De Pater J - Search Results

1

A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.

Van den Boogaard MJ, De Pater J, Hennekam RC. Van den Boogaard MJ, et al. Among authors: de pater j. Genet Couns. 1991;2(2):83-91. Genet Couns. 1991. PMID: 1781959

2

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.

van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC. van Balkom ID, et al. Among authors: de pater jm. Genet Couns. 1992;3(2):83-9. Genet Couns. 1992. PMID: 1642815 Review.

3

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: de pater jm. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.

4

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.

Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM. Ausems MG, et al. Among authors: de pater jm. Genet Couns. 2004;15(4):405-10. Genet Couns. 2004. PMID: 15658615

5

Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p.

De Pater JM, Van Tintelen JP, Stigter R, Brouwers HA, Scheres JM. De Pater JM, et al. Genet Couns. 2000;11(3):241-7. Genet Couns. 2000. PMID: 11043432

6

Interstitial deletion 11q. Case report and review of the literature.

De Pater JM, Ippel PF, Bijlsma JB, Van Nieuwenhuizen O. De Pater JM, et al. Genet Couns. 1997;8(4):335-9. Genet Couns. 1997. PMID: 9457504 Review.

7

Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH.

de Pater JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJ. de Pater JM, et al. Clin Genet. 2002 Dec;62(6):482-7. doi: 10.1034/j.1399-0004.2002.620611.x. Clin Genet. 2002. PMID: 12485198

8

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A. Smeets D, et al. Among authors: de pater j. J Med Genet. 1997 Jan;34(1):18-23. doi: 10.1136/jmg.34.1.18. J Med Genet. 1997. PMID: 9032644 Free PMC article.

9

A male carrier for Duchenne muscular dystrophy.

Hennekam RC, Veenema H, Bakker E, Jennekens FG, Te Velde ER, de Pater J. Hennekam RC, et al. Among authors: de pater j. Am J Hum Genet. 1989 Apr;44(4):591-2. Am J Hum Genet. 1989. PMID: 2929600 Free PMC article. No abstract available.

10

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

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