Elsea SH - 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: elsea sh. 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

Genetic diagnosis of Down syndrome in an underserved community.

Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH. Sobering AK, et al. Among authors: elsea sh. Am J Med Genet A. 2018 Feb;176(2):483-486. doi: 10.1002/ajmg.a.38573. Epub 2017 Dec 26. Am J Med Genet A. 2018. PMID: 29278455

3

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.

Thompson W, Carey PZ, Donald T, Nelson B, Bhoj EJ, Li D, Hakonarson H, Ramirez M, Elsea SH, Smith JL, Carey JC, Sobering AK. Thompson W, et al. Among authors: elsea sh. Mol Genet Genomic Med. 2020 Aug;8(8):e1318. doi: 10.1002/mgg3.1318. Epub 2020 Jun 8. Mol Genet Genomic Med. 2020. PMID: 32511891 Free PMC article.

4

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. Sobering AK, et al. Among authors: elsea sh. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1030-1041. doi: 10.1002/ajmg.c.31871. Epub 2020 Dec 4. Am J Med Genet C Semin Med Genet. 2020. PMID: 33274544 Free PMC article.

5

Sickle cell disease in Grenada: Quality of life and barriers to care.

Grygiel A, Ikolo F, Stephen R, Bleasdille D, Robbins-Furman P, Nelson B, Sobering AK, Elsea SH. Grygiel A, et al. Among authors: elsea sh. Mol Genet Genomic Med. 2021 Jan;9(1):e1567. doi: 10.1002/mgg3.1567. Epub 2020 Dec 17. Mol Genet Genomic Med. 2021. PMID: 33332776 Free PMC article.

6

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Juyal RC, et al. Among authors: elsea sh. Am J Hum Genet. 1996 May;58(5):998-1007. Am J Hum Genet. 1996. PMID: 8651284 Free PMC article.

7

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.

Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI. Elsea SH, et al. Am J Med Genet. 1998 Jan 6;75(1):104-8. Am J Med Genet. 1998. PMID: 9450867

8

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. Among authors: elsea sh. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

9

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Edelman EA, et al. Among authors: elsea sh. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

10

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Williams SR, et al. Among authors: elsea sh. J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752160

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

192 results

Search Page

Filters