Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)

Authors: Alessandri, Jean-Luc, Celse, Tristan, Spodenkiewicz, Marta, Calaya, Anais, Dumont, Coralie, Jacquemont, Marie-Line, Bertaut-Nativel, Bénédicte, Boumahni, Brahim, Rémy, Mathilde, Ferroul, Fanny, Guilly, Suzie, Huby, Thomas, Irabé, Mireille, Laurens, Tiffany, Munier, Patrick, Morel, Godelieve, Payet, Frédérique, Randrianaivo, Hanitra, Doray, Bérénice, Dospeux, Jessica

Source: In European Journal of Medical Genetics June 2024 69

Epidemiology of aplasia cutis congenita: A population‐based study in Europe

Authors: Coi, Alessio, Barisic, Ingeborg, Garne, Ester, Pierini, Anna, Addor, Marie‐Claude, Aizpurua Atxega, Amaia, Ballardini, Elisa, Braz, Paula, Broughan, Jennifer M., Cavero‐Carbonell, Clara, Walle, Hermien E. K., Draper, Elizabeth S., Gatt, Miriam, Häusler, Martin, Kinsner‐Ovaskainen, Agnieszka, Kurinczuk, Jennifer J., Lelong, Nathalie, Luyt, Karen, Mezzasalma, Lorena, Mullaney, Carmel, Nelen, Vera, Odak, Ljubica, O'Mahony, Mary T., Perthus, Isabelle, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiśniewska, Katarzyna, Yevtushok, Lyubov, Santoro, Michele

Source: Journal of the European Academy of Dermatology and Venereology. 37(3):581-589

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182201381.0x000001&indx=1&recIds=ETOCvdc_100182201381.0x000001

Amniotic band syndrome and limb body wall complex in Europe 1980–2019

Authors: Bergman, Jorieke E. H., Barišić, Ingeborg, Addor, Marie‐Claude, Braz, Paula, Cavero‐Carbonell, Clara, Draper, Elizabeth S., Echevarría‐González‐de‐Garibay, Luis J., Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr, Kari, Kurinczuk, Jennifer J., Latos‐Bielenska, Anna, Luyt, Karen, Martin, Danielle, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O'Mahony, Mary T., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Gerardine, Schaub, Bruno, Stevens, Sarah, Tucker, David, Verellen‐Dumoulin, Christine, Wiesel, Awi, Gerkes, Erica H., Perraud, Annie, Loane, Maria A., Wellesley, Diana, Walle, Hermien E. K.

Source: American journal of medical genetics.Part A. 191(4):995-1006

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177622719.0x000001&indx=1&recIds=ETOCvdc_100177622719.0x000001

Oncogénétique dans les départements et régions d’Outre-mer français : situation à La Réunion

Alternate Title: Oncogenetics in the French overseas departments and regions: Situation in Reunion Island (English)

Authors: Irabe, Mireille ^*, Boukerrou, Malik, Randrianaivo, Hanitra, Laurens, Tiphany, Beuvain, Pauline, Benard, Stéphanie, Tran, Phuong Lien, Roy-Doray, Bérénice, Khettab, Mohamed

Source: In Bulletin du Cancer June 2023 110(6):685-691

Maternal risk factors for the VACTERL association: A EUROCAT case–control study

Authors: Putte, Romy, Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak‐Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, Walle, Hermien E.K., Bergman, Jorieke E.H., Roeleveld, Nel

Source: Birth defects research. 112(9):688-698

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121113620.0x000001&indx=1&recIds=ETOCvdc_100121113620.0x000001

High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3

Authors: Gouronc, Aurélie, Zilliox, Vincent, Jacquemont, Marie‐Line, Darcel, Françoise, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Antin, Manuela, Alessandri, Jean‐Luc, Doray, Bérénice, Gueguen, Paul, Payet, Frédérique, Randrianaivo, Hanitra, Stoetzel, Corinne, Scheidecker, Sophie, Flodrops, Hugues, Dollfus, Hélène, Muller, Jean

Source: Clinical genetics. 98(2):166-171

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107433093.0x000001&indx=1&recIds=ETOCvdc_100107433093.0x000001

Discordant malformations in monochorionic twins: a retrospective cohort study in La Reunion Island

Authors: Homatter, Céline, Robillard, Pierre-Yves, Omarjee, Asma, Schweizer, Chloé, Boukerrou, Malik, Cuillier, Fabrice, Doray, Bérénice, Randrianaivo, Hanitra, Bertaut-Nativel, Bénédicte, Dumont, Coralie

Source: Journal of maternal-fetal & neonatal medicine. 33(24):4069-4075

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100113466280.0x000001&indx=1&recIds=ETOCvdc_100113466280.0x000001

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

Authors: Boudet-Berquier, Julie, Demattei, Christophe, Guldner, Laurence, Gallay, Anne, Manouvrier, Sylvie, Botton, Jérémie, Philippat, Claire, Delva, Fleur, Bloch, Juliette, Semaille, Caroline, Odent, Sylvie, Perthus, Isabelle, Randrianaivo, Hanitra, Babajko, Sylvie, Barjat, Tiphaine, Beneteau, Claire, Brennetot, Naima, Garne, Ester, Haddad, Georges, Hocine, Mounia

Source: European Journal of Epidemiology; Jul2024, Vol. 39 Issue 7, p753-771, 19p

Subject Terms: LIMB reduction defects, HUMAN abnormalities, ENVIRONMENTAL databases, CONGENITAL disorders, PLANT products

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Authors: Garne, Ester, Rissmann, Anke, Addor, Marie-Claude, Barisic, Ingeborg, Bergman, Jorieke, Braz, Paula, Cavero-Carbonell, Clara, Draper, Elizabeth S., Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Kurinczuk, Jennifer J., Lelong, Nathalie, Luyt, Karen, Lynch, Catherine, O'Mahony, Mary T., Mokoroa, Olatz, Nelen, Vera, Neville, Amanda J., Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rouget, Florence, Schaub, Bruno, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Nataliia, Lanzoni, Monica, Morris, Joan K.

Source: In European Journal of Medical Genetics September 2018 61(9):483-488

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

Authors: Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, Morris, Joan K.

Source: In European Journal of Medical Genetics September 2018 61(9):499-507

Pregnancy outcomes of Q fever: prospective follow-up study on Reunion island

Authors: Mboussou, Yoan, Jaubert, Julien, Larrieu, Sophie, Atiana, Laura, Naze, Florence, Folio, Christine, Randrianaivo, Hanitra, Bertolotti, Antoine, Picot, Sandrine, Robillard, Pierre-Yves, Boukerrou, Malik, Gérardin, Patrick

Source: BMC infectious diseases. 19(1):1-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190640567.0x000001&indx=1&recIds=ETOCvdc_100190640567.0x000001

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Authors: Santoro, Michele, Coi, Alessio, Barišić, Ingeborg, Garne, Ester, Addor, Marie-Claude, Bergman, Jorieke E.H., Bianchi, Fabrizio, Boban, Ljubica, Braz, Paula, Cavero-Carbonell, Clara, Gatt, Miriam, Haeusler, Martin, Kinsner-Ovaskainen, Agnieszka, Klungsøyr, Kari, Kurinczuk, Jennifer J., Lelong, Nathalie, Luyt, Karen, Materna-Kiryluk, Anna, Mokoroa, Olatz, Mullaney, Carmel, Nelen, Vera, Neville, Amanda Julie, O'Mahony, Mary T., Perthus, Isabelle, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Yevtushok, Lyubov, Pierini, Anna

Source: Neuroepidemiology. 53(3/4):169-179

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093395303.0x000001&indx=1&recIds=ETOCvdc_100093395303.0x000001

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Authors: Alessandri, Jean-Luc, Gordon, Christopher, Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, Gérard, Marion, Kuentz, Paul, Jouan, Thibaud, Filippini, Francesca, Nguyen, Thi, Alibeu, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Omarjee, Asma, Ramful, Duksha, Randrianaivo, Hanitra, Doray, Bérénice, Faivre, Laurence, Amiel, Jeanne, Campeau, Philippe, Thevenon, Julien

Source: European journal of human genetics. 26(3):340-349

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103851945.0x000001&indx=1&recIds=ETOCvdc_100103851945.0x000001

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Authors: Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne

Source: In Genetics in Medicine January 2016 18(1):49-56

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

Authors: Bergman, Jorieke E. H., Lutke, L. Renée, Gans, Rijk O. B., Addor, Marie-Claude, Barisic, Ingeborg, Cavero-Carbonell, Clara, Garne, Ester, Gatt, Miriam, Klungsoyr, Kari, Lelong, Nathalie, Lynch, Catherine, Mokoroa, Olatz, Nelen, Vera, Neville, Amanda J., Pierini, Anna, Randrianaivo, Hanitra, Rissmann, Anke, Tucker, David, Wiesel, Awi, Dolk, Helen, Loane, Maria, Bakker, Marian K.

Source: Drug safety. 41(4):415-427

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130226248.0x000001&indx=1&recIds=ETOCvdc_100130226248.0x000001

Genetic testing in prolactinomas: a cohort study.

Authors: Boukerrouni, Amina, Cuny, Thomas, Anjou, Thibaut, Raingeard, Isabelle, Ferrière, Amandine, Grunenwald, Solange, Maïza, Jean-Christophe, Marquant, Emeline, Sahakian, Nicolas, Fodil-Cherif, Sarah, Salle, Laurence, Niccoli, Patricia, Randrianaivo, Hanitra, Sonnet, Emmanuel, Chevalier, Nicolas, Thuillier, Philippe, Vezzosi, Delphine, Reynaud, Rachel, Dufour, Henry, Brue, Thierry

Source: European Journal of Endocrinology; Dec2023, Vol. 189 Issue 6, p567-574, 8p

Subject Terms: PROLACTINOMA, GENETIC testing, COHORT analysis

Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

Authors: Khoshnood, Babak, Loane, Maria, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Bianca, Sebastiano, Boyd, Patricia, Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth, Gatt, Miriam, Haeusler, Martin, Melve, Kari Klungsoyr, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Salvador, Joaquin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Zymak-Zakutnya, Natalya, Dolk, Helen

Source: In The Journal of Pediatrics January 2013 162(1):108-113

Transmission materno-fœtale précoce du virus Chikungunya

Alternate Title: Early maternal-fetal transmission of the chikungunya virus (English)

Authors: Touret, Yasmina, Randrianaivo, Hanitra, Michault, Alain, Schuffenecker, Isabelle, Kauffmann, Edouard, Lenglet, Yann, Barau, Georges, Fourmaintraux, Alain ^⁎

Source: In La Presse Médicale November 2006 35(11) Part 1:1656-1658

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Authors: Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

Source: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 6 p559-567, 9p

Cost and outcomes of the ultrasound screening program for birth defects over time: a population-based study inFrance.

Authors: Ferrier, Clément, Khoshnood, Babak, Dhombres, Ferdinand, Randrianaivo, Hanitra, Perthus, Isabelle, Jouannic, Jean-Marie, Durand-Zaleski, Isabelle

Source: BMJ Open; Jul2020, Vol. 10 Issue 7, p1-7, 7p