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Results: 1 to 20 of 68

1.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.

Hum Genet. 2014 Aug;133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.

PMID:
24728844
[PubMed - indexed for MEDLINE]
2.

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.

Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q.

J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21.

PMID:
24145515
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.

Zachariadis V, Schoumans J, Ofverholm I, Barbany G, Halvardsson E, Forestier E, Johansson B, Nordenskjöld M, Nordgren A.

Leukemia. 2014 Jan;28(1):196-8. doi: 10.1038/leu.2013.189. Epub 2013 Jun 21. No abstract available.

PMID:
23787394
[PubMed - indexed for MEDLINE]
4.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Review.

PMID:
23533028
[PubMed - indexed for MEDLINE]
5.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
[PubMed - in process]
6.

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.

Zachariadis V, Schoumans J, Barbany G, Heyman M, Forestier E, Johansson B, Nordenskjöld M, Nordgren A.

Br J Haematol. 2012 Nov;159(4):488-91. doi: 10.1111/bjh.12051. Epub 2012 Sep 21. No abstract available.

PMID:
22994152
[PubMed - indexed for MEDLINE]
7.

Genome-wide arrays in routine diagnostics of hematological malignancies.

Simons A, Sikkema-Raddatz B, de Leeuw N, Konrad NC, Hastings RJ, Schoumans J.

Hum Mutat. 2012 Jun;33(6):941-8. doi: 10.1002/humu.22057. Epub 2012 Apr 9. Review.

PMID:
22488943
[PubMed - indexed for MEDLINE]
8.

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language.

Anthoni H, Sucheston LE, Lewis BA, Tapia-Páez I, Fan X, Zucchelli M, Taipale M, Stein CM, Hokkanen ME, Castrén E, Pennington BF, Smith SD, Olson RK, Tomblin JB, Schulte-Körne G, Nöthen M, Schumacher J, Müller-Myhsok B, Hoffmann P, Gilger JW, Hynd GW, Nopola-Hemmi J, Leppanen PH, Lyytinen H, Schoumans J, Nordenskjöld M, Spencer J, Stanic D, Boon WC, Simpson E, Mäkelä S, Gustafsson JÅ, Peyrard-Janvid M, Iyengar S, Kere J.

Behav Genet. 2012 Jul;42(4):509-27. doi: 10.1007/s10519-012-9532-3. Epub 2012 Mar 17.

PMID:
22426781
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Interpretation of array comparative genome hybridization data: a major challenge.

Gijsbers AC, Schoumans J, Ruivenkamp CA.

Cytogenet Genome Res. 2011;135(3-4):222-7. doi: 10.1159/000334066. Epub 2011 Nov 12. Review.

PMID:
22086107
[PubMed - indexed for MEDLINE]
10.

Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.

Thonberg H, Fallström M, Björkström J, Schoumans J, Nennesmo I, Graff C.

BMC Res Notes. 2011 Nov 1;4:476. doi: 10.1186/1756-0500-4-476.

PMID:
22044463
[PubMed]
Free PMC Article
11.

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142. Epub 2010 Dec 8.

PMID:
21302340
[PubMed - indexed for MEDLINE]
12.

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.

Zachariadis V, Gauffin F, Kuchinskaya E, Heyman M, Schoumans J, Blennow E, Gustafsson B, Barbany G, Golovleva I, Ehrencrona H, Cavelier L, Palmqvist L, Lönnerholm G, Nordenskjöld M, Johansson B, Forestier E, Nordgren A; Nordic Society of Pediatric Hematology, Oncology (NOPHO); Swedish Cytogenetic Leukemia Study Group (SCLSG).

Leukemia. 2011 Apr;25(4):622-8. doi: 10.1038/leu.2010.318. Epub 2011 Jan 18.

PMID:
21242996
[PubMed - indexed for MEDLINE]
13.

[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].

Anderlid BM, Blennow E, Giacobini M, Nordgren A, Wincent J, Schoumans J, Nordenskjöld M.

Lakartidningen. 2010 Apr 28-May 4;107(17):1144-9. Review. Swedish. No abstract available.

PMID:
20518381
[PubMed - indexed for MEDLINE]
14.

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

Wincent J, Anderlid BM, Lagerberg M, Nordenskjöld M, Schoumans J.

Clin Genet. 2011 Feb;79(2):147-57. doi: 10.1111/j.1399-0004.2010.01442.x.

PMID:
20486943
[PubMed - indexed for MEDLINE]
15.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
[PubMed - indexed for MEDLINE]
16.

Molecular and clinical characterization of patients with overlapping 10p deletions.

Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E.

Am J Med Genet A. 2010 May;152A(5):1233-43. doi: 10.1002/ajmg.a.33366.

PMID:
20425828
[PubMed - indexed for MEDLINE]
17.

Laboratory methods for the detection of chromosomal abnormalities.

Schoumans J, Ruivenkamp C.

Methods Mol Biol. 2010;628:53-73. doi: 10.1007/978-1-60327-367-1_4.

PMID:
20238076
[PubMed - indexed for MEDLINE]
18.

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E.

Clin Genet. 2010 Jun;77(6):552-62. doi: 10.1111/j.1399-0004.2009.01341.x. Epub 2010 Mar 4.

PMID:
20236111
[PubMed - indexed for MEDLINE]
19.

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.

Eur J Med Genet. 2010 Mar-Apr;53(2):61-5. doi: 10.1016/j.ejmg.2009.11.004. Epub 2010 Jan 4.

PMID:
20045748
[PubMed - indexed for MEDLINE]
20.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J.

Mol Syndromol. 2010;1(5):246-254. Epub 2011 May 18.

PMID:
22140377
[PubMed]
Free PMC Article

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