jean-Michel, Pechmeja, Jacmine, Noero, Julien, Gaston, Véronique, Bailleul-Forestier, Isabelle, Calvas, Patrick, Chassaing, Nicolas

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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye von Chesneau, Bertrand, Ivashchenko, Véronique, Habib, Christophe, Gaston, Véronique, Escudié, Fréderic, Morel, Godelieve, Capri, Yline, Vincent-Delorme, Catherine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases von Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development von Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., Ragge, Nicola K.

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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia von Tamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma von Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes von Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis von Zazo-Seco, Celia, Plaisancié, Julie, Bitoun, Pierre, Corton, Marta, Arteche, Ana, Ayuso, Carmen, Schneider, Adele, Zafeiropoulou, Dimitra, Gilissen, Christian, Roche, Olivier, Frémont, Felix, Calvas, Patrick, Slavotinek, Anne, Ragge, Nicola, Chassaing, Nicolas

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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network von Chassaing, Nicolas, Davis, Erica E, McKnight, Kelly L, Niederriter, Adrienne R, Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C, Faguer, Stanislas, Calvas, Patrick

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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes von Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival von Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia von Simon, Delphine, Laloo, Benoit, Barillot, Malika, Barnetche, Thomas, Blanchard, Camille, Rooryck, Caroline, Marche, Michèle, Burgelin, Ingrid, Coupry, Isabelle, Chassaing, Nicolas, Gilbert-Dussardier, Brigitte, Lacombe, Didier, Grosset, Christophe, Arveiler, Benoit

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Expanding the KIF4A‐associated phenotype von Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel

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Searching for secondary findings: considering actionability and preserving the right not to know von Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F, Nizon, Mathilde, Vincent, Marie

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Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients von Severino-Freire, Maella, Maza, Aude, Lombardi, Maria Paola, Tournier, Emilie, Chassaing, Nicolas, Mazereeuw-Hautier, Juliette

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From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up von Thomas, Charlotte, Vaysse, Frédéric, Courset, Teva, Nasr, Karim, Courtois, Bruno, L’Homme, Arnaud, Chassaing, Nicolas, Vinel, Alexia, Bailleul-Forestier, Isabelle, Raynaldy, Luc, Laurencin-Dalicieux, Sara

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Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature von Chesneau, Bertrand, Edouard, Thomas, Dulac, Yves, Colineaux, Hélène, Langeois, Maud, Hanna, Nadine, Boileau, Catherine, Arnaud, Pauline, Chassaing, Nicolas, Julia, Sophie, Jondeau, Guillaume, Plancke, Aurélie, Khau Van Kien, Philippe, Plaisancié, Julie

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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria von Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamamoto, Ken, Iwai, Masaru, Tanaka, Toshihiro, Nakamura, Yusuke, Kimura, Wataru, Bole-Feysot, Christine, Vilotte, Marthe, Odent, Sylvie, Vilotte, Jean-Luc, Munnich, Arnold, Regnier, Alain, Chassaing, Nicolas, De Baere, Elfride, Raymond-Letron, Isabelle, Kaplan, Josseline, Calvas, Patrick, Roche, Olivier, Rozet, Jean-Michel

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