Andrew O M Wilkie

Andrew O M Wilkie

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Andrew O M Wilkie

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The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.

Hum Reprod 2019 Aug;34(8):1404-1415

Clinical Genetics Group, MRC-Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1093/humrep/dez090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688873PMC
August 2019

amplimap: a versatile tool to process and analyze targeted NGS data.

Bioinformatics 2019 Jul 26. Epub 2019 Jul 26.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1093/bioinformatics/btz582DOI Listing
July 2019

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Hum Mutat 2018 10 7;39(10):1360-1365. Epub 2018 Aug 7.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/humu.23598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480PMC
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

The Drosophila homologue of MEGF8 is essential for early development.

Sci Rep 2018 06 8;8(1):8790. Epub 2018 Jun 8.

MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DS, UK.

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http://www.nature.com/articles/s41598-018-27076-y
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http://dx.doi.org/10.1038/s41598-018-27076-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993795PMC
June 2018

Clinical genetics of craniosynostosis.

Curr Opin Pediatr 2017 12;29(6):622-628

aClinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital bOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre cCraniofacial Unit, John Radcliffe Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1097/MOP.0000000000000542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681249PMC
December 2017

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.

Prenat Diagn 2017 09 1;37(9):946-948. Epub 2017 Aug 1.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638092PMC
September 2017

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Am J Med Genet A 2017 Jun 6;173(6):1586-1592. Epub 2017 Apr 6.

Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.

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http://dx.doi.org/10.1002/ajmg.a.38232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933242PMC
June 2017

Many faces of SMCHD1.

Nat Genet 2017 Jan;49(2):176-178

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://www.nature.com/articles/ng.3776
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http://dx.doi.org/10.1038/ng.3776DOI Listing
January 2017

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

Proc Natl Acad Sci U S A 2016 Mar 8;113(9):2454-9. Epub 2016 Feb 8.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1521325113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780627PMC
March 2016

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

New insights into craniofacial malformations.

Hum Mol Genet 2015 Oct 17;24(R1):R50-9. Epub 2015 Jun 17.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/hmg/ddv228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571997PMC
October 2015

A Genetic-Pathophysiological Framework for Craniosynostosis.

Am J Hum Genet 2015 Sep;97(3):359-77

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564941PMC
September 2015

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Am J Med Genet A 2015 Aug 13;167A(8):1897-901. Epub 2015 Apr 13.

Centre de génétique humaine, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1002/ajmg.a.37083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244PMC
August 2015

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

J Med Genet 2014 Nov 16;51(11):737-47. Epub 2014 Sep 16.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK NIHR Biomedical Research Centre, Oxford, UK Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269PMC
November 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

BMC Med Genet 2012 Nov 9;13:104. Epub 2012 Nov 9.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1186/1471-2350-13-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3532175PMC
November 2012

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Cleft Palate Craniofac J 2012 May 25;49(3):373-7. Epub 2011 Nov 25.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1597/11-185DOI Listing
May 2012

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

Am J Hum Genet 2012 Feb;90(2):175-200

Weatherall Institute of Molecular Medicine, University of Oxford, UK.

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http://dx.doi.org/10.1016/j.ajhg.2011.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276674PMC
February 2012

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

BMC Med Genet 2011 Sep 23;12:122. Epub 2011 Sep 23.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-12-122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192734PMC
September 2011

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Hum Mutat 2011 Aug 12;32(8):930-8. Epub 2011 Jul 12.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877PMC
August 2011

Craniosynostosis.

Eur J Hum Genet 2011 Apr 19;19(4):369-76. Epub 2011 Jan 19.

Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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http://www.nature.com/articles/ejhg2010235
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http://dx.doi.org/10.1038/ejhg.2010.235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060331PMC
April 2011

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation.

Hum Mutat 2011 Mar;32(3)

University of Oxford, UK.

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http://dx.doi.org/10.1002/humu.21487DOI Listing
March 2011

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

J Med Genet 2010 Dec 15;47(12):803-8. Epub 2009 Sep 15.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1136/jmg.2009.069617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991042PMC
December 2010

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Pediatrics 2010 Aug 19;126(2):e391-400. Epub 2010 Jul 19.

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

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http://dx.doi.org/10.1542/peds.2009-3491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535761PMC
August 2010

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Am J Med Genet A 2010 Jun;152A(6):1383-9

Department of Clinical Genetics, The Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33435DOI Listing
June 2010

Toward a cellular model of microvillus inclusion disease.

Hum Mutat 2010 May;31(5)

Oxford University, UK.

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http://dx.doi.org/10.1002/humu.21263DOI Listing
May 2010

Pitfalls in the phylogenomic evaluation of human disease-causing mutations.

J Biol 2009 24;8(3):26. Epub 2009 Mar 24.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1186/jbiol127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689431PMC
October 2009

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Plast Reconstr Surg 2009 Jun;123(6):1801-10

Oxford Craniofacial Unit and the Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3181a3f391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719244PMC
June 2009

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Dev Dyn 2009 Feb;238(2):331-42

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.21790DOI Listing
February 2009

Hearing loss in a mouse model of Muenke syndrome.

Hum Mol Genet 2009 Jan 25;18(1):43-50. Epub 2008 Sep 25.

Department of Human Genetics, University of Utah, Salt Lake City, UT 84112-5330, USA.

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http://dx.doi.org/10.1093/hmg/ddn311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644644PMC
January 2009

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.

Mech Dev 2008 May-Jun;125(5-6):517-26. Epub 2008 Jan 11.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

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http://dx.doi.org/10.1016/j.mod.2008.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2428104PMC
August 2008

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Hum Mol Genet 2008 Aug 7;17(16):2417-23. Epub 2008 May 7.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/hmg/ddn141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486440PMC
August 2008

Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis.

Plast Reconstr Surg 2008 Jul;122(1):217-24

Oxford Craniofacial Unit and the Department of Plastic and Reconstructive Surgery, West Wing, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3181774240DOI Listing
July 2008

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

Am J Med Genet A 2007 Dec;143A(24):3150-60

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.32097DOI Listing
December 2007

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Hum Genet 2007 Sep 14;122(2):191-9. Epub 2007 Jun 14.

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

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http://dx.doi.org/10.1007/s00439-007-0390-7DOI Listing
September 2007

Cancer drugs to treat birth defects.

Nat Genet 2007 Sep;39(9):1057-9

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http://dx.doi.org/10.1038/ng0907-1057DOI Listing
September 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2007 Aug;143A(16):1941-9

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

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http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

Genetic aspects of birth defects: new understandings of old problems.

Arch Dis Child Fetal Neonatal Ed 2007 Jul;92(4):F308-14

Department of Clinical Genetics, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/adc.2004.062968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675440PMC
July 2007

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.

Am J Med Genet A 2007 Feb;143(4):355-9

GenoMed-Instituto de Medicina Molecular, Edificio Egas Moniz, Lisboa, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.31556DOI Listing
February 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2006 Dec;140(23):2631-9

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

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http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Eur J Hum Genet 2006 Jul 26;14(7):884-7. Epub 2006 Apr 26.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201633DOI Listing
July 2006

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Eur J Hum Genet 2006 May;14(5):549-54

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/sj.ejhg.5201586DOI Listing
May 2006

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Hum Mol Genet 2006 Apr 15;15(8):1319-28. Epub 2006 Mar 15.

Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089-0176, USA.

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http://dx.doi.org/10.1093/hmg/ddl052DOI Listing
April 2006

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Cleft Palate Craniofac J 2006 Mar;43(2):148-51

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, Sala 200 CEP 05508-900 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1597/04-206.1DOI Listing
March 2006