Boonen SE - Search Results

1

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. Zweier C, et al. Among authors: boonen se. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728071

2

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Mackay DJ, et al. Among authors: boonen se. Hum Genet. 2006 Mar;119(1-2):179-84. doi: 10.1007/s00439-005-0127-4. Epub 2006 Jan 5. Hum Genet. 2006. PMID: 16402210

3

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. Mackay DJ, et al. Among authors: boonen se. Hum Genet. 2006 Sep;120(2):262-9. doi: 10.1007/s00439-006-0205-2. Epub 2006 Jul 1. Hum Genet. 2006. PMID: 16816970

4

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.

5

Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?

Boonen SE, Hoffmann AL, Donnai D, Tümer Z, Ravn K. Boonen SE, et al. Eur J Med Genet. 2011 May-Jun;54(3):374-5. doi: 10.1016/j.ejmg.2011.01.002. Epub 2011 Jan 18. Eur J Med Genet. 2011. PMID: 21252005 No abstract available.

6

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. Among authors: boonen se. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

7

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, Tümer Z, Grønskov K, Temple IK, Guldberg P, Tommerup N. Bak M, et al. Among authors: boonen se. BMC Med Genet. 2016 Apr 14;17:29. doi: 10.1186/s12881-016-0292-4. BMC Med Genet. 2016. PMID: 27075368 Free PMC article.

8

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K. Boonen SE, et al. Eur J Hum Genet. 2012 Jan;20(1):119-21. doi: 10.1038/ejhg.2011.140. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863059 Free PMC article.

9

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.

Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z. Boonen SE, et al. Am J Med Genet A. 2005 Jan 30;132A(3):324-8. doi: 10.1002/ajmg.a.30422. Am J Med Genet A. 2005. PMID: 15690381 Review.

10

[Fragile X chromosomes and fragile X syndrome].

Boonen SE, Grønskov K, Brøndum-Nielsen K. Boonen SE, et al. Ugeskr Laeger. 2006 Oct 23;168(43):3727-8. Ugeskr Laeger. 2006. PMID: 17069739 Danish.

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