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Bibliografia PRWWR

Doniesienia zjazdowe – międzynarodowe

  1. Anna Latos-Bieleńska; Anna Materna-Kiryluk, Katarzyna Wiśniewska, Anna Jamry-Dziurla, Karolina Matuszewska, Renata Glazar, Aleksander Jamsheer,  Dorota Wicher, Ryszard Slezak, Jacek  Pilch and other members of the PRCM Working Group; „Rare malformation syndromes in Polish Registry of Congenital Malformations in 2014-2017”; 14th Eurocat European Scientific Symposium on Congenital Anomalies, Future perspectives for congenital anomaly research, European Commission, DG Joint Research Centre, Ispra, Italy, 14-15.06.2018

  2. Latos-Bieleńska A, Jamsheer A, Materna-Kiryluk A, Wiśniewska K and PRCM Working Group. Classifi cation of limb defects and incidence of limb reduction defects. WHO Th alidomide Embryopathy Conference. Geneva, 24–25.02.2014.

  3. Jamsheer A, Sowińska A, Socha M, Latos-Bieleńska A. Copy number changes underlying syndromic and isolated bilateral radial ray aplasia: screening of a cohort of 20 probands. ESHG Paris, 8–11.06.2013. Eur J Hum Genet. 2013, 21(Suppl 2):64.

  4. Lohan S, Doelken SC, Stricker S, Ockeloen ChW, Soares T, de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S, Klopocki E. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. European Human Genetics Conference. Nurnberg, 23–26.06.2012. Eur J Hum Genet. 2012, 20 (Suppl 1):4–5.

  5. Jamsheer A, Sowińska A, Latos-Bieleńska A. Two novel GJA1 missense mutations in patients presenting with oculodentodigital dysplasia. European Human Genetics Conference. Nurnberg, 23–26.06.2012. Eur J Hum Genet. 2012, 20 (Suppl 1):90.

  6. Latos-Bieleńska A. Polish Registry of Congenital Malformations (PRCM) – its role in the health care system. Quality of data. Collaboration across the Europe. Th e Conference of the Polish Presidency of the EU Council E-health – safety, quality of medical information and the extensive usage of telemedicine technology for the EU citizens as a part of Digital Europe. Warszawa, 28–29.11.2011.

  7. Latos-Bieleńska A. Birth Defects in Central and Eastern Europe. 5th International Conference on Birth Defects & Disabilities in the Developing Word. Łódź, 24–27.10.2011.

  8. Materna-Kiryluk A, Sanna-Cherc S, Burgess K, Kiryluk K, Gharavi AG. A novel deletion at 3q13.31-22.1 causes dysmorphia and multiple congenital malformations. ESHG European Human Genetics Conference. Amsterdam, 28–31.05.2011, 109.

  9. Jamsheer A, Sowińska A, Geppert A, Latos-Bieleńska A. Deletions of the GLI3 gene can be the frequent cause of Greig cephalopolysyndactyly and preaxial polydactyly type IV. ESHG European Human Genetics Conference. Amsterdam, 28–31.05.2011, 94.

  10. Wiśniewska K, Materna-Kiryluk A, Mejnartowicz J, Latos-Bieleńska A and other members of the PRCM Working Group. Folic acid supplementation before and during pregnancy. 11 EUROCAT Symposium on Congenital Anomalies. Antwerp. 14–18.06.2011.

  11. Jamsheer A, Sowińska A, Latos-Bieleńska A. A panel of genetic tests identifi es causative mutation in around 40% of patients aff ected by bilateral syndromic and non-syndromic congenital limb malformations. International Congress of Human Genetics, 11–15.10.2011.

  12. Sanna-Cherchi S, Burgess K, Bodria M, Kiryluk K, Lozanovski V, Materna-Kiryluk A, Corbani V, Izzi SC, Sterken R, Ristoska-Bojkovska N, Weng PL, Kacak N, Caridi G, State M, Lift on RP, Allegri L, Latos-Bieleńska A, Gucev Z, Scolari F, Tasic V, Ghiggeri GM, Gharavi AG. A genome-wide screen for novel genomic disorders of the kidney and urinary tract development. American Society of Nephrology. Denver, 2010.

  13. Latos- Bieleńska A. Preconceptional care in Poland. Where a 12. re we now and where are we going? 1st European Congress Preconception Care and Preconception Health. Brussels, 6–9.10.2010.

  14. Wiśniewska M, Walkowiak A, Materna-Kiryluk A, Latos-Bieleńska A. Active gentil counseling as a way of oreconception care on the Basic of Polish Registry of Congenital Malformations (PRCM). 1st European Congress Preconception Care and Preconception Health. Brussels, 6–9.10.2010.

  15. Wiśniewska K, Materna-Kiryluk A, Mejnartowicz JP, Więckowska B, Wysocki J, Latos-Bieleńska A and other members of the PRCM Working Group. Determinants of maternal periconceptional folic acid Supplementation in Poland (Data from the Polish Registry of Congenital Malformations – PRCM). 1st European Congress Preconception Care and Preconception Health. Brussels, 6–9.10.2010.

  16. Walencka Z, Baumert M, Wiśniewska K. Folic acid supplementation among women who gave birth to infants with congenital malformations of the central nervous system in Silesia Region between 2001–2003 (Data from Polish Registry of Congenital Malformations – PRCM). 1st European Congress Preconception Care and Preconception Health. Brussels, 6–9.10.2010.

  17. Materna-Kiryluk A, Wiśniewska K, Mejnartowicz J, Latos-Bieleńska A, Więckowska B, Balcar-Boron A, Borszewska-Kornacka M, Czerwionka-Szafl arska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Stańczyk J, Świetliński J, Szwałkiewicz-Warowicka E, Walczak M. Congenital malformations in children delivered by women employed in agriculture and residing in rural areas. 1st European Congress Preconception Care and Preconception Health. Brussels, 6–9.11.2010, 112.

  18. Latos-Bieleńska A, Jamsheer A, Materna-Kiryluk A, Badura-Stronka M, Wiśniewska K and other members of PRCM Working Group. Polish Registry of Congenital Malformations (PRCM) as a robust tool for studying molecular background of congenital malformations. X Europejskie Sympozjum EUROCAT European Symposium on Prevention of Congenital Anomalies. Bilbao, 10–12.06.2009.

  19. Wiśniewska M, Badura-Stronka M, Brodecki B, Richter J and other members of PRCM Working Group. Dysmorphology Platform – a web-based electronic system of dysmorphology consultation in Poland. X Europejskie Sympozjum EUROCAT Prevention of Congenital Anomalies. Bilbao, 10–12.06.2009.

  20. Mejnartowicz J, Materna-Kiryluk A, Boroń A, Czerwionka-Szafl arska M. Associated congenital malformations in children with non-syndromic neural tube defects. X Europejskie Sympozjum EUROCAT Prevention of Congenital Anomalies. Bilbao, 10–12.06.2009.

  21. Materna-Kiryluk A, Wiśniewska K, Jamsheer A, Badura-Stronka M, Mejnartowicz J, Więckowska B, Latos-Bieleńska A. Epidemiology of isolated, non-familial preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). X Europejskie Sympozjum EUROCAT Prevention of Congenital Anomalies. Bilbao, 10–12.06.2009.

  22. Sanna-Cherchi S, Kiryluk K, Sanders S, Izzi C, Bodria M, Materna-Kiryluk A, Corbani V, Carrea A, Kacak N, Caridi G, Sterken R, State M, Lift on RP, Allegri L, Latos-Bieleńska A, Scolari F, Ghiggeri GM, Gharavi AG. Rare copy number variants in congenital anomalies of the kidney and urinary tract. American Society of Nephrology. San Diego, 27.10–1.11.2009, 20:4364.

  23. Latos-Bieleńska A. Birth defects in the Central and Eastern European Region: morbidity, epidemiology, current activities. 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008, 24.

  24. Latos-Bieleńska A, Materna-Kiryluk A, Mejnartowicz JP, Badura-Stronka M, Wiśniewska K, Więckowska B, Wiśniewska M, Zakrzewska M, Glazar R and PRCM Working Group. Congenital malformations in children live born during 1998–2002 in Poland – data from Th e Polish Registry of Congenital Malformations (PRCM). 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008.

  25. Latos-Bieleńska A, Materna-Kiryluk A, Wiśniewska M, Badura-Stronka M, Jamsheer A, Krajewska-Walasek M, Limon J, Mazurczak T and other members of PRCM Working Group. Polish Registry of Congenital Malformations – benefi t for medical genetics. 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008, 97.

  26. Jamsheer A, Badura-Stronka M, Materna-Kiryluk A, Wiśniewska K, Więckowska B, Mejnartowicz J, Balcar-Boroń A, Borszewska-Kornacka M, Czerwionka-Szafl arska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwałkiewicz-Warowicka E, Świetliński J, Walczak M, Latos-Bieleńska A. Amniotic band sequence with and without body wall complex: clinical characteristics suggest two distinct disease entities. 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008.

  27. Materna-Kiryluk A, Latos-Bieleńska A, PRCM Working Group. 26. Organization of Th e Polish Registry of Congenital Malformations. 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008.

  28. Wiśniewska M, Badura-Stronka M, Brodecki B, Richter J, Materna-Kiryluk A, Brzeziński J, Latos-Bieleńska A. Dysmorphology Platform – a web-based electronic system of dysmorphology consultation in Poland. 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008.

  29. Wiśniewska K, Materna-Kiryluk A, Badura-Stronka M, Mejnartowicz J, Więckowska B, Wysocki J, Latos-Bieleńska A and other members of Th e PRCM Working Group. Folic acid supplementation and risk of isolated congenital malformations (Data from Th e Polish Registry of Congenital Malformations – PRCM). 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects. Budapest, 27–30.08.2008.

  30. Latos-Bieleńska A. Registries of Congenital Malformations – challenge and benefi t for medical genetics. Th e 5th International Symposium on Genetics, Health and Disease. Amristar, 17–19.02.2008.

  31. Latos-Bieleńska A, Materna-Kiryluk A, Mejnartowicz J, Wiśniewska K, Badura M, Balcar-Boroń A, Borszewska-Kornacka B, Bręborowicz G, Czerwionka-Szafl arska M, Dobrzańska A, Gadzinowski J, Gajewska E, Godula–Stuglik U, Helwich E, Krawczyński M, Limon J, Sawulicka-Oleszczuk H, Oleszczuk J, Piróg M, Rusin J, Stańczyk J, Szwałkiewicz-Warowicka E, Szczapa J, Świetliński J, Walczak M. Evaluation of prenatal diagnosis of congenital malformations in Poland (2000–2005). 9th European Symposium Prevention of Congenital Anomalies. Naples, 7–9.05.2007.

  32. Latos-Bieleńska A and PRCM Working Group. News from Poland. 22nd Registry Leaders’ Meeting. Naples,7–9.05.2007.

  33. Latos-Bieleńska A and PRCM Working Group. Folic acid supplementation in Poland. State in 2005. 22nd Registry Leaders’ Meeting. Naples, 7–9.05.2007.

  34. Latos-Bieleńska A, Walczak-Sztulpa J, Szczepańska M, Krawczyński M, Zachwieja J, Kuss AW, Ropers H, Zwolińska D, Tzschach A. Cranioectodermal Dysplasia (Sensenbrenner Syndrome) as an example of rare disease. Evolution of phentypic teatures in two siblings. Jubileuszowe Spotkanie Niemieckiego Towarzystwa Genetyki Człowieka z Austriackim Towarzystwem Genetyki Człowieka i Szwajcarskim Towarzystwem Genetyki Medycznej. Bonn, 7–10.03.2007.

  35. Latos-Bieleńska A, Materna-Kiryluk A, Mejnartowicz JP. Polish Registry of Congenital Malformations Cluster & trends surveillance. 21st EUROCAT Registry Leader’s Meeting. Graz, 9–11.06.2006.

  36. Latos-Bieleńska A. Polish Registry of Congenital Malformations. High Level Conference and Exhibition. Malaga, 10–12.05.2006.

  37. Mejnartowicz JP, Materna-Kiryluk A, Czerwionka-Szafl arska M, Krawczyński M, Latos-Bieleńska A. Neural tube defects prevalence in three regions of Western Poland in 1997–2000. APM. 2005, Suppl. 36.

  38. Górska-Kot A. Th e analysis of factors infl uencing high detection rate of congenital heart defects in the podkarpackie province. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–12.06.2005.

  39. Walczak M, Zimoń T, Giżewska M, Celewicz Z, Makowski M, Subicka D, Chrystyniak H, Gawrych E, Baryła-Pankiewicz E, Zajączek S, Staroniewska I, Walczak A, Ronin-Walknowska E, Rudnicki J, Czajka R, Patalan J, Romanowski A, Mejnartowicz J, Materna-Kiryluk A, Latos-Bieleńska A. Prevalence and type of congenital defects among infants born in western Pomeranian district in the years 1998–1999. APM. 2005, Suppl. 44.

  40. Ksioński S, Materna-Kiryluk A, Wiśniewska K, Mejnartowicz J, Balcar-Boroń A, Czerwionka-Szafl arska M, Gajewska E, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Stańczyk J, Szwałkiewicz-Warowicka E, Świetliński J, Walczak M, Wierzba J, Latos-Bieleńska A. Hydrocephaly and microcephaly in children born between 1998–2002 in Poland and California – epidemiological studies. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. 35.

  41. Kossakowska-Krajewska A, Szwałkiewicz-Warowicka E, Materna-Kiryluk A, Wiśniewska K, Mejnartowicz J, Sorbaj-Sucharska G, Latos-Bieleńska A. Congenital malformations of newborns in the Olsztyn province in 1998 and the Warmia-Mazury province (1999–2000) incidence and epidemiological analysis. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. 43.

  42. Materna-Kiryluk A, Wiśniewska K, Mejnartowicz J, Balcar-Boroń A, Czerwionka-Szafl arska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Stańczyk J, Szwałkiewicz-Warowicka E, Świetliński J, Walczak M, Kamiński K, Latos-Bieleńska A. Maternal age as a risk factory for isolated congenital malformations in children identifi ed by the Polish Registry of Congenital Malformations. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. 34.

  43. Krawczyński MR, Materna-Kiryluk A, Mejnartowicz J, Balcar-Boroń A, Czerwionka-Szafl arska M, Gajewska E, Krawczyński M, Limon J, Stańczyk J, Szwałkiewicz-Warowicka E, Walczak M, Latos-Bieleńska A. Congenital malformations of the organ of vision: epidemiological data based on Polish Registry of Congenital Malformations 1997–2001, diagnostic recommendations and genetic counselling. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. SO3:14.

  44. Wierzba J, Jagłowska J, Maternik M, Darkiewicz A, K 43. osiak W, Czarniak P, Ochman K, Żurowska A, Limon J. Coincidence of urinary tract abnormalities with other malformations from Polish Registry of Congenital Malformations in Pomeranian region since 1999 to 2001 year. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. 45.

  45. Buczyńska A, Murowaniecki Z, Tarkowski S, Materna-Kiryluk A, Latos-Bieleńska A. Spatial evaluation of birth defects and environmental hazards in Poland – pilot study. APM. Th e 8th European Symposium Prevention of Congenital Anomalies. Poznań, 9–10.06.2005, Suppl. 47.

  46. Latos-Bieleńska A. Genetic counseling: comparative situation in Europe. 19th EUROCAT Registry Leader Meeting. Bergen, 4–5.06.2004.

  47. Latos-Bieleńska A, Materna-Kiryluk A, Mejnartowicz J, Glazar R, Wiśniewska M. Results of response of families at risk to the information on genetic counseling – data from the Polish Registry of Congenital Malformations (PRCM). 7th European Symposium of the Prevention of Congenital Anomalies, 18th EUROCAT Registry Leaders Meeting. Heidelberg, 29.05–1.06.2003.

  48. Latos-Bieleńska A. Problem wad wrodzonych w świetle Polskiego Rejestru Wrodzonych Wad Rozwojowych. III Neonatologiczna Szkoła Zimowa: Epidemiologia, zapobieganie, wykrywanie i możliwości korekcyjne wad wrodzonych w okresie noworodkowym. Podbanske – Wysokie Tatry, 24.02–1.03.2003.

  49. Zawirska A, Materna-Kiryluk A, Mejnartowicz JP, Latos-Bieleńska A et al.Th e incidence and types of congenital malformations of the skin and appendages in Polish population. JEADV. 2002, 16 (Suppl. 1):115–341.

  50. Latos-Bieleńska A. Polish Registry of Congenital Malformations. 6th European Symposium on Prevention of Congenital Anomalie. Catania, 1–4.06.2001.

  51. Latos-Bieleńska A. Polish Registry of Congenital Malformations. Max-Planck Institut für Molekulare Genetik. Berlin, 25.11.2001.

  52. Latos-Bieleńska A, Materna-Kiryluk A, Mejnartowicz JP, Krawczyński M, Balcar-Boroń A, Limon J, Gajewska E, Walczak M, Stańczyk J, Szwałkiewicz-Warowicka E, Krawczyński MR, Wiśniewska M, Glazar R, Wolnik-Brzozowska D, Błońska-Polarczyk B, Ignyś A. Polish Registry of Congenital Malformations – the improvement of identifi cation of malformed children and the genetic care in their families. 31st Annual Meeting of the European Society of Human Genetics. Geneva, 29.05–1.06.1999.

  53. Mejnartowicz JP, Czyżewska M, Materna-Kiryluk A, Krawczyński M, Balcar-Boroń A, Limon J, Gajewska E, Walczak M, Stańczyk J, Szwałkiewicz-Warowicka E, Krawczyński MR, Wiśniewska M, Glazar R, Wolnik-Brzozowska D, Błońska-Polarczyk B, Ignyś A, Latos-Bieleńska A. Neural tube defects: main epidemiological features – a population based study from Polish Registry of Congenital Malformations. 31st Annual Meeting of the European Society of Human Genetics. Geneva, 29.05–1.06.1999.

  54. Latos-Bieleńska A, Materna-Kiryluk A, Krawczyński MR, Mejnartowicz JP, Krawczyński M, Gajewska E, Limon J, Balcar-Boroń A, Walczak M, Stańczyk J. Genital Malformations in Poland – Data from the Polish Registry of Congenital Malformations. Hormone Research. 1999, 51 (Suppl 2):78.

  55. Latos-Bieleńska A, Materna-Kiryluk A, Krawczyński MR, Krawczyński M, Limon J, Balcar-Boroń A, Gajewska E, Walczak M Stańczyk J, Szymański W, Mejnartowicz JP, Wiśniewska M, Wolnik-Brzozowska D, Glazar R, Ignyś A, Błońska-Polarczyk A. Polish Registry of Congenital Defects: a source for epidemiological research and application to improvement of genetic care for families at risk. 22nd International Congress of Paediatrics. Amsterdam, 8–15.08.1998.

  56. Wiśniewska M, Wolnik-Brzozowska D, Glazar R, Krawczyński MR, Latos-Bieleńska A. Regional registry of congenital defects as an important factor of improvement of genetic care for families at risk. 22nd International Congress of Paediatrics. Amsterdam, 8–15.08.1998.

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