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Bibliografia PRWWR

Prace oryginalne, w których członkowie Zespołu PRWWR zostali wymienieni w EUROCAT Working Group

  1. Loane M, Dolk H, Garne E, Greenlees R. EUROCAT Working Group. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies. Birth Defects Res A Clin Mol Teratol. 2011, 91(Suppl 1):23–30.

  2. Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H. EUROCAT Working Group. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet. 2011, 19(2):231–4. 
    Wskaźnik Impact Factor: 4.47

  3. Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E, Densem J. EUROCAT Working Group. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classifi cation of cases. Birth Defects Res A Clin Mol Teratol. 2011, 91(Suppl 1):44–50.

  4. Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J. EUROCAT Working Group. Paper 4: EUROCAT statistical monitoring: identifi cation and investigation of ten year trends of congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol. 2011, 91(Suppl 1):31–43.

  5. Khoshnood B, Greenlees R, Loane M, Dolk H. EUROCAT Project Management Committee, EUROCAT Working Group. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol. 2011, 91(Suppl 1):16–22.

  6. Dolk H, Loane M, Garne E. European Surveillance of Congenital Anomalies (EUROCAT) Working Group. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation. 2011, 123(8):841–9. 
    Wskaźnik Impact Factor: 14.739

  7. Jentink J, Dolk H, Loane MA, Morris JK, Wellesley D, Garne E, de Jong-van den Berg L. EUROCAT Working Group. Intrauterine exposure to carbamazepine and specifi c congenital malformations: systematic review and case-control study. BMJ. 2010, 2:341. 
    Wskaźnik Impact Factor: 0.15

  8. De Souza E, Morris JK. EUROCAT Working Group. Case-control analysis of paternal age and trisomic anomalies. Arch Dis Child. 2010, 95(11):893–7.

  9. Garne E, Loane M, Wellesley D, Barisic I. EUROCAT Working Group. Congenital hydronephrosis: Prenatal diagnosis and epidemiology in Europe. J Pediatr Urol. 2009, 5:47–52.

  10. Loane M, Dolk H, Morrisb JK. EUROCAT Working Group. Maternal age-specifi c risk of non-chromosomal BJOG. 2009, 116(8):1111–9. 
    Wskaźnik Impact Factor: 3.49

  11.  Dolk H, Jentink J, Loane M, Morris J, de Jong W, van den Berg LT. EUROCAT Working Group. Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? Neurology. 2008, 71:714–22. 
    Wskaźnik Impact Factor: 7.043

  12. Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H. EUROCAT Working Group. Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe. Am J Med Genet Part A. 2008, 146A:51–9. 
    Wskaźnik Impact Factor: 1.28

  13. Boyd PA, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, EUROCAT Working G 13. roup. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome. BJOG. 2008, 115(6):689–96. 
    Wskaźnik Impact Factor: 3.101

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Postęp w realizacji Planu dla Chorób Rzadkich

03 stycznia 2024

Prof. dr hab. n. med. Anna Latos-Bieleńska, konsultant krajowa w dziedzinie genetyki klinicznej, podsumowuje realizację Planu dla Chorób Rzadkich w 2023 roku.

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