European Platform on Rare Disease Registration

Publications (870)

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010

Yu X, Nassar N, Mastroiacovo P, Canfield M, Groisman B, Bermejo-Sánchez E, Ritvanen A, Kiuru-Kuhlefelt S, Benavides A, Sipek A, Pierini A, Bianchi F, Källén K, Gatt M, Morgan M, Tucker D, Canessa MA, Gajardo R, Mutchinick OM, Szabova E, Csáky-Szunyogh M, Tagliabue G, Cragan JD, Nembhard WN, Rissmann A, Goetz D, Bower C, Baynam G, Lowry RB, Leon JA, Luo W, Rouleau J, Zarante I, Fernandez N, Amar E, Dastgiri S, Contiero P, Martínez-de-Villarreal LE, Borman B, Bergman JEH, de Walle HEK, Hobbs CA, Nance AE, Agopian AJ
Eur Urol. , 2019 , Oct;76: (4) 482 - 490
Subjects: Hypospadias; International Clearinghouse for Birth Defects Surveillance and Research; Joinpoint regression; Prevalence; Trend
Anomalies: hypospadias

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD
BMJ Open, 2019 , Jul 2;9(7):e028139:
Subjects: critical congenital heart defects; epidemiology; prenatal diagnosis
Anomalies: congenital heart defects

Prescription of antiepileptic medicines including valproate in pregnant women: A study in three European countries.

Caroline Hurault‐Delarue, Joan K. Morris, Rachel Charlton, Rosa Gini, Maria Loane, Anna Pierini, Aurora Puccini, Amanda Neville, Julia Snowball, Christine Damase‐Michel on behalf of the EUROmediSAFE consortium
Pharmacoepidemiology and Drug Safety, 2019 , 28: 1510 - 1518

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A, 2019 , Dec;179: (12) 2382 - 2392
Subjects: Edwards syndrome; Patau syndrome; congenital anomaly register; trisomies; trisomy 13; trisomy 18
Anomalies: congenital anomalies

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

Barisic I, Boban L, Akhmedzhanova D, Bergman JEH, Cavero-Carbonell C, Grinfelde I, Materna-Kiryluk A, Latos-Bielenska A, Randrianaivo H, Zymak-Zakutnya N, Sansovic I, Lanzoni M, Morris JK
Eur J Med Genet., 2018 , Sep;61(9): 499 - 507
Subjects: somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors
Anomalies: Beckwith Wiedemann syndrome; Congenital anomalies; Epidemiology; Europe; Prenatal diagnosis

Beta-blocker use in pregnancy and risk of specific congenital anomalies: a European case-malformed control study

Bergman JEH, Lutke LR, Gans ROB, Addor MC, Barisic I, Cavero-Carbonell C, Garne E, Gatt M, Klungsoyr K, Lelong N, Lynch C, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Wiesel A, Dolk H, Loane M, Bakker MK
Drug Saf. , 2018 , 41: (4) 415 - 427
Subjects: chronic hypertension , beta-blockers, pregnancy
Anomalies: congenital anomalies

Effectiveness of 12-13-week scan for early diagnosis of fetal congenital anomalies in the cell-free DNA era

Kenkhuis MJA, Bakker M, Bardi F, Fontanella F, Bakker MK, Fleurke-Rozema JH, Bilardo
Ultrasound Obstet Gynecol. , 2018 , 51: (4) 463 - 469
Subjects: fetal congenital anomalies, cell-free DNA
Anomalies: congenital anomalies

Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence

Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiologia e Prevenzione, 2018 , 42: (3-4 Suppl 1) 1 - 34
Subjects: prevention; non-genetic risk factors
Anomalies: major subgroups of congenital anomalies

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

Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK
Eur J Med Genet., 2018 , 61: (9) 483 - 488
Subjects: associated anomalies, eurocat, maternal age, population based, prevalence, septo-optic dysplasia
Anomalies: septo-optic nerve dysplasia, congenital anomalies

Estimating global burden of disease due to congenital anomaly: an analysis of European data

Boyle B, Addor MC, Arriola L, Barisic I, Bianchi F, Csáky-Szunyogh M, de Walle HEK, Dias CM, Draper E, Gatt M, Garne E, Haeusler M, Källén K, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Wahrendorf A, Randrianaivo H, Rankin J, Rissmann A, Ritvanen A, Rounding C, Tucker D, Verellen-Dumoulin C, Wellesley D, Wreyford B, Zymak-Zakutnia N, Dolk H
Arch Dis Child Fetal Neonatal, 2018 , 103(1): F22 - F28
Subjects: Congenital anomaly; DALY; Global Burden of Disease; YLL; mortality
Anomalies: congenital anomaly