Donnai D - Search Results

1

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Kant SG, Van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, Van Ommen GJ. Kant SG, et al. Among authors: donnai d. J Med Genet. 1997 Jul;34(7):569-72. doi: 10.1136/jmg.34.7.569. J Med Genet. 1997. PMID: 9222965 Free PMC article.

2

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

McGaughran JM, Gaunt L, Dore J, Petrij F, Dauwerse HG, Donnai D. McGaughran JM, et al. Among authors: donnai d. J Med Genet. 1996 Jan;33(1):82-3. doi: 10.1136/jmg.33.1.82. J Med Genet. 1996. PMID: 8825057 Free PMC article.

3

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W. Fryssira H, et al. Among authors: donnai d. J Med Genet. 1997 Apr;34(4):306-8. doi: 10.1136/jmg.34.4.306. J Med Genet. 1997. PMID: 9138154 Free PMC article.

4

Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.

Cox H, Stewart H, Hall L, Donnai D. Cox H, et al. Among authors: donnai d. Am J Med Genet. 2002 May 15;109(4):306-10. doi: 10.1002/ajmg.10368. Am J Med Genet. 2002. PMID: 11992485

5

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Lacbawan F, et al. Among authors: donnai d. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.

6

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. Among authors: donnai d. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

7

Unbalanced 13;18 translocation and Williams syndrome.

Colley A, Thakker Y, Ward H, Donnai D. Colley A, et al. Among authors: donnai d. J Med Genet. 1992 Jan;29(1):63-5. doi: 10.1136/jmg.29.1.63. J Med Genet. 1992. PMID: 1552549 Free PMC article.

8

De novo ring chromosome 3: a new case with a mild phenotype.

McKinley M, Colley A, Sinclair P, Donnai D, Andrews T. McKinley M, et al. Among authors: donnai d. J Med Genet. 1991 Aug;28(8):536-8. doi: 10.1136/jmg.28.8.536. J Med Genet. 1991. PMID: 1920370 Free PMC article.

9

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Slavotinek A, Gaunt L, Donnai D. Slavotinek A, et al. Among authors: donnai d. J Med Genet. 1997 Oct;34(10):819-26. doi: 10.1136/jmg.34.10.819. J Med Genet. 1997. PMID: 9350814 Free PMC article. Review.

10

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Donnai D, Mountford RC, Read AP. Donnai D, et al. J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73. J Med Genet. 1988. PMID: 3162283 Free PMC article.

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