Paulussen, Aimée D. C.: search on Z-Library

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1

Agilent Technologies OnePGT solution: External verification on both blastomere and trophectoderm biopsies

Esteki, Masoud. Zamani, Melotte, Cindy, Coonen, Edith, Dreesen, Joseph, Paulussen, Aimee, Dumoulin, John, Van Uum, Christian, Drusedau, Marion, Engelen, John, Derks, Kasper, Van Golde, R., Dimitriadou

Journal:

Reproductive BioMedicine Online

Year:

2019

Language:

english

File:

PDF, 48 KB

english, 2019

2

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices

Sallevelt, Suzanne C E H, Dreesen, Joseph C F M, Coonen, Edith, Paulussen, Aimee D C, Hellebrekers, Debby M E I, de Die-Smulders, Christine E M, Smeets, Hubert J M, Lindsey, Patrick

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 543 KB

english, 2017

3

Fruit consumption reduces the effect of smoking on bladder cancer risk. The Belgian case control study on bladder cancer

Eliane Kellen, Maurice Zeegers, Aimée Paulussen, Martien Van Dongen, Frank Buntinx

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

4

Pharmacogenomics and acquired long QT syndrome

Aerssens, Jeroen, Paulussen, Aimée DC

Journal:

Pharmacogenomics

Year:

2005

Language:

english

File:

PDF, 217 KB

english, 2005

5

Influence of the endothelial nitric oxide synthase gene on conventional and ambulatory blood pressure: sib-pair analysis and haplotype study

Persu, Alexandre, Vinck, Wouter J, Khattabi, Ouarda El, Janssen, Rob GJH, Paulussen, Aimée DC, Devuyst, Olivier, Vlietinck, Robert, Fagard, Robert H

Journal:

Journal of Hypertension

Year:

2005

Language:

english

File:

PDF, 129 KB

english, 2005

6

A comprehensive strategy for exome-based preconception carrier screening

Sallevelt, Suzanne C.E.H., de Koning, Bart, Szklarczyk, Radek, Paulussen, Aimee D.C., de Die-Smulders, Christine E.M., Smeets, Hubert J.M.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 3.27 MB

english, 2016

7

Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly; clinical implications

Kremer Hovinga, Idske. C.L., Giltay, Jacques C., van der Crabben, Saskia N., Steyls, Anja, van der Kamp, Hetty J., Paulussen, Aimee D.C.

Journal:

Clinical Endocrinology

Year:

2018

Language:

english

File:

PDF, 394 KB

english, 2018

8

Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk

Eliane Kellen, Maurice Zeegers, Aimée Paulussen, Robert Vlietinck, Eddy Van Vlem, Hendrik Veulemans, Frank Buntinx

Journal:

Year:

2007

Language:

english

File:

PDF, 127 KB

english, 2007

9

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Sallevelt, Suzanne C.E.H., Dreesen, Joseph C.F.M., Drüsedau, Marion, Hellebrekers, Debby M.E.I., Paulussen, Aimee D.C., Coonen, Edith, van Golde, Ronald J.T., Geraedts, Joep P.M., Gianaroli, Luca, Mag

Journal:

Human Reproduction

Year:

2017

Language:

english

File:

PDF, 512 KB

english, 2017

10

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

Gielen, Robbert-Jan C. A. M., Reinders, Marieke G. H. C., Koillinen, Hannele K., Paulussen, Aimée D. C., Mosterd, Klara, van Geel, Michel

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 821 KB

english, 2018

11

Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion

Aimée Paulussen, Ping Yang, Menelas Pangalos, Peter Verhasselt, Roger Marrannes, Christel Verfaille, Ine Vandenberk, Raf Crabbe, Frank Konings, Walter Luyten, Martin Armstrong

Journal:

Year:

2000

Language:

english

File:

PDF, 30 KB

english, 2000

12

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

Sietske H.G. Kevelam, Jeske J.T. van Harssel, Bert van der Zwaag, Hubertus J.M. Smeets, Aimee D.C. Paulussen, Klaske D. Lichtenbelt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

13

Twin-Specific Intrauterine ‘Growth’ Charts Based on Cross-Sectional Birthweight Data

Gielen, Marij, Lindsey, Patrick J., Derom, Catherine, Loos, Ruth J. F., Souren, Nicole Y., Paulussen, Aimee D. C., Zeegers, Maurice P., Derom, Robert, Vlietinck, Robert, Nijhuis, Jan G.

Journal:

Twin Research and Human Genetics

Year:

2008

Language:

english

File:

PDF, 343 KB

english, 2008

14

New insights into minor splicing – A transcriptomic analysis of cells derived from TALS patients

Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., de Die-Smulders, Christine EM, Paulussen, Aimee DC, Pinson, Lucile, Toutain, Annick

Journal:

Year:

2019

File:

PDF, 1.18 MB

2019

15

10.1097/00008571-200007000-00005

Paulussen, Aimee, Lavrijsen, Karel, Bohets, Hilde, Hendrickx, Jan, Verhasselt, Peter, Luyten, Walter, Konings, Frank, Armstrong, Martin

Journal:

Pharmacogenetics

Year:

2000

Language:

english

File:

PDF, 715 KB

english, 2000

16

P0050PRE-IMPLANTATION GENETIC TESTING FOR MONOGENIC KIDNEY DISEASE: TWENTY-FIVE YEAR EXPERIENCE IN THE NETHERLANDS

Snoek, R, Stokman, Marijn F, Lichtenbelt, Klaske D, Simcox, Cindy E, Van Tilborg, Theodora C, Paulussen, Aimee D C, Dreessen, Jos C M F, Van Reekum, Franka, Knoers, Nine, De Die-Smulders, Christine, V

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 86 KB

2020

17

Präimplantationsdiagnostik in den Niederlanden

Geraedts, Joep, Coonen, Edith, Dreesen, Jos, Paulussen, Aimee, de Die‑Smulders, Christine

Journal:

medizinische genetik

Year:

2016

Language:

german

File:

PDF, 309 KB

german, 2016

18

Genetic variations ofKCNQ1, KCNH2, SCN5A, KCNE1, andKCNE2in drug-induced long QT syndrome patients

AiméeD.C. Paulussen, RonaldusA.H.J. Gilissen, Martin Armstrong, PieterA. Doevendans, Peter Verhasselt, HubertJ.M. Smeets, Eric Schulze-Bahr, Wilhelm Haverkamp, Günter Breithardt, Nadine Cohen, Jeroen

Journal:

Journal of Molecular Medicine

Year:

2004

Language:

english

File:

PDF, 227 KB

english, 2004

19

The Effect of ITPA Polymorphisms on the Enzyme Kinetic Properties of Human Erythrocyte Inosine Triphosphatase Toward its Substrates ITP and 6-Thio-ITP

Bakker, Jaap A., Lindhout, Martijn, Habets, Daphna D.J., van den Wijngaard, Arthur, Paulussen, Aimee D.C., Bierau, Jörgen

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2011

Language:

english

File:

PDF, 233 KB

english, 2011

20

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence HJ, Krapels, Ingrid P C, Claes, Godelieve RF, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzue

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 3.24 MB

english, 2016

21

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale, Sylvie Odent, Vèronique David, Maximilian Muen

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

22

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., Stock-Myer,

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 945 KB

english, 2014

23

Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors

Derks-Smeets, Inge A. P., de Die-Smulders, Christine E. M., Mackens, Shari, van Golde, Ron, Paulussen, Aimee D., Dreesen, Jos, Tournaye, Herman, Verdyck, Pieter, Tjan-Heijnen, Vivianne C. G., Meijer-H

Journal:

Breast Cancer Research and Treatment

Year:

2014

Language:

english

File:

PDF, 216 KB

english, 2014

24

Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma

Brinkhuizen, Tjinta, Reinders, Marie G., van Geel, Michel, Hendriksen, Annelot J.L., Paulussen, Aimée D.C., Winnepenninckx, Véronique J., Keymeulen, Kristien B., Soetekouw, Patricia M.M.B., van Steens

Journal:

Journal of the American Academy of Dermatology

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

25

Genetics of maximally attained lung function: A role for leptin?

Bram van den Borst, Nicole Y.P. Souren, Ruth J.F. Loos, Aimée D.C. Paulussen, Catherine Derom, Annemie M.W.J. Schols, Maurice P. Zeegers

Journal:

Respiratory Medicine

Year:

2012

Language:

english

File:

PDF, 172 KB

english, 2012

26

Therapeutic drug monitoring of thiopurine metabolites in adult thiopurine tolerant IBD patients on maintenance therapy

Lennard P.L. Gilissen, Dennis R. Wong, Leopold G.J.B. Engels, Jörgen Bierau, Jaap A. Bakker, Aimée D.C. Paulussen, Mariëlle J. Romberg-Camps, Arnold Stronkhorst, Paul Bus, Laurens P. Bos, Piet M. Hooy

Journal:

Journal of Crohn's and Colitis

Year:

2012

Language:

english

File:

PDF, 546 KB

english, 2012

27

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Otten, Auke B C, Sallevelt, Suzanne C E H, Carling, Phillippa J, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D C, de Die-Smulders, Christine E M, Herbert, Mary, Chinnery

Journal:

Human Reproduction

Year:

2018

Language:

english

File:

PDF, 324 KB

english, 2018

28

Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis

Moonen, Rob M J, Paulussen, Aimee D C, Souren, Nicole Y P, Kessels, Alfons G H, Rubio-Gozalbo, M Estela, Villamor, Eduardo

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 111 KB

english, 2007

29

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Kamps, Rick, Brandão, Rita, Bosch, Bianca, Paulussen, Aimee, Xanthoulea, Sofia, Blok, Marinus, Romano, Andrea

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 1.66 MB

english, 2017

30

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon,

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 463 KB

english, 2010

31

New mutations and an updated database for the patched-1 ( PTCH1 ) gene

Reinders, Marie G., van Hout, Antonius F., Cosgun, Betûl, Paulussen, Aimée D., Leter, Edward M., Steijlen, Peter M., Mosterd, Klara, van Geel, Michel, Gille, Johan J.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 410 KB

english, 2018

32

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity

Peltenburg, N Chantal, Bierau, Jörgen, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Andrinopoulou, Eleni-Rosalina, Bakker, Jaap A, Verbon,

Journal:

Journal of Antimicrobial Chemotherapy

Year:

2018

Language:

english

File:

PDF, 321 KB

english, 2018

33

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time

Coenen, Marieke J.H., Paulussen, Aimée D.C., Breuer, Marc, Lindhout, Martijn, Tserpelis, Demis C.J., Steyls, Anja, Bierau, Jörgen, van den Bosch, Bianca J.C.

Journal:

Current Therapeutic Research

Year:

2019

Language:

english

File:

PDF, 687 KB

english, 2019

34

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée D. C. Paulussen, Alexander P. A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric E. J. G. L. Smeets, Annemieke Wagemans, Jaap J. P. Schrander, Marie-José H.

Journal:

Year:

2011

Language:

english

File:

PDF, 179 KB

english, 2011

35

New insights into minor splicing – A transcriptomic analysis of cells derived from TALS patients

Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., de Die-Smulders, Christine EM, Paulussen, Aimee DC, Pinson, Lucile, Toutain, Annick

Journal:

Year:

2019

Language:

english

File:

PDF, 1.18 MB

english, 2019

36

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Erich Roessler, Kenia B. El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel E. Pineda-Álvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen, Hubert J. Smeets,

Journal:

Year:

2009

Language:

english

File:

PDF, 1011 KB

english, 2009

37

Inosine Triphosphate Pyrophosphohydrolase Expression

Peltenburg, N. Chantal, Leers, Mathie P. G., Bakker, Jaap A., Lowe, Selwyn H., Vroemen, Wim H. M., Paulussen, Aimée D. C., van den Bosch, Bianca J. C., Bierau, Jörgen, Verbon, Annelies

Journal:

JAIDS Journal of Acquired Immune Deficiency Syndromes

Year:

2016

Language:

english

File:

PDF, 288 KB

english, 2016

38

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Heijligers, Malou, van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, van der Schoot,

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2018

Language:

english

File:

PDF, 423 KB

english, 2018

39

Two functionally relevant polymorphisms in the human progesterone receptor gene (+331 G/A and progins) and the predisposition for breast and/or ovarian cancer

Andrea Romano, Patrick J. Lindsey, Dagmar-C. Fischer, Bert Delvoux, Aimee D.C. Paulussen, Rob G. Janssen, Dirk G. Kieback

Journal:

Gynecologic Oncology

Year:

2006

Language:

english

File:

PDF, 231 KB

english, 2006

40

Genetic basis of drug‐induced arrhythmias

Vos, Marc, Paulussen, Aimée DC

Journal:

Annals of Medicine

Year:

2004

Language:

english

File:

PDF, 172 KB

english, 2004

41

Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in KCNQ1 and SCN5A

Paulussen, Aimée, Matthijs, Gert, Gewillig, Marc, Verhasselt, Peter, Cohen, Nadine, Aerssens, Jeroen

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 178 KB

english, 2003

42

or Its Altered Synthesis

Roessler, Erich, El-jaick, Kenia B, Dubourg, Christèle, Vélez, Jorge I, Benjamin, D, Pineda-álvarez, Daniel E, Lacbawan, Felicitas, Zhou, Nan, Paulussen, Aimée, Smeets, Hubert J, Hehr, Ute, Bendavid,

Year:

2009

Language:

english

File:

PDF, 2.79 MB

english, 2009

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