Publications by authors named "Angela L Duker"

21Publications

Growth in individuals with Saul-Wilson syndrome.

Am J Med Genet A 2020 Sep 11;182(9):2110-2116. Epub 2020 Jul 11.

Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61754DOI Listing
September 2020

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Am J Med Genet A 2020 03 25;182(3):579-583. Epub 2019 Nov 25.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61413DOI Listing
March 2020

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

J Pediatr Orthop 2019 Oct;39(9):e680-e686

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001014DOI Listing
October 2019

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Qual Life Res 2019 Jun 14;28(6):1457-1464. Epub 2019 Jan 14.

Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11136-019-02102-2DOI Listing
June 2019

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Am J Med Genet A 2018 02 19;176(2):465-469. Epub 2017 Dec 19.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774248PMC
February 2018

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Am J Med Genet A 2017 Dec 28;173(12):3205-3210. Epub 2017 Oct 28.

Division of Medical Genetics, Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687301PMC
December 2017

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.

Am J Med Genet A 2017 11 22;173(11):3067-3069. Epub 2017 Sep 22.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38467DOI Listing
November 2017

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2017 Jan 12;173(1):108-113. Epub 2016 Sep 12.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37961DOI Listing
January 2017

Metatropic dysplasia is associated with increased fracture risk.

Am J Med Genet A 2016 May 29;170A(5):1373-6. Epub 2016 Jan 29.

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37576DOI Listing
May 2016

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2016 Jan 26;170A(1):270-2. Epub 2015 Sep 26.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37404DOI Listing
January 2016

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E355-9. Epub 2014 Nov 11.

Nemours Children's Clinic (R.C.O.), Jacksonville, Florida 32207; University of Otago (T.C.R.P., E.A.E.), Christchurch 8011, New Zealand; Nemours/Alfred I. duPont Hospital for Children (W.G.M., A.L.D., C.D., M.B.B.), Wilmington, Delaware 19803; University Hospital Freiburg (B.Z.), 79106 Freiburg, Germany; Keio University School of Medicine (T.H.), Tokyo 108-8345, Japan; Nagoya University School of Medicine (H.K.), Nagoya 464-8601, Japan; and University of North Carolina (A.S.A.), Chapel Hill, North Carolina 27599-2100.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-2814DOI Listing
February 2015

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Am J Med Genet A 2012 Nov 20;158A(11):2719-25. Epub 2012 Jul 20.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35447DOI Listing
November 2012