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1.

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

van der Meij, Karuna R M; Sistermans, Erik A; Macville, Merryn V E; Stevens, Servi J C; Bax, Caroline J; Bekker, Mireille N; Bilardo, Caterina M; Boon, Elles M J; Boter, Marjan; Diderich, Karin E M; de Die-Smulders, Christine E M; Duin, Leonie K; Faas, Brigitte H W; Feenstra, Ilse; Haak, Monique C; Hoffer, Mariëtte J V; den Hollander, Nicolette S; Hollink, Iris H I M; Jehee, Fernanda S; Knapen, Maarten F C M; Kooper, Angelique J A; van Langen, Irene M; Lichtenbelt, Klaske D; Linskens, Ingeborg H; van Maarle, Merel C; Oepkes, Dick; Pieters, Mijntje J; Schuring-Blom, G Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F C M; Srebniak, Malgorzata I; Suijkerbuijk, Ron F; Tan-Sindhunata, Gita M; van der Ven, A Jeanine E M; van Zelderen-Bhola, Shama L; Henneman, Lidewij; Galjaard, Robert-Jan H; Van Opstal, Diane; Weiss, Marjan M.

Am J Hum Genet; 105(6): 1091-1101, 2019 12 05.

Artículo en Inglés | MEDLINE | ID: mdl-31708118

2.

Detection of West Nile virus in a common whitethroat (Curruca communis) and Culex mosquitoes in the Netherlands, 2020.

Sikkema, Reina S; Schrama, Maarten; van den Berg, Tijs; Morren, Jolien; Munger, Emmanuelle; Krol, Louie; van der Beek, Jordy G; Blom, Rody; Chestakova, Irina; van der Linden, Anne; Boter, Marjan; van Mastrigt, Tjomme; Molenkamp, Richard; Koenraadt, Constantianus Jm; van den Brand, Judith Ma; Oude Munnink, Bas B; Koopmans, Marion Pg; van der Jeugd, Henk.

Euro Surveill; 25(40)2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-33034280

3.

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.

Van Opstal, Diane; van Veen, Stefanie; Joosten, Marieke; Diderich, Karin E M; Govaerts, Lutgarde C P; Polak, Joke; van Koetsveld, Nicole; Boter, Marjan; Go, Attie T J I; Papatsonis, Dimitri N M; Prinsen, Krista; Hoefsloot, Lies H; Srebniak, Malgorzata I.

Prenat Diagn; 39(11): 1016-1025, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31321790

4.

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Van Opstal, Diane; Diderich, Karin E M; Joosten, Marieke; Govaerts, Lutgarde C P; Polak, Joke; Boter, Marjan; Saris, Jasper J; Cheung, Wai Yee; van Veen, Stefanie; van de Helm, Robert; Go, Attie T J I; Knapen, Maarten F C M; Papatsonis, Dimitri N M; Dijkman, Anneke; de Vries, Femke; Galjaard, Robert-Jan H; Hoefsloot, Lies H; Srebniak, Malgorzata I.

Prenat Diagn; 38(12): 911-919, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30187503

5.

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

Srebniak, Malgorzata I; Knapen, Maarten F C M; Polak, Marike; Joosten, Marieke; Diderich, Karin E M; Govaerts, Lutgarde C P; Boter, Marjan; Kromosoeto, Joan N R; van Hassel, Daniella Aloysia C M; Huijbregts, Gido; van IJcken, Wilfred F J; Heydanus, Roger; Dijkman, Anneke; Toolenaar, Toon; de Vries, Femke A T; Knijnenburg, Jeroen; Go, Attie T J I; Galjaard, Robert-Jan H; Van Opstal, Diane.

Hum Mutat; 38(7): 880-888, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28409863

6.

The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.

Tomaszewska, Agnieszka; Behrendt, Jakub; Boter, Marjan; Wawrzkiewicz-Witkowska, Angelika; Bos, Marnix J; Podbiol-Palenta, Agnieszka; Godula-Stuglik, Urszula; Galjaard, Robert-Jan H; Srebniak, Malgorzata I.

Am J Med Genet A; 170A(5): 1283-7, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-26789739

7.

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.

Van Opstal, Diane; de Vries, Femke; Govaerts, Lutgarde; Boter, Marjan; Lont, Debora; van Veen, Stefanie; Joosten, Marieke; Diderich, Karin; Galjaard, Robert-Jan; Srebniak, Malgorzata I.

Hum Mutat; 36(3): 319-26, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25504762

8.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.

Van Opstal, Diane; Eggenhuizen, Geerke M; Joosten, Marieke; Diderich, Karin; Govaerts, Lutgarde; Galjaard, Robert-Jan; Go, Attie; Knapen, Maarten; Boter, Marjan; Cheung, Wai Y; van Koetsveld, Nicole; van Veen, Stefanie; de Valk, Walter G; Jehee, Fernanda; de Vries, Femke; Hollink, Iris; Hoefsloot, Lies; Srebniak, Malgorzata.

Prenat Diagn; 40(10): 1338-1342, 2020 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-32533714

9.

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Tomaszewska, Agnieszka; Podbiol-Palenta, Agnieszka; Boter, Marjan; Geisler, Gabriela; Wawrzkiewicz-Witkowska, Angelika; Galjaard, Robert-Jan H; Zajaczek, Stanislaw; Srebniak, Malgorzata I.

Am J Med Genet A; 161A(9): 2347-51, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23918240

10.

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Srebniak, Malgorzata I; Diderich, Karin Em; Joosten, Marieke; Govaerts, Lutgarde Cp; Knijnenburg, Jeroen; de Vries, Femke At; Boter, Marjan; Lont, Debora; Knapen, Maarten Fcm; de Wit, Merel C; Go, Attie Tji; Galjaard, Robert-Jan H; Van Opstal, Diane.

Eur J Hum Genet; 24(5): 645-51, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-26328504

11.

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

Cools, Martine; van Aerde, Koen; Kersemaekers, Anne-Marie; Boter, Marjan; Drop, Stenvert L S; Wolffenbuttel, Katja P; Steyerberg, Ewout W; Oosterhuis, J Wolter; Looijenga, Leendert H J.

J Clin Endocrinol Metab; 90(9): 5295-303, 2005 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-15998778

12.

Stable X chromosome reactivation in female human induced pluripotent stem cells.

Barakat, Tahsin Stefan; Ghazvini, Mehrnaz; de Hoon, Bas; Li, Tracy; Eussen, Bert; Douben, Hannie; van der Linden, Reinier; van der Stap, Nathalie; Boter, Marjan; Laven, Joop S; Galjaard, Robert-Jan; Grootegoed, J Anton; de Klein, Annelies; Gribnau, Joost.

Stem Cell Reports; 4(2): 199-208, 2015 Feb 10.

Artículo en Inglés | MEDLINE | ID: mdl-25640760

13.

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies.

Eur J Hum Genet; 20(3): 298-304, 2012 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-22071887

14.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Srebniak, Malgorzata I; Boter, Marjan; Oudesluijs, Gretel O; Cohen-Overbeek, Titia; Govaerts, Lutgarde Cp; Diderich, Karin Em; Oegema, Renske; Knapen, Maarten Fcm; van de Laar, Ingrid Mbh; Joosten, Marieke; Van Opstal, Diane; Galjaard, Robert-Jan H.

Mol Cytogenet; 5(1): 14, 2012 Mar 13.

Artículo en Inglés | MEDLINE | ID: mdl-22413963

15.

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.

Van Opstal, Diane; Boter, Marjan; Noomen, Petra; Srebniak, Malgorzata; Hamers, Guus; Galjaard, Robert-Jan H.

Mol Cytogenet; 4: 2, 2011 Jan 14.

Artículo en Inglés | MEDLINE | ID: mdl-21235775

16.

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Srebniak, Malgorzata; Boter, Marjan; Oudesluijs, Grétel; Joosten, Marieke; Govaerts, Lutgarde; Van Opstal, Diane; Galjaard, Robert-Jan H.

Eur J Hum Genet; 19(12): 1230-7, 2011 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-21694736

17.

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Srebniak, Malgorzata I; Boter, Marjan; Verboven-Peerden, Carla Ma; Looye-Bruinsma, Gerda Ag; Oudesluijs, Gretel; Galjaard, Robert-Jan H; Van Opstal, Diane.

Mol Cytogenet; 4(1): 27, 2011 Dec 02.

Artículo en Inglés | MEDLINE | ID: mdl-22136596

18.

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

Van Opstal, Diane; Boter, Marjan; de Jong, Danielle; van den Berg, Cardi; Brüggenwirth, Hennie T; Wildschut, Hajo I J; de Klein, Annelies; Galjaard, Robert-Jan H.

Eur J Hum Genet; 17(1): 112-21, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-18781187

19.

Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads.

Cools, Martine; Boter, Marjan; van Gurp, Ruud; Stoop, Hans; Poddighe, Pino; Lau, Yun-Fai Chris; Drop, Stenvert L S; Wolffenbuttel, Katja P; Looijenga, Leendert H J.

Clin Endocrinol (Oxf); 67(2): 184-92, 2007 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-17547684

20.

VASA is a specific marker for both normal and malignant human germ cells.

Zeeman, Anne-Marie; Stoop, Hans; Boter, Marjan; Gillis, Ad J M; Castrillon, Diego H; Oosterhuis, J Wolter; Looijenga, Leendert H J.

Lab Invest; 82(2): 159-66, 2002 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-11850529

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