Alexa M J Kidd

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Publications by authors named "Alexa M J Kidd"

3Publications

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1PubMed Central Citations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:

Jennifer J Johnston Julie C Sapp Joyce T Turner David Amor Salim Aftimos Kyrieckos A Aleck Maureen Bocian Joann N Bodurtha Gerald F Cox Cynthia J Curry Ruth Day Dian Donnai Michael Field Ikuma Fujiwara Michael Gabbett Moran Gal John M Graham Peter Hedera Raoul C M Hennekam Joseph H Hersh Robert J Hopkin Hülya Kayserili Alexa M J Kidd Virginia Kimonis Angela E Lin Sally Ann Lynch Melissa Maisenbacher Sahar Mansour Julie McGaughran Lakshmi Mehta Helen Murphy Margarita Raygada Nathaniel H Robin Alan F Rope Kenneth N Rosenbaum G Bradley Schaefer Amy Shealy Wendy Smith Maria Soller Annmarie Sommer Heather J Stalker Bernhard Steiner Mark J Stephan David Tilstra Susan Tomkins Pamela Trapane Anne Chun-Hui Tsai Margot I Van Allen Pradeep C Vasudevan Bernhard Zabel Janice Zunich Graeme C M Black Leslie G Biesecker

Hum Mutat 2010 Oct;31(10):1142-54

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/humu.21328	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947617	PMC

October 2010

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Authors:

Stephen R F Twigg Kazuya Matsumoto Alexa M J Kidd Anne Goriely Indira B Taylor Richard B Fisher A Jeannette M Hoogeboom Irene M J Mathijssen M Teresa Lourenco Jenny E V Morton Elizabeth Sweeney Louise C Wilson Han G Brunner John B Mulliken Steven A Wall Andrew O M Wilkie

Am J Hum Genet 2006 Jun 28;78(6):999-1010. Epub 2006 Apr 28.

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763921	Publisher Site
http://dx.doi.org/10.1086/504440	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474108	PMC

June 2006

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.

Authors:

Vip Viprakasit Alexa M J Kidd Helena Ayyub Sharon Horsley Jim Hughes Douglas R Higgs

Br J Haematol 2003 Mar;120(5):867-75

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04197.x	DOI Listing

March 2003