Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy von Mariot, Virginie, Roche, Stephane, Hourdé, Christophe, Portilho, Debora, Sacconi, Sabrina, Puppo, Francesca, Duguez, Stephanie, Rameau, Philippe, Caruso, Nathalie, Delezoide, Anne-Lise, Desnuelle, Claude, Bessières, Bettina, Collardeau, Sophie, Feasson, Leonard, Maisonobe, Thierry, Magdinier, Frederique, Helmbacher, Françoise, Butler-Browne, Gillian, Mouly, Vincent, Dumonceaux, Julie

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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III von Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus von Cipriani, Sara, Nardelli, Jeannette, Verney, Catherine, Delezoide, Anne-Lise, Guimiot, Fabien, Gressens, Pierre, Adle-Biassette, Homa

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Entry and Distribution of Microglial Cells in Human Embryonic and Fetal Cerebral Cortex von Monier, Anne, Adle-Biassette, Homa, Delezoide, Anne-Lise, Evrard, Philippe, Gressens, Pierre, Verney, Catherine

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Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses von Létard, Pascaline, Guimiot, Fabien, Dupont, Céline, Rosenblatt, Jonathan, Delezoide, Anne‐Lise, Khung‐Savatovsky, Suonavy

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Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis von Bornes, Marie, Spaggiari, Emmanuel, Schmitz, Thomas, Dreux, Sophie, Czerkiewicz, Isabelle, Delezoide, Anne-Lise, El-Ghoneimi, Alaa, Oury, Jean-François, Muller, Françoise

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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations von Fusaro, Mathieu, Vincent, Aline, Castelle, Martin, Rosain, Jérémie, Fournier, Benjamin, Veiga-da-Cunha, Maria, Kentache, Takfarinas, Serre, Jill, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Renesme, Laurent, Picard, Fanny Morice, Lasseaux, Eulalie, Aladjidi, Nathalie, Seta, Nathalie, Cormier-Daire, Valérie, Schaftingen, Emile van, Neven, Bénédicte, Moshous, Despina, Blesson, Sophie, Picard, Capucine

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions von Teixeira, Luis, Guimiot, Fabien, Dodé, Catherine, Fallet-Bianco, Catherine, Millar, Robert P, Delezoide, Anne-Lise, Hardelin, Jean-Pierre

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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry von Beaussant Cohen, Sarah, Fenneteau, Odile, Plouvier, Emmanuel, Rohrlich, Pierre-Simon, Daltroff, Gerard, Plantier, Isabelle, Dupuy, Alain, Kerob, Delphine, Beaupain, Blandine, Bordigoni, Pierre, Fouyssac, Fanny, Delezoide, Anne-Lise, Devouassoux, Gilles, Nicolas, Jean François, Bensaid, Philippe, Bertrand, Yves, Balabanian, Karl, Chantelot, Christine Bellanne, Bachelerie, Françoise, Donadieu, Jean

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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families von Baujat, Geneviève, Huber, Céline, El Hokayem, Joyce, Caumes, Roseline, Do Ngoc Thanh, Claire, David, Albert, Delezoide, Anne-Lise, Dieux-Coeslier, Anne, Estournet, Brigitte, Francannet, Christine, Kayirangwa, Honorine, Lacaille, Florence, Le Bourgeois, Muriel, Martinovic, Jelena, Salomon, Rémi, Sigaudy, Sabine, Malan, Valérie, Munnich, Arnold, Le Merrer, Martine, Le Quan Sang, Kim Hanh, Cormier-Daire, Valérie

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Fetal phenotype associated with the 22q11 deletion von Noël, Anne-Claire, Pelluard, Fanny, Delezoide, Anne-Lise, Devisme, Louise, Loeuillet, Laurence, Leroy, Brigitte, Martin, Alain, Bouvier, Raymonde, Laquerriere, Annie, Jeanne-Pasquier, Corinne, Bessieres-Grattagliano, Betty, Mechler, Charlotte, Alanio, Elisabeth, Leroy, Camille, Gaillard, Dominique

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Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature von Mary, Laura, Scheidecker, Sophie, Kohler, Monique, Lombardi, Maria‐Paola, Delezoide, Anne‐Lise, Auberger, Elisabeth, Triau, Stéphane, Colin, Estelle, Gerard, Marion, Grzeschik, Karl‐Heinz, Dollfus, Hélène, Antal, Maria Cristina

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Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases von Duval, Hélène, Michel-Calemard, Laurence, Gonzales, Marie, Loget, Philippe, Beneteau, Claire, Buenerd, Annie, Joubert, Madeleine, Denis-Musquer, Marielee, Clemenson, Alix, Chesnais, Anne-Laure, Blesson, Sophie, De Pinieux, Isabelle, Delezoide, Anne-Lise, Bonyhay, Gheorghe, Bellanné-Chantelot, Christine, Heidet, Laurence, Dupré, Florence, Collardeau-Frachon, Sophie

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Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia von Chassaing, Nicolas, Golzio, Christelle, Odent, Sylvie, Lequeux, Léopoldine, Vigouroux, Adeline, Martinovic-Bouriel, Jelena, Tiziano, Francesco Danilo, Masini, Lucia, Piro, Francesca, Maragliano, Giovanna, Delezoide, Anne-Lise, Attié-Bitach, Tania, Manouvrier-Hanu, Sylvie, Etchevers, Heather C, Calvas, Patrick

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CD117hi expression identifies a human fetal hematopoietic stem cell population with high proliferation and self-renewal potential von Maillard, Loïc, Sanfilippo, Sandra, Domenech, Carine, Kasmi, Nassima, Petit, Laurence, Jacques, Sébastien, Delezoide, Anne-Lise, Guimiot, Fabien, Eladak, Soria, Moison, Delphine, Nicolas, Nour, Rouiller-Fabre, Virginie, Pozzi-Godin, Stéphanie, Mennesson, Benoit, Brival, Marie-Laure, Letourneur, Franck, Jaffredo, Thierry, Chomienne, Christine, Souyri, Michèle

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A dramatic fetal outcome following transplacental transfer of dasatinib von Berveiller, Paul, Andreoli, Annalisa, Mir, Olivier, Anselem, Olivia, Delezoide, Anne-Lise, Sauvageon, Hélène, Chapuis, Nicolas, Tsatsaris, Vassilis

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 von El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation von Mougou-Zerelli, Soumaya, Thomas, Sophie, Szenker, Emmanuelle, Audollent, Sophie, Elkhartoufi, Nadia, Babarit, Candice, Romano, Stéphane, Salomon, Rémi, Amiel, Jeanne, Esculpavit, Chantal, Gonzales, Marie, Escudier, Estelle, Leheup, Bruno, Loget, Philippe, Odent, Sylvie, Roume, Joëlle, Gérard, Marion, Delezoide, Anne-Lise, Khung, Suonavy, Patrier, Sophie, Cordier, Marie-Pierre, Bouvier, Raymonde, Martinovic, Jéléna, Gubler, Marie-Claire, Boddaert, Nathalie, Munnich, Arnold, Encha-Razavi, Férechté, Valente, Enza Maria, Saad, Ali, Saunier, Sophie, Vekemans, Michel, Attié-Bitach, Tania

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Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation von Quelin, Chloe, Spaggiari, Emmanuel, Khung-Savatovsky, Suonavy, Dupont, Celine, Pasquier, Laurent, Loeuillet, Laurence, Jaillard, Sylvie, Lucas, Josette, Marcorelles, Pascale, Journel, Hubert, Pluquailec-Bilavarn, Khantaby, Bazin, Anne, Verloes, Alain, Delezoide, Anne-Lise, Aboura, Azzedine, Guimiot, Fabien

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Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers von Spaggiari, Emmanuel, Heidet, Laurence, Grange, Gilles, Guimiot, Fabien, Dreux, Sophie, Delezoide, Anne-Lise, Muller, Françoise

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