Search Results - "Niel Bütschi, Florence"

Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type by Campos‐Xavier, Belinda, Rogers, R. Curtis, Niel‐Bütschi, Florence, Ferreira, Catarina, Unger, Sheila, Spranger, Jürgen, Superti‐Furga, Andrea

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability by Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

“…Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global…”
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Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy by Kumps, Camille, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila

“…Non-invasive prenatal testing (NIPT) is increasingly used in routine practice due to its high sensitivity and specificity in detecting fetal chromosomal…”
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Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved by Lam, Jenny, Stoppa-Vaucher, Sophie, Antoniou, Maria Cristina, Bouthors, Thérèse, Ruiz, Inge, Sekarski, Nicole, Rutz, Tobias, Fries, Sophie, Binz, Pierre Alain, Bütschi, Florence Niel, Vulliemoz, Nicolas, Gawlik, Aneta, Pitteloud, Nelly, Hauschild, Michael, Busiah, Kanetee

“…Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess…”
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CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures by Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis by de Prada Merino, Ana, Bütschi, Florence Niel, Bouchardy, Isabelle, Beckmann, Jacques S, Morris, Michael A, Hafen, Gaudenz M, Fellmann, Florence

“…Abstract Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their…”
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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs by Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

“…Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%–1% of individuals with autism…”
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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator by Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

“…Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks 1 , but the exact nature and extent of their involvement in human…”
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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice by Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien

“…The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with…”
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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn by Zufferey, Flore, Martinet, Danielle, Osterheld, Maria-Chiara, Niel-Bütschi, Florence, Giannoni, Eric, Schmutz, Nathalie Besuchet, Xia, Zhilian, Beckmann, Jacques S, Shaw-Smith, Charles, Stankiewicz, Pawel, Langston, Claire, Fellmann, Florence

“…Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary…”
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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations by Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

“…To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a…”
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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridation (array CGH) in persistent pulmonary hypertension of the newborn by Zufferey, Flore, Martinet, Danielle, Osterheld, Maria-Chiara, Niel-Bütschi, Florence, Giannoni, Eric, Besuchet, Schmutz Nathalie, Beckmann, Jacques S., Xia, Zhilian, Shaw-Smith, Charles, Stankiewicz, Pawel, Langston, Claire, Fellmann, Florence

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Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations by Niel-Butschi, Florence, Kantelip, Bernadette, Iwaszkiewicz, Justyna, Zoete, Vincent, Boimard, Mathieu, Delpech, Marc, Bourges, Jean-Louis, Renard, Gilles, D'Hermies, François, Pisella, Pierre-Jean, Hamel, Christian, Delbosc, Bernard, Valleix, Sophie

“…Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and…”
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