Blar i Bergen Open Research Archive på forfatter "Perthus, Isabelle"
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Amniotic band syndrome and limb body wall complex in Europe 1980–2019
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; de Walle, Hermien E. K. (Journal article; Peer reviewed, 2022)Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe ... -
Epidemiology of Dandy-Walker malformation in Europe: A EUROCAT population-based registry study
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 (Peer reviewed; Journal article, 2019)Background: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. Objective: The aim of this study was to ... -
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study
Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Pierini, Anna; Addor, Marie-Claude; Baldacci, Silvia; Ballardini, Elisa; Boban, Ljubica; Braz, Paula; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Materna-Kiryluk, Anna; Lanzoni, Monica; Lelong, Nathalie; Luyt, Karen; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; O'Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Nataliia; Garne, Ester (Journal article; Peer reviewed, 2021)Background Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. Objective The aim of this study was to investigate the epidemiology of PRS ... -
Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register-based study
Mamasoula, Chrysovalanto; Bigirumurame, Theophile; Chadwick, Thomas; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos M.; Echevarría-González-de-Garibay, Luis-Javier; Gatt, Miriam; Khoshnood, Babak; Klungsøyr, Kari; Randall, Kay; Stoianova, Sylvia; Haeusler, Martin; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle (Journal article; Peer reviewed, 2023)Background Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated ... -
Maternal risk factors for the VACTERL association: A EUROCAT case-control study
van de Putte, Romy; van Rooij, Iris A.L.M.; Haanappel, Cynthia P.; Marcelis, Carlo L.M.; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos Matias; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Khoshnood, Babak; Kinsner-Ovaskainen, Agnieszka; Klungsøyr, 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; de Walle, Hermien E.K.; Bergman, Jorieke E. H.; Roeleveld, Nel (Journal article; Peer reviewed, 2020)Background The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for ... -
Prevalence of congenital heart defects in Europe, 2008–2015: A registry-based study
Mamasoula, Chrysovalanto; Addor, Marie-Claude; Carbonell, Clara Cavero; Dias, Carlos M.; Echevarría-González-de-Garibay, Luis-Javier; Gatt, Miriam; Khoshnood, Babak; Klungsøyr, Kari; Randall, Kay; Stoianova, Sylvia; Haeusler, Martin; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle; Pierini, Anna; Bertaut-Nativel, Bénédicte; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Natalya; Barisic, Ingeborg; de Walle, Hermien E.K.; Lanzoni, Monica; Mullaney, Carmel; Pennington, Lindsay; Rankin, Judith (Journal article; Peer reviewed, 2022)Background The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the ... -
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries
Morris, Joan K.; Wellesley, Diana; Limb, Elizabeth; Bergman, Jorieke E. H.; Kinsner-Ovaskainen, Agnieszka; Addor, Marie Claude; Brougham, Jennifer M.; Cavero-Carbonell, Clara; Dias, Carlos M.; Echevarría-González-de-Garibay, Luis-Javier; Gatt, Miriam; Haeusler, Martin; Barisic, Ingeborg; Klungsøyr, Kari; Lelong, Nathalie; Materna-Kiryluk, Anna; Neville, Amanda; Nelen, Vera; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Stevens, Sarah; Tucker, David; Garne, Ester (Journal article; Peer reviewed, 2022)Background Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption ... -
Prevention of Neural Tube Defects in Europe: A Public Health Failure
Morris, Joan K.; Addor, Marie-Claude; Ballardini, Elisa; Barisic, Ingeborg; Barrachina-Bonet, Laia; Braz, Paula; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Lelong, Nathalie; Kinsner-Ovaskainen, Agnieszka; Kiuru-Kuhlefelt, Sonja; Klungsøyr, Kari; Latos-Bielenska, Anna; Limb, Elisabeth; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Gerardine; Sipek, Antonin; Stevens, Sarah; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien E.K.; Wellesley, Diana; Wertelecki, Wladimir; Bermejo-Sanchez, Eva (Journal article; Peer reviewed, 2021)Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending ... -
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
van de Putte, Romy; van Rooij, Iris A.L.M.; Marcelis, Carlo L.M.; Guo, Michel; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos Matias; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Haeusler, Martin C.H.; Khoshnood, Babak; Klungsøyr, Kari; Kurinczuk, Jenny J.; Lanzoni, Monica; 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; Barišić, Ingeborg; de Walle, Hermien E.K.; Roeleveld, Nel; Bergman, Jorieke E.H. (Peer reviewed; Journal article, 2020)Background: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these ... -
Surveillance of multiple congenital anomalies; searching for new associations
Morris, Joan K.; Bergman, Jorieke E. H.; Barisic, Ingeborg; Wellesley, Diana; Tucker, David; Limb, Elizabeth; Addor, Marie-Claude; Cavero-Carbonell, Clara; Matias Dias, Carlos; Draper, Elisabeth S.; Echevarría-González-de-Garibay, Luis Javier; Gatt, Miriam; Klungsøyr, Kari; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Nelen, Vera; Neville, Amanda; Perthus, Isabelle; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Wertelecki, Wladimir; Kinsner-Ovaskainen, Agnieszka; Garne, Ester (Journal article; Peer reviewed, 2023)Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve ...