Complete Human and Rat Ex Vivo Spermatogenesis from Fresh or Frozen Testicular Tissue von Perrard, Marie-Hélène, Sereni, Nicolas, Schluth-Bolard, Caroline, Blondet, Antonine, D Estaing, Sandrine Giscard, Plotton, Ingrid, Morel-Journel, Nicolas, Lejeune, Hervé, David, Laurent, Durand, Philippe

Volltext

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication von Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry‐Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux‐Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne‐Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoît, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlène, Piard, Juliette, Putoux, Audrey, Rama, Mélanie, Roze‐Guillaumey, Virginie, Schluth‐Bolard, Caroline, Till, Marianne, Trouvé, Chloé, Vieville, Gaëlle, Rooryck, Caroline, Sanlaville, Damien, Chatron, Nicolas

Volltext

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing von Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

Volltext

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A von Jourdy, Yohann, Bardel, Claire, Fretigny, Mathilde, Diguet, Flavie, Rollat‐Farnier, Pierre‐Antoine, Mathieu, Marie‐Laure, Labalme, Audrey, Sanlaville, Damien, Edery, Patrick, Vinciguerra, Christine, Schluth‐Bolard, Caroline

Volltext

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France von Hureaux, Marguerite, Guterman, Sarah, Hervé, Bérénice, Till, Marianne, Jaillard, Sylvie, Redon, Sylvie, Valduga, Myléne, Coutton, Charles, Missirian, Chantal, Prieur, Fabienne, Simon‐Bouy, Brigitte, Beneteau, Claire, Kuentz, Paul, Rooryck, Caroline, Gruchy, Nicolas, Marle, Nathalie, Plutino, Morgane, Tosca, Lucie, Dupont, Celine, Puechberty, Jacques, Schluth‐Bolard, Caroline, Salomon, Laurent, Sanlaville, Damien, Malan, Valérie, Vialard, François

Volltext

Comment on “Trisomy 21 noninvasive prenatal testing for twin pregnancies” von Chatron, Nicolas, Raymond, Laure, Schluth‐Bolard, Caroline, Bardel, Claire, Huissoud, Cyril, Nouchy, Marc, Sanlaville, Damien, Massoud, Mona

Volltext

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel‐Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat‐Farnier, Pierre‐Antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐Noëlle Bonnet, Putoux, Audrey, Raskin‐Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth‐Bolard, Caroline

Volltext

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) von Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline

Volltext

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains von Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.

Volltext

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion von Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi, Massimiliano, Flori, Elisabeth, Alembik, Yves, Stewart, Helen, McParland, Joanna, Bernardini, Laura, Castelluccio, Pia, Roos, Laura, Tümer, Zeynep, Fagan, Kerry, Hackett, Anna, Bain, Nicole, van Haeringen, Arie, Ruivenkamp, Claudia, Benzacken, Brigitte, Sanlaville, Damien, Edery, Patrick, Aboura, Azzedine, Schluth-Bolard, Caroline

Volltext

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis von Chatron, Nicolas, Cassinari, Kevin, Quenez, Olivier, Baert‐Desurmont, Stéphanie, Bardel, Claire, Buisine, Marie‐Pierre, Calpena, Eduardo, Capri, Yline, Corominas Galbany, Jordi, Diguet, Flavie, Edery, Patrick, Isidor, Bertrand, Labalme, Audrey, Le Caignec, Cedric, Lévy, Jonathan, Lecoquierre, François, Lindenbaum, Pierre, Pichon, Olivier, Rollat‐Farnier, Pierre‐Antoine, Simonet, Thomas, Saugier‐Veber, Pascale, Tabet, Anne‐Claude, Toutain, Annick, Wilkie, Andrew O. M., Lesca, Gaetan, Sanlaville, Damien, Nicolas, Gaël, Schluth‐Bolard, Caroline

Volltext

Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature von Capron, Céline, Januel, Louis, Vieville, Gaëlle, Jaillard, Sylvie, Kuentz, Paul, Salaun, Gaëlle, Nadeau, Gwenaël, Clement, Patrice, Brechard, Marie Pierre, Herve, Bérénice, Dupont, Jean Michel, Gruchy, Nicolas, Chambon, Pascal, Abdelhedi, Fatma, Dahlen, Eric, Vago, Philippe, Harbuz, Radu, Plotton, Ingrid, Coutton, Charles, Belaud‐Rotureau, Marc‐Antoine, Schluth‐Bolard, Caroline, Vialard, François

Volltext

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature von Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien

Volltext

Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive von Renault, Lucie, Labrune, Elsa, Giscard d'Estaing, Sandrine, Cuzin, Beatrice, Lapoirie, Marion, Benchaib, Mehdi, Lornage, Jacqueline, Soignon, Gaëlle, de Souza, André, Dijoud, Frédérique, Fraison, Eloïse, Pral-Chatillon, Laurence, Bordes, Agnès, Sanlaville, Damien, Schluth-Bolard, Caroline, Salle, Bruno, Ecochard, René, Lejeune, Hervé, Plotton, Ingrid

Volltext

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion von Pons, Linda, Cordier, Marie Pierre, Labalme, Audrey, Till, Marianne, Louvrier, Camille, Schluth-Bolard, Caroline, Lesca, Gaetan, Edery, Patrick, Sanlaville, Damien

Volltext

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway von Diala, Irmina, Wagner, Nicole, Magdinier, Frédérique, Shkreli, Marina, Sirakov, Maria, Bauwens, Serge, Schluth-Bolard, Caroline, Simonet, Thomas, Renault, Valérie M, Ye, Jing, Djerbi, Abdelnnadir, Pineau, Pascal, Choi, Jinkuk, Artandi, Steven, Dejean, Anne, Plateroti, Michelina, Gilson, Eric

Volltext

Distal Xq duplication and functional Xq disomy von Sanlaville, Damien, Schluth-Bolard, Caroline, Turleau, Catherine

Volltext

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster von Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

Volltext

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization von Arnoult, Nausica, Schluth-Bolard, Caroline, Letessier, Anne, Drascovic, Irena, Bouarich-Bourimi, Rachida, Campisi, Judith, Kim, Sahn-Ho, Boussouar, Amina, Ottaviani, Alexandre, Magdinier, Frédérique, Gilson, Eric, Londoño-Vallejo, Arturo

Volltext

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder von Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

Volltext