Duker AL - Search Results

1

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Paganini C, et al. Among authors: duker al. Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16. Bone. 2023. PMID: 37454964 Free article.

2

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T. Duker AL, et al. Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30. Eur J Hum Genet. 2010. PMID: 20588305 Free PMC article.

3

'The cost and yield of evaluations for developmental delay/mental retardation'.

Duker AL, Teed LN, Thomas RL, Majkowski ME, Bawle EV. Duker AL, et al. Dev Med Child Neurol. 2008 Oct;50(10):798-9. doi: 10.1111/j.1469-8749.2008.03087.x. Dev Med Child Neurol. 2008. PMID: 18834396 Free article. No abstract available.

4

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

Baratela WA, Bober MB, Tiller GE, Okenfuss E, Ditro C, Duker A, Krakow D, Stabley DL, Sol-Church K, Mackenzie W, Lachman R, Scott CI Jr. Baratela WA, et al. Am J Med Genet A. 2012 Aug;158A(8):1815-22. doi: 10.1002/ajmg.a.35445. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711505 Free PMC article.

5

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

Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP. Bober MB, et al. Among authors: duker al. Am J Med Genet A. 2012 Nov;158A(11):2719-25. doi: 10.1002/ajmg.a.35447. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821869

6

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG. Karatas AF, et al. Among authors: duker al. J Pediatr Orthop. 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183. J Pediatr Orthop. 2014. PMID: 24705347

7

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

Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. Olney RC, et al. Among authors: duker al. J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11. J Clin Endocrinol Metab. 2015. PMID: 25387261

8

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB. Duker AL, et al. Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. Am J Med Genet A. 2016. PMID: 26408048 No abstract available.

9

Metatropic dysplasia is associated with increased fracture risk.

Bober MB, Duker AL, Carney M, Ditro CP, Rogers K, Mackenzie WG. Bober MB, et al. Among authors: duker al. Am J Med Genet A. 2016 May;170A(5):1373-6. doi: 10.1002/ajmg.a.37576. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26823048 No abstract available.

10

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB. Duker AL, et al. Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27616591

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