de Pater JM - Search Results

1

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.

de Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P, Leschot NJ. de Pater JM, et al. Prenat Diagn. 1997 Jan;17(1):81-6. doi: 10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co;2-v. Prenat Diagn. 1997. PMID: 9021833

2

Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization.

van Zelderen-Bhola SL, Breslau-Siderius EJ, Beverstock GC, Stolte-Dijkstra I, de Vries LS, Stoutenbeek P, de Pater JM. van Zelderen-Bhola SL, et al. Among authors: de pater jm, de vries ls. Prenat Diagn. 1997 Feb;17(2):173-9. doi: 10.1002/(sici)1097-0223(199702)17:2<173::aid-pd30>3.0.co;2-v. Prenat Diagn. 1997. PMID: 9061768

3

Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12).

de Pater JM, Scheres JM, Christiaens GC, Ausems MG. de Pater JM, et al. Prenat Diagn. 2003 Jan;23(1):65-7. doi: 10.1002/pd.514. Prenat Diagn. 2003. PMID: 12533816

4

Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques.

de Pater JM, Govaerts LC, de Man SA, van der Sijs-Bos CJ, Christiaens GC, van Dam WM, Loneus WH, Engelen JJ. de Pater JM, et al. Prenat Diagn. 2003 Sep;23(9):747-51. doi: 10.1002/pd.653. Prenat Diagn. 2003. PMID: 12975787

5

Trisomy 8 in chorionic villi-unpredictable results in follow-up.

de Pater JM, Schuring-Blom GH, Nieste-Otter MA, van Nesselrooij B, Kapitein B, Christiaens GC, Leschot NJ. de Pater JM, et al. Prenat Diagn. 2000 May;20(5):435-7. doi: 10.1002/(sici)1097-0223(200005)20:5<435::aid-pd823>3.0.co;2-q. Prenat Diagn. 2000. PMID: 10820417 No abstract available.

6

Isochromosome 1q as the sole chromosomal abnormality in two fetal teratomas. Possible trisomic or tetrasomic zygote rescue in fetal teratoma with an additional isochromosome 1q.

Scheres JM, de Pater JM, Stoutenbeek P, Wijmenga C, Rosenberg C, Pearson PL. Scheres JM, et al. Among authors: de pater jm. Cancer Genet Cytogenet. 1999 Nov;115(1):1-10. doi: 10.1016/s0165-4608(99)00049-7. Cancer Genet Cytogenet. 1999. PMID: 10565292

7

First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome.

Christiaens GC, de Pater JM, Stoutenbeek P, Drogtrop A, Wanders RJ, Beemer FA. Christiaens GC, et al. Among authors: de pater jm. Prenat Diagn. 2000 Jun;20(6):520-1. Prenat Diagn. 2000. PMID: 10861722 No abstract available.

8

Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.

de Pater JM, Nikkels PG, Poot M, Eleveld MJ, Stigter RH, van der Sijs-Bos CJ, Loneus WH, Engelen JJ. de Pater JM, et al. Pediatr Dev Pathol. 2005 Jul-Aug;8(4):497-503. doi: 10.1007/s10024-005-0041-8. Epub 2005 Oct 12. Pediatr Dev Pathol. 2005. PMID: 16222479

9

Comparative genomic hybridization for cytogenetic evaluation of stillbirth.

Christiaens GC, Vissers J, Poddighe PJ, de Pater JM. Christiaens GC, et al. Among authors: de pater jm. Obstet Gynecol. 2000 Aug;96(2):281-6. doi: 10.1016/s0029-7844(00)00879-6. Obstet Gynecol. 2000. PMID: 10908778

10

Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.

de Pater J, Van der Sijs-Bos C, Prins M, Derks J, Albrechts J, Engelen J. de Pater J, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):306-12. doi: 10.1016/j.ejmg.2005.12.006. Epub 2006 Jan 19. Eur J Med Genet. 2006. PMID: 16461028

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