Haan E - Search Results

1

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.

Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ. Smith A, et al. Among authors: haan e. Hum Genet. 1991 Mar;86(5):534-6. doi: 10.1007/BF00194651. Hum Genet. 1991. PMID: 2016095

2

Molecular and cytogenetic studies of the Prader-Willi syndrome.

Trent RJ, Volpato F, Smith A, Lindeman R, Wong MK, Warne G, Haan E. Trent RJ, et al. Among authors: haan e. J Med Genet. 1991 Oct;28(10):649-54. doi: 10.1136/jmg.28.10.649. J Med Genet. 1991. PMID: 1682493 Free PMC article.

3

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. Among authors: haan e. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.

4

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Smith A, Marks R, Haan E, Dixon J, Trent RJ. Smith A, et al. Among authors: haan e. J Med Genet. 1997 May;34(5):426-9. doi: 10.1136/jmg.34.5.426. J Med Genet. 1997. PMID: 9152844 Free PMC article.

5

Birth prevalence of Prader-Willi syndrome in Australia.

Smith A, Egan J, Ridley G, Haan E, Montgomery P, Williams K, Elliott E. Smith A, et al. Among authors: haan e. Arch Dis Child. 2003 Mar;88(3):263-4. doi: 10.1136/adc.88.3.263. Arch Dis Child. 2003. PMID: 12598399 Free PMC article.

6

Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

Haan EA, Hull YJ, White S, Cockington R, Charlton P, Callen DF. Haan EA, et al. Am J Med Genet. 1989 Apr;32(4):490-4. doi: 10.1002/ajmg.1320320412. Am J Med Genet. 1989. PMID: 2773990

7

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Laing NG, et al. Among authors: haan ea. Am J Hum Genet. 1992 Mar;50(3):576-83. Am J Hum Genet. 1992. PMID: 1347195 Free PMC article.

8

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

Mulley JC, Gedeon AK, White SJ, Haan EA, Richards RI. Mulley JC, et al. Among authors: haan ea. J Med Genet. 1991 Jul;28(7):448-52. doi: 10.1136/jmg.28.7.448. J Med Genet. 1991. PMID: 1895314 Free PMC article.

9

X-linked myotubular myopathy in a family with three adult survivors.

Yu S, Manson J, White S, Bourne A, Waddy H, Davis M, Haan E. Yu S, et al. Among authors: haan e. Clin Genet. 2003 Aug;64(2):148-52. doi: 10.1034/j.1399-0004.2003.00118.x. Clin Genet. 2003. PMID: 12859411

10

Prader-Willi syndrome: a new study of the Australian Paediatric Surveillance Unit.

Smith A, Haan E, Warne G, Montgomery P, Macmillan J, Elliott E, Williams K. Smith A, et al. Among authors: haan e. J Paediatr Child Health. 1998 Aug;34(4):398-9. J Paediatr Child Health. 1998. PMID: 9727188 No abstract available.

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