PubMed

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

Burkitt Wright EM, Perveen R, Clayton PE, Hall CM, Costa T, Procter AM, Giblin CA, Donnai D, Black GC.

Clin Dysmorphol. 2009 Oct;18(4):218-21. No abstract available. PMID: 19654509 [PubMed - indexed for MEDLINE]Related articles

Advances in dysmorphology: from diagnosis to treatment.

Donnai D.

Clin Med. 2009 Apr;9(2):154-5. No abstract available. PMID: 19435124 [PubMed - in process]Related articles

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.

J Med Genet. 2009 Jun;46(6):389-98. Epub 2009 Apr 2.PMID: 19346217 [PubMed - indexed for MEDLINE]Related articles

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP.

Nat Genet. 2009 Jan;41(1):95-100. Epub 2008 Dec 14.PMID: 19079258 [PubMed - indexed for MEDLINE]Related articles

Complementation in a 45,X/47,XX,+14 patient?

Donnai D, Clayton-Smith J, Baraitser M.

Clin Dysmorphol. 2008 Oct;17(4):291. No abstract available. PMID: 18978664 [PubMed - indexed for MEDLINE]Related articles

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.

Eur J Hum Genet. 2009 Apr;17(4):434-43. Epub 2008 Oct 15.PMID: 18854860 [PubMed - indexed for MEDLINE]Related articles

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.

Clin Genet. 2008 Nov;74(5):434-44. Epub 2008 Sep 16.PMID: 18798845 [PubMed - indexed for MEDLINE]Related articles

What process attributes of clinical genetics services could maximise patient benefits?

McAllister M, Payne K, Macleod R, Nicholls S, Donnai D, Davies L.

Eur J Hum Genet. 2008 Dec;16(12):1467-76. Epub 2008 Jul 2.PMID: 18596695 [PubMed - indexed for MEDLINE]Related articlesFree article

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7.PMID: 18553518 [PubMed - indexed for MEDLINE]Related articles

A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

Smith A, Leask K, Tomlin P, Donnai D.

Clin Dysmorphol. 2008 Jul;17(3):161-4.PMID: 18541960 [PubMed - indexed for MEDLINE]Related articles

Outcome measurement in clinical genetics services: a systematic review of validated measures.

Payne K, Nicholls S, McAllister M, Macleod R, Donnai D, Davies LM.

Value Health. 2008 May-Jun;11(3):497-508. Review.PMID: 18489673 [PubMed - indexed for MEDLINE]Related articles

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27.PMID: 18425797 [PubMed - indexed for MEDLINE]Related articles

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC.

Am J Hum Genet. 2008 Apr;82(4):916-26. Epub 2008 Mar 27. Erratum in: Am J Hum Genet. 2008 Apr;82(4):1019. PMID: 18374296 [PubMed - indexed for MEDLINE]Related articlesFree article

The emotional effects of genetic diseases: implications for clinical genetics.

McAllister M, Davies L, Payne K, Nicholls S, Donnai D, MacLeod R.

Am J Med Genet A. 2007 Nov 15;143A(22):2651-61.PMID: 17937446 [PubMed - indexed for MEDLINE]Related articles

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.PMID: 17632512 [PubMed - indexed for MEDLINE]Related articles

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO.

Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18. Erratum in: Am J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova, Dragana]. PMID: 17503333 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC.

Hum Mutat. 2007 Oct;28(10):968-77.PMID: 17492639 [PubMed - indexed for MEDLINE]Related articles

Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' views.

Payne K, Nicholls SG, McAllister M, MacLeod R, Ellis I, Donnai D, Davies LM.

Health Policy. 2007 Nov;84(1):112-22. Epub 2007 May 7.PMID: 17485130 [PubMed - indexed for MEDLINE]Related articles

Dysmorphology demystified.

Reardon W, Donnai D.

Arch Dis Child Fetal Neonatal Ed. 2007 May;92(3):F225-9. Review. No abstract available. PMID: 17449858 [PubMed - indexed for MEDLINE]Related articles

Robert J Gorlin DDS, MS (1923-2006): A Geneticist for all Countries.

Donnai D.

J Med Genet. 2007 Apr 5. [Epub ahead of print]PMID: 17412878 [PubMed - as supplied by publisher]Related articles

Improving service evaluation in clinical genetics: identifying effects of genetic diseases on individuals and families.

McAllister M, Payne K, Nicholls S, MacLeod R, Donnai D, Davies LM.

J Genet Couns. 2007 Feb;16(1):71-83. Epub 2007 Feb 13.PMID: 17295055 [PubMed - indexed for MEDLINE]Related articles

Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development.

Tassabehji M, Donnai D.

Eur J Hum Genet. 2006 May;14(5):507-8. No abstract available. PMID: 16523213 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G.

J Med Genet. 2006 May;43(5):401-5. Epub 2006 Jan 27.PMID: 16443854 [PubMed - indexed for MEDLINE]Related articlesFree article

Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M.

Am J Hum Genet. 2005 Dec;77(6):999-1010. Epub 2005 Oct 26.PMID: 16380911 [PubMed - indexed for MEDLINE]Related articlesFree article

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D.

Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3.PMID: 16293761 [PubMed - indexed for MEDLINE]Related articlesFree article

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.

J Med Genet. 2006 Apr;43(4):306-14. Epub 2005 Sep 9.PMID: 16155193 [PubMed - indexed for MEDLINE]Related articlesFree article

Kohlschutter syndrome in siblings.

Donnai D, Tomlin PI, Winter RM.

Clin Dysmorphol. 2005 Jul;14(3):123-6.PMID: 15930900 [PubMed - indexed for MEDLINE]Related articles

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL.

Am J Hum Genet. 2005 Jul;77(1):154-60. Epub 2005 May 25.PMID: 15918153 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M.

Clin Dysmorphol. 2005 Apr;14(2):61-5.PMID: 15770126 [PubMed - indexed for MEDLINE]Related articles

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD.

Eur J Hum Genet. 2005 May;13(5):547-55. Review.PMID: 15756302 [PubMed - indexed for MEDLINE]Related articlesFree article

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jan 30;132A(3):273-5.PMID: 15523623 [PubMed - indexed for MEDLINE]Related articles

Filippi syndrome: two cases with ectodermal features, expanding the phenotype.

Sharif S, Donnai D.

Clin Dysmorphol. 2004 Oct;13(4):221-6.PMID: 15365457 [PubMed - indexed for MEDLINE]Related articles

Professor Robin Michael Winter 1950-2004: An appreciation.

Donnai D.

Am J Med Genet A. 2004 Jul 15;128A(2):107-9. No abstract available. PMID: 15213997 [PubMed - indexed for MEDLINE]Related articles

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M.

Eur J Hum Genet. 2004 Jul;12(7):551-60.PMID: 15100712 [PubMed - indexed for MEDLINE]Related articlesFree article

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG.

Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7.PMID: 15004558 [PubMed - indexed for MEDLINE]Related articles

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

Richardson R, Donnai D, Meire F, Dixon MJ.

J Med Genet. 2004 Jan;41(1):60-7. No abstract available. PMID: 14729836 [PubMed - indexed for MEDLINE]Related articlesFree article

How clinicians add to knowledge of development.

Donnai D, Read AP.

Lancet. 2003 Aug 9;362(9382):477-84. Review.PMID: 12927438 [PubMed - indexed for MEDLINE]Related articles

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M.

Am J Med Genet A. 2003 Jun 15;119A(3):257-65.PMID: 12784289 [PubMed - indexed for MEDLINE]Related articles

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M.

Eur J Hum Genet. 2003 Jun;11(6):468-74.PMID: 12774041 [PubMed - indexed for MEDLINE]Related articlesFree article

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC.

Br J Ophthalmol. 2003 May;87(5):646-8. No abstract available. PMID: 12714415 [PubMed - indexed for MEDLINE]Related articlesFree article

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA.

J Am Soc Nephrol. 2003 Mar;14(3):680-9.PMID: 12595504 [PubMed - indexed for MEDLINE]Related articlesFree article

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

Karmiloff-Smith A, Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.

J Med Genet. 2003 Feb;40(2):136-40. No abstract available. PMID: 12566524 [PubMed - indexed for MEDLINE]Related articlesFree article

Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients.

Kerzin-Storrar L, Wright C, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D.

J Med Genet. 2002 Dec;39(12):e85.PMID: 12471223 [PubMed - indexed for MEDLINE]Related articlesFree article

Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics.

Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D.

J Med Genet. 2002 Dec;39(12):e84.PMID: 12471222 [PubMed - indexed for MEDLINE]Related articlesFree article

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

Elson E, Perveen R, Donnai D, Wall S, Black GC.

J Med Genet. 2002 Nov;39(11):804-6.PMID: 12414818 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE.

Hum Genet. 2002 Oct;111(4-5):368-75. Epub 2002 Sep 7.PMID: 12384778 [PubMed - indexed for MEDLINE]Related articles

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M.

Hum Genet. 2002 May;110(5):422-8. Epub 2002 Apr 10.PMID: 12073012 [PubMed - indexed for MEDLINE]Related articles

Sotos syndrome: two cases with severe scoliosis.

Sweeney E, Fryer A, Donnai D.

Clin Dysmorphol. 2002 Apr;11(2):121-4.PMID: 12002142 [PubMed - indexed for MEDLINE]Related articles

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

Cox H, Stewart H, Hall L, Donnai D.

Am J Med Genet. 2002 May 15;109(4):306-10.PMID: 11992485 [PubMed - indexed for MEDLINE]Related articles

Genetic services.

Donnai D.

Clin Genet. 2002 Jan;61(1):1-6. Review.PMID: 11903347 [PubMed - indexed for MEDLINE]Related articles