Lesley C Adès

Lesley C Adès

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Lesley C Adès

Lesley C Adès

Publications by authors named "Lesley C Adès"

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28Publications

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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.

J Clin Immunol 2018 04 9;38(3):234-236. Epub 2018 Mar 9.

Discipline of Child and Adolescent Health, University of Sydney, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10875-018-0484-0DOI Listing
April 2018

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Am J Med Genet A 2017 Aug 2;173(8):2246-2250. Epub 2017 Jun 2.

Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38292DOI Listing
August 2017

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome.

Heart Lung Circ 2017 Jun 24;26(6):536-544. Epub 2016 Dec 24.

Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.hlc.2016.10.023DOI Listing
June 2017

Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

Authors:
Lesley C Adès

Clin Dysmorphol 2008 Oct;17(4):243-8

Department of Clinical Genetics Marfan Research Group, The Children's Hospital at Westmead Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e328303e5d3DOI Listing
October 2008

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Hum Genet 2008 Jun 11;123(5):469-76. Epub 2008 Apr 11.

McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1007/s00439-008-0498-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714970PMC
June 2008

Deletion 22q11.2 syndrome--implications for the intensive care physician.

Pediatr Crit Care Med 2007 Sep;8(5):459-63; quiz 464

Paediatric Intensive Care Unit, The Children's Hospital at Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1097/01.pcc.0000290023.89437.58DOI Listing
September 2007

Out of captivity.

Authors:
Lesley C Adès

Med J Aust 2004 Dec 6-20;181(11-12):628-30

Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW.

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March 2005

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Am J Med Genet A 2005 Feb;132A(4):381-5

Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30274DOI Listing
February 2005

Primary trabeculodysgenesis in association with neonatal Marfan syndrome.

Am J Med Genet A 2004 Aug;128A(4):418-21

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

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http://dx.doi.org/10.1002/ajmg.a.30139DOI Listing
August 2004

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

Clin Dysmorphol 2004 Jul;13(3):173-7

Department of Clinical Genetics, The Western Sydney Genetics Program, The Children's Hospital at Westmead, Randwick NSW, Sydney, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000115200.74297.cfDOI Listing
July 2004

Ectopia lentis phenotypes and the FBN1 gene.

Am J Med Genet A 2004 Apr;126A(3):284-9

Marfan Research Group, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20605DOI Listing
April 2004

A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.

Clin Dysmorphol 2003 Jul;12(3):179-81

Department of Clinical Genetics, The Children's Hospital at Westmead, NSW, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000072162.33788.8dDOI Listing
July 2003

Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.

Am J Med Genet 2002 May;109(4):261-70

Marfan Research Group, Department of Clinical Genetics, The Children's Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia.

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http://dx.doi.org/10.1002/ajmg.10333DOI Listing
May 2002