Margo Whiteford

Margo Whiteford

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Margo Whiteford

Margo Whiteford

Publications by authors named "Margo Whiteford"

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30Publications

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Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.

Clin Dysmorphol 2017 Oct;26(4):238-242

aWest of Scotland Regional Genetics Service, Laboratory Medicine Building bDepartment of Neurosurgery, Queen Elizabeth University Hospital cDepartment of Paediatric Radiology, Royal Hospital for Children, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000187DOI Listing
October 2017

Clinical features and respiratory complications in Myhre syndrome.

Eur J Med Genet 2011 Nov-Dec;54(6):e553-9. Epub 2011 Jul 21.

Ferguson-Smith Dept. of Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1016/j.ejmg.2011.07.001DOI Listing
January 2012

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.

J Bone Miner Metab 2011 Sep 25;29(5):621-5. Epub 2011 Feb 25.

Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1007/s00774-011-0260-1DOI Listing
September 2011

Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?

Clin Dysmorphol 2011 Apr;20(2):89-91

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283428f60DOI Listing
April 2011

Novel features in auriculo-condylar syndrome.

Clin Dysmorphol 2011 Jan;20(1):1-10

Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833e56f5DOI Listing
January 2011

The phenotype of Floating-Harbor syndrome in 10 patients.

Am J Med Genet A 2010 Apr;152A(4):821-9

Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33294DOI Listing
April 2010

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Am J Med Genet A 2009 Aug;149A(8):1860-81

Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK.

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http://dx.doi.org/10.1002/ajmg.a.32708DOI Listing
August 2009

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Am J Med Genet A 2004 Aug;129A(1):69-72

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30071
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http://dx.doi.org/10.1002/ajmg.a.30071DOI Listing
August 2004

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

Clin Dysmorphol 2003 Oct;12(4):215-20

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ.

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http://dx.doi.org/10.1097/00019605-200310000-00001DOI Listing
October 2003