Search Results - "Philippe Khau, Van Kien"

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

“…The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these…”
Get full text

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum by Celse, Tristan, Tingaud-Sequeira, Angèle, Dieterich, Klaus, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Soussi Zander, Cecilia, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Khau Van Kien, Philippe, Godin, Manon, Gruchy, Nicolas, Goel, Himanshu, Palmer, Elizabeth, Demetriou, Kalliope, Shalhoub, Carolyn, Rooryck, Caroline, Coutton, Charles

“…Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically…”
Get more information

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

“…Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic)…”
Get full text

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes by Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean

“…Bardet‐Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism…”
Get full text

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

“…Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although…”
Get full text

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus by Vranckx, Roger, Wolf, Jean-Eric, Brunotte, François, Michel, Jean-Baptiste, Wegman, Mark, Glancy, Luke, Van Kien, Philippe Khau, Zhu, Limin, Gasc, Jean-Marie, Bruneval, Patrick, Jeunemaitre, Xavier, Boisset, Nicolas, Mathieu, Flavie, Lalande, Alain

“…We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the…”
Get full text

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype by Beyens, Aude, Moreno‐Artero, Ester, Bodemer, Christine, Cox, Helen, Gezdirici, Alper, Yilmaz Gulec, Elif, Kahloul, Najoua, Khau Van Kien, Philippe, Ogur, Gonul, Harroche, Annie, Vasse, Marc, Salhi, Aïcha, Symoens, Sofie, Hadj‐Rabia, Smail, Callewaert, Bert

“…In ATP6V0A2‐related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological…”
Get full text

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

“…Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing…”
Get full text

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations by Garde, Aurore, Cornaton, Jenny, Sorlin, Arthur, Moutton, Sébastien, Nicolas, Claire, Juif, Christine, Geneviève, David, Perrin, Laurence, Khau‐Van‐Kien, Philippe, Smol, Thomas, Vincent‐Delorme, Catherine, Isidor, Bertrand, Cogné, Benjamin, Afenjar, Alexandra, Keren, Boris, Coubes, Christine, Prieur, Fabienne, Toutain, Annick, Trousselet, Yann, Bourgouin, Solène, Gonin‐Olympiade, Coralie, Giraudat, Kim, Piton, Amélie, Gérard, Bénédicte, Odent, Sylvie, Tessier, Fanny, Lemasson, Lola, Heide, Solveig, Gelineau, Anne‐Claire, Sarret, Catherine, Miret, Anne, Schaefer, Elise, Piard, Juliette, Mathevet, Rémi, Boucon, Marion, Bruel, Ange‐Line, Mau‐Them, Frederic Tran, Chevarin, Martin, Vitobello, Antonio, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence

“…White‐Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral…”
Get full text

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis by Guissart, Claire, Tran Mau Them, Frédéric, Debant, Vanessa, Viart, Victoria, Dubucs, Charlotte, Pritchard, Victoria, Rouzier, Cécile, Boureau-Wirth, Amandine, Haquet, Emmanuelle, Puechberty, Jacques, Bieth, Eric, Khau Van Kien, Philippe, Brechard, Marie-Pierre, Raynal, Caroline, Girardet, Anne, Claustres, Mireille, Koenig, Michel, Vincent, Marie-Claire

“…Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set…”
Get more information

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome by Renard, Dimitri, Taieb, Guillaume, Garibaldi, Matteo, Maues De Paula, Andre, Bernard, Rafaelle, Lagha, Nadira, Cristofari, Gael, Vovan, Catherine, Chaix, Charlène, Lévy, Nicolas, Khau Van Kien, Philippe, Sacconi, Sabrina

“…Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene…”
Get full text

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

“…Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious…”
Get full text

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? by Khelifi, Mouna Messaoud, Ishmukhametova, Aliya, Van Kien, Philippe Khau, Thorel, Delphine, Méchin, Déborah, Perelman, Serge, Pouget, Jean, Claustres, Mireille, Tuffery-Giraud, Sylvie

“…We report on two unprecedented cases of pseudoexon (PE) activation in the DMD gene resulting from pure intronic double‐deletion events that possibly involve…”
Get full text

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

Get full text

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome by Ong, Kim-Thanh, Plauchu, Henri, Peyrol, Simone, Roux, Elisabeth, Errazuriz, Elisabeth, Van Kien, Philippe Khau, Arbeille, Brigitte, Gaulier, Alain, Georgescou, Gabriela, Collignon, Patrick, Germain, Dominique P., Gaveau, Marie-Noëlle, Perdu, Jérôme, Laurent, Stéphane, Bruneval, Patrick, Boutouyrie, Pierre

“…Vascular Ehlers–Danlos syndrome (vEDS) results from a mutation in the gene encoding alpha-1, type III pro-collagen ( COL3A1 ) and confers fragility to skin,…”
Get full text

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

“…Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected…”
Get full text

Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene by Schultz, Céline, Chiesa, Jean, Philippe Khau, Van Kien, Marie-Pierre, Audrézet, Moranne, Olivier

Get full text

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study by Edouard, Thomas, Picot, Marie-Christine, Bajanca, Fernanda, Huguet, Helena, Guitarte, Aitor, Langeois, Maud, Chesneau, Bertrand, Van Kien, Philippe Khau, Garrigue, Eric, Dulac, Yves, Amedro, Pascal

“…This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan…”
Get full text

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders by Attias, David, Stheneur, Chantal, Roy, Carine, Collod-Béroud, Gwenaëlle, Detaint, Delphine, Faivre, Laurence, Delrue, Marie-Ange, Cohen, Laurence, Francannet, Christine, Béroud, Christophe, Claustres, Mireille, Iserin, Franck, Khau Van Kien, Philippe, Lacombe, Didier, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Plauchu, Henri, Rio, Marlène, Rossi, Annick, Sidi, Daniel, Steg, Philippe Gabriel, Ravaud, Philippe, Boileau, Catherine, Jondeau, Guillaume

“…TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear. Clinical…”
Get full text

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase by Tuffery-Giraud, Sylvie, Béroud, Christophe, Leturcq, France, Yaou, Rabah Ben, Hamroun, Dalil, Michel-Calemard, Laurence, Moizard, Marie-Pierre, Bernard, Rafaëlle, Cossée, Mireille, Boisseau, Pierre, Blayau, Martine, Creveaux, Isabelle, Guiochon-Mantel, Anne, de Martinville, Bérengère, Philippe, Christophe, Monnier, Nicole, Bieth, Eric, Van Kien, Philippe Khau, Desmet, François-Olivier, Humbertclaude, Véronique, Kaplan, Jean-Claude, Chelly, Jamel, Claustres, Mireille

“…UMD-DMD France is a knowledgebase developed through a multicenter academic effort to provide an up-to-date resource of curated information covering all…”
Get full text