Michael F Buckley

Michael F Buckley

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Michael F Buckley

Michael F Buckley

Publications by authors named "Michael F Buckley"

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Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Am J Med Genet A 2019 Oct 19;179(10):2152-2157. Epub 2019 Jul 19.

Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61295DOI Listing
October 2019

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Mol Genet Metab 2015 Nov 14;116(3):178-86. Epub 2015 Aug 14.

Sydney Children's Hospital, High Street Randwick NSW 2031, Australia; University of New South Wales, High Street, Sydney, NSW 2052, Australia; Seals Molecular Genetics, POW Hospital Campus, Barker Street, Randwick, Sydney, NSW 2031, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
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http://dx.doi.org/10.1016/j.ymgme.2015.08.007DOI Listing
November 2015

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.

FEBS Lett 2012 May 20;586(10):1516-21. Epub 2012 Apr 20.

Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1016/j.febslet.2012.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372856PMC
May 2012

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

J Paediatr Child Health 2011 Oct 30;47(10):711-6. Epub 2011 Mar 30.

The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02038.xDOI Listing
October 2011

A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss.

Genet Med 2011 Jan;13(1):46-51

Department of Haematology and Genetics, South Eastern Area Laboratory Services, The Prince of Wales and Sydney Children's hospitals, Randwick, Sydney, Australia.

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http://dx.doi.org/10.1097/GIM.0b013e3181faa0d2DOI Listing
January 2011

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

PLoS One 2010 Jan 20;5(1):e8803. Epub 2010 Jan 20.

Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008803PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808359PMC
January 2010

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.

Clin Dysmorphol 2008 Jul;17(3):223-4

Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86DOI Listing
July 2008

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

Clin Dysmorphol 2006 Apr;15(2):89-93

Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000194407.92676.9dDOI Listing
April 2006

Quantitative trait loci for steady-state platelet count in mice.

Mamm Genome 2004 Oct;15(10):784-97

Centre for Vascular Research, University of New South Wales, Kensington 2052, Sydney, Australia.

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http://dx.doi.org/10.1007/s00335-004-2408-yDOI Listing
October 2004

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

Am J Med Genet A 2004 Jan;124A(2):136-41

Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20348DOI Listing
January 2004

In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.

Aust N Z J Obstet Gynaecol 2002 Feb;42(1):79-82

Department of Medical Imaging and Feto-maternal Medicine, Royal Hospital For Women, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.0004-8666.2002.00085.xDOI Listing
February 2002