Hakonarson H - Search Results

1

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.

Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK. Verdi G, et al. Among authors: hakonarson h. Mol Genet Genomic Med. 2022 Apr;10(4):e1900. doi: 10.1002/mgg3.1900. Epub 2022 Feb 21. Mol Genet Genomic Med. 2022. PMID: 35189041 Free PMC article.

2

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Among authors: hakonarson h. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19100872 Free PMC article.

3

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB. Conlin LK, et al. Among authors: hakonarson h. J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972251

4

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. Li D, et al. Among authors: hakonarson h. Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781753 Free PMC article.

5

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. Bhoj EJ, et al. Among authors: hakonarson h. Am J Med Genet A. 2015 Nov;167A(11):2497-502. doi: 10.1002/ajmg.a.37217. Epub 2015 Jun 25. Am J Med Genet A. 2015. PMID: 26111080

6

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier Vergano S. Ryan KM, et al. Among authors: hakonarson h. Am J Med Genet A. 2016 Feb;170A(2):482-486. doi: 10.1002/ajmg.a.37438. Epub 2015 Oct 15. Am J Med Genet A. 2016. PMID: 26471230

7

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA. Li D, et al. Among authors: hakonarson h. J Clin Endocrinol Metab. 2016 May;101(5):2196-200. doi: 10.1210/jc.2016-1211. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963954 Free PMC article.

8

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. Bhoj EJ, et al. Among authors: hakonarson h. Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040691 Free PMC article.

9

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H. Li D, et al. Among authors: hakonarson h. Case Rep Genet. 2016;2016:4140780. doi: 10.1155/2016/4140780. Epub 2016 Mar 16. Case Rep Genet. 2016. PMID: 27069701 Free PMC article.

10

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. Zarate YA, et al. Among authors: hakonarson h. Am J Med Genet A. 2016 Aug;170(8):1967-73. doi: 10.1002/ajmg.a.37722. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264197 Free PMC article. Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,064 results

Search Page

Filters