Wesby-van Swaay E - Search Results

1

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.

Los FJ, van Opstal D, van den Berg C, Braat AP, Verhoef S, Wesby-van Swaay E, van den Ouweland AM, Halley DJ. Los FJ, et al. Among authors: wesby van swaay e. Prenat Diagn. 1998 Jul;18(7):659-68. Prenat Diagn. 1998. PMID: 9706646

2

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079

3

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

de Vries BB, Fryns JP, Butler MG, Canziani F, Wesby-van Swaay E, van Hemel JO, Oostra BA, Halley DJ, Niermeijer MF. de Vries BB, et al. J Med Genet. 1993 Sep;30(9):761-6. doi: 10.1136/jmg.30.9.761. J Med Genet. 1993. PMID: 8411072 Free PMC article.

4

The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.

Halley DJ, Veeze HJ, Sandkuyl LA, Wesby-van Swaay E, van Damme NH, Deelen WH, Witte JE, Niermeijer MF. Halley DJ, et al. Hum Genet. 1990 Sep;85(4):407-8. doi: 10.1007/BF02428281. Hum Genet. 1990. PMID: 2210750

5

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

De Rijk-van Andel JF, Catsman-Berrevoets CE, Halley DJ, Wesby-van Swaay E, Niermeijer MF, Oostra BA. De Rijk-van Andel JF, et al. Hum Genet. 1991 Aug;87(4):509-10. doi: 10.1007/BF00197179. Hum Genet. 1991. PMID: 1879837

6

Avoidance of emergency surgery in newborn infants with trisomy 18.

Bos AP, Broers CJ, Hazebroek FW, van Hemel JO, Tibboel D, Wesby-van Swaay E, Molenaar JC. Bos AP, et al. Lancet. 1992 Apr 11;339(8798):913-5. doi: 10.1016/0140-6736(92)90940-5. Lancet. 1992. PMID: 1348308

7

Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Van Hemel JO, Eussen B, Wesby-van Swaay E, Oostra BA. Van Hemel JO, et al. Hum Genet. 1992 Mar;88(6):661-7. doi: 10.1007/BF02265294. Hum Genet. 1992. PMID: 1551671 Review.

8

Analysis of a large family with the second type of autosomal dominant polycystic kidney disease.

Veldhuisen B, Breuning MH, Wesby-van Swaay E, Boersma J, Peters DJ. Veldhuisen B, et al. Among authors: wesby van swaay e. Nephrol Dial Transplant. 1996;11 Suppl 6:13-7. doi: 10.1093/ndt/11.supp6.13. Nephrol Dial Transplant. 1996. PMID: 9044321

9

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: wesby van swaay e. Am J Med Genet. 1996 Jul 12;64(1):131-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<131::AID-AJMG22>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826463 Free article.

10

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: wesby van swaay e. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.

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