Distal Xq duplication and functional Xq disomy

por Sanlaville, Damien, Schluth-Bolard, Caroline, Turleau, Catherine
Publicado 2009

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

por Demily, Caroline, Rossi, Massimiliano, Chesnoy-Servanin, Gabrielle, Martin, Brice, Poisson, Alice, Sanlaville, Damien, Edery, Patrick
Publicado 2014

Sex gap in aging and longevity: can sex chromosomes play a role?

por Marais, Gabriel A.B., Gaillard, Jean-Michel, Vieira, Cristina, Plotton, Ingrid, Sanlaville, Damien, Gueyffier, François, Lemaitre, Jean-Francois
Publicado 2018

Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s ph...

por Touhami, Rahma, Foddha, Hajer, Alix, Eudeline, Jalloul, Afef, Mougou-Zerelli, Soumaya, Saad, Ali, Sanlaville, Damien, Haj Khelil, Amel
Publicado 2023

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

por Demily, Caroline, Poisson, Alice, Peyroux, Elodie, Gatellier, Valérie, Nicolas, Alain, Rigard, Caroline, Schluth-Bolard, Caroline, Sanlaville, Damien, Rossi, Massimiliano
Publicado 2017

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

por Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan
Publicado 2020

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

por GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, DEMILY, Caroline
Publicado 2021

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

por Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Portes, Vincent Des, Edery, Patrick, Demily, Caroline
Publicado 2015

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

por Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F.
Publicado 2013

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

por Komlosi, Katalin, Claris, Olivier, Collardeau-Frachon, Sophie, Kopp, Julia, Hausser, Ingrid, Mazereeuw-Hautier, Juliette, Jonca, Nathalie, Zimmer, Andreas D., Sanlaville, Damien, Fischer, Judith
Publicado 2021

Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

por Tessereau, Chloé, Buisson, Monique, Monnet, Nastasia, Imbert, Marine, Barjhoux, Laure, Schluth-Bolard, Caroline, Sanlaville, Damien, Conseiller, Emmanuel, Ceppi, Maurizio, Sinilnikova, Olga M., Mazoyer, Sylvie
Publicado 2013

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

por Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
Publicado 2018

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

por Slimani, Wafa, Ben Khelifa, Hela, Dimassi, Sarra, Chioukh, Fatma-Zohra, Jelloul, Afef, Kammoun, Molka, Hannachi, Hanene, Bouslah, Sarra, Jammali, Nesrine, Sanlaville, Damien, Saad, Ali, Mougou-Zerelli, Soumaya
Publicado 2019

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

por Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Publicado 2019

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

por 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
Publicado 2019

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

por Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre
Publicado 2010

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

por Lasolle, Hélène, Elsensohn, Mad-Hélénie, Wierinckx, Anne, Alix, Eudeline, Bonnefille, Clément, Vasiljevic, Alexandre, Cortet, Christine, Decoudier, Bénédicte, Sturm, Nathalie, Gaillard, Stephan, Ferrière, Amandine, Roy, Pascal, Jouanneau, Emmanuel, Bertolino, Philippe, Bardel, Claire, Sanlaville, Damien, Raverot, Gérald
Publicado 2020

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

por 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
Publicado 2019

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

por Bouras, Ahmed, Guidara, Souhir, Leone, Mélanie, Buisson, Adrien, Martin-Denavit, Tanguy, Dussart, Sophie, Lasset, Christine, Giraud, Sophie, Bonnet-Dupeyron, Marie-Noëlle, Kherraf, Zine-Eddine, Sanlaville, Damien, Fert-Ferrer, Sandra, Lebrun, Marine, Bonadona, Valerie, Calender, Alain, Boutry-Kryza, Nadia
Publicado 2023

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

por Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Publicado 2013