Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria

by Brahami, Nabila, Aribi, Mourad, Sari, Badr-Eddine, Khau Van Kien, Philippe, Touitou, Isabelle, Lefranc, Gérard, Barat-Houari, Mouna
Published 2013

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

by 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
Published in Eur J Hum Genet (2021)

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

by 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
Published in Mol Genet Genomic Med (2020)

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

by Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile
Published 2014

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

by Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile
Published 2014

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

by Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle
Published in EMBO J (2020)

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

by Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, Guissart, Claire
Published in Sci Rep (2020)

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

by De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile
Published in Am J Hum Genet (2017)