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dr. D.E. (Dietje) Fransen van de Putte

dr. D.E. (Dietje) Fransen van de Putte

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Cancer

Research Output (37)

Managing women-specific bleeding in inherited bleeding disorders:A multidisciplinary approach

Mauser-Bunschoten Eveline P., Kadir Rezan A., Laan Ellen T.M., Elfvinge Petra, Haverman Lotte, Teela Lorynn, Degenaar Manon E.L., Fransen van de Putte Dietje E., D'Oiron Roseline, van Galen Karin P.M. 2020, In: Haemophilia. 27 , p. 463-469 7 p.

Correction:Putting genome-wide sequencing in neonates into perspective

van der Sluijs Pleuntje J., Aten Emmelien, Barge-Schaapveld Daniela Q.C.M., Bijlsma Emilia K., Bökenkamp-Gramann Regina, Kaat Laura Donker, van Doorn Remco, van de Putte Dietje Fransen, van Haeringen Arie, ten Harkel Arend D.J., Hilhorst-Hofstee Yvonne, Hoffer Mariette J.V., den Hollander Nicolette S., van Ierland Yvette, Koopmans Marije, Kriek Marjolein, Moghadasi Setareh, Nibbeling Esther A.R., Peeters-Scholte Cacha M.P.C.D., Potjer Thomas P., van Rij Maartje, Ruivenkamp Claudia A.L., Rutten Julie W., Steggerda Sylke J., Suerink Manon, Tan Ratna N.G.B., van der Tuin Karin, Visser Remco, van der Werf–t Lam Anne Sophie, Williams Monique, Witlox Ruben, Santen Gijs W.E. 1 Sep 2019, In: Genetics in Medicine. 21 , p. 2159-2164 6 p.

Putting genome-wide sequencing in neonates into perspective

van der Sluijs Pleuntje J., Aten Emmelien, Barge-Schaapveld Daniela Q.C.M., Bijlsma Emilia K., Bökenkamp-Gramann Regina, Donker Kaat Laura, van Doorn Remco, van de Putte Dietje Fransen, van Haeringen Arie, ten Harkel Arend D.J., Hilhorst-Hofstee Yvonne, Hoffer Mariette J.V., den Hollander Nicolette S., van Ierland Yvette, Koopmans Marije, Kriek Marjolein, Moghadasi Setareh, Nibbeling Esther A.R., Peeters-Scholte Cacha M.P.C.D., Potjer Thomas P., van Rij Maartje, Ruivenkamp Claudia A.L., Rutten Julie W., Steggerda Sylke J., Suerink Manon, Tan Ratna N.G.B., van der Tuin Karin, Visser Remco, van der Werf –’t Lam Anne Sophie, Williams Monique, Witlox Ruben, Santen Gijs W.E. 1 May 2019, In: Genetics in Medicine. 21 , p. 1074-1082 9 p.

Erratum:A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The American Journal of Human Genetics (2018) 102(5) (995–1007), (S0002929718300946) (10.1016/j.ajhg.2018.03.005))

Olson Heather E., Jean-Marçais Nolwenn, Yang Edward, Heron Delphine, Tatton-Brown Katrina, van der Zwaag Paul A., Bijlsma Emilia K., Krock Bryan L., Backer E., Kamsteeg Erik Jan, Sinnema Margje, Reijnders Margot R.F., Bearden David, Begtrup Amber, Telegrafi Aida, Lunsing Roelineke J., Burglen Lydie, Lesca Gaetan, Cho Megan T., Smith Lacey A., Sheidley Beth R., El Achkar Christelle Moufawad, Pearl Phillip L., Poduri Annapurna, Skraban Cara M., Tarpinian Jennifer, Nesbitt Addie I., Fransen van de Putte Dietje E., Ruivenkamp Claudia A.L., Rump Patrick, Chatron Nicolas, Sabatier Isabelle, De Bellescize Julitta, Guibaud Laurent, Sweetser David A., Waxler Jessica L., Wierenga Klaas J., Donadieu Jean, Narayanan Vinodh, Ramsey Keri M., Nava Caroline, Rivière Jean Baptiste, Vitobello Antonio, Mau-Them Frédéric Tran, Philippe Christophe, Bruel Ange Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan H., Schuurs-Hoeijmakers Janneke, , 4 Oct 2018, In: American Journal of Human Genetics. 103 1 p.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson Heather E, Jean-Marçais Nolwenn, Yang Edward, Heron Delphine, Tatton-Brown Katrina, van der Zwaag Paul A, Bijlsma Emilia K, Krock Bryan L, Backer E, Kamsteeg Erik-Jan, Sinnema Margje, Reijnders Margot R F, Bearden David, Begtrup Amber, Telegrafi Aida, Lunsing Roelineke J, Burglen Lydie, Lesca Gaetan, Cho Megan T, Smith Lacey A, Sheidley Beth R, Moufawad El Achkar Christelle, Pearl Phillip L, Poduri Annapurna, Skraban Cara M, Tarpinian Jennifer, Nesbitt Addie I, Fransen van de Putte Dietje E, Ruivenkamp Claudia A L, Rump Patrick, Chatron Nicolas, Sabatier Isabelle, De Bellescize Julitta, Guibaud Laurent, Sweetser David A, Waxler Jessica L, Wierenga Klaas J, Donadieu Jean, Narayanan Vinodh, Ramsey Keri M, Nava Caroline, Rivière Jean-Baptiste, Vitobello Antonio, Tran Mau-Them Frédéric, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan H, Schuurs-Hoeijmakers Janneke, 2018, In: American Journal of Human Genetics. 102 , p. 995-1007 13 p.

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Fransen van de Putte D. E., Frankhuizen W. S., Vijfhuizen L., Groenewegen L., Tamminga R. Y J, Bouman K., van Essen A. J., Gijsbers A. C J, Ruivenkamp C. A L, Boon E. M J 1 Jan 2015, In: Haemophilia. 21 , p. e237-e239

Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions:a case report

Adama van Scheltema Phebe N, Zhang Ai, Ball Lynne M, Steggerda Sylke J, van Wijk Richard, Fransen van de Putte Dietje E, van Kamp Inge L 2015, In: Clinical case reports. 3 , p. 862-5 4 p.

Long-term follow-up of hepatitis C infection in a large cohort of patients with inherited bleeding disorders

Fransen van de Putte D.E., Makris M., Fischer K., Yee T.T., Kirk L., van Erpecum K.J., Patch D., Posthouwer D., Mauser-Bunschoten E.P. Jan 2014, In: Journal of Hepatology. 60 , p. 39-45 7 p.

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

Coebergh J A, Fransen van de Putte D E, Snoeck I N, Ruivenkamp C, van Haeringen A, Smit L M 2014, In: European Journal of Paediatric Neurology. 18 , p. 413-5 3 p.

Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation

Mauser-Bunschoten E.P., Fransen van de Putte D.E., Ploos van Amstel H.K., Spoor M., Schutgens R.E.G. Dec 2013, In: Journal of Thrombosis and Haemostasis. 11 , p. 2179-2181 3 p.

All research output

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