Hoover-Fong J - Search Results

1

Congenital T cell deficiency in a patient with CHARGE syndrome.

Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Hoover-Fong J, et al. J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049. J Pediatr. 2009. PMID: 19187738 Free PMC article.

2

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.

Hoover-Fong JE, Geraghty MT, Raymond GV, Thomas GH. Hoover-Fong JE, et al. J Inherit Metab Dis. 2001 Jun;24(3):415-6. doi: 10.1023/a:1010581324565. J Inherit Metab Dis. 2001. PMID: 11486911 No abstract available.

3

Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.

Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Hoover-Fong JE, et al. Am J Med Genet A. 2003 Feb 15;117A(1):47-56. doi: 10.1002/ajmg.a.10046. Am J Med Genet A. 2003. PMID: 12548740

4

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Cohn RD, et al. Pediatrics. 2006 Aug;118(2):e514-21. doi: 10.1542/peds.2005-1307. Epub 2006 Jun 30. Pediatrics. 2006. PMID: 16816004

5

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE. Saadeh R, et al. Pediatr Neurol. 2007 Oct;37(4):299-302. doi: 10.1016/j.pediatrneurol.2007.06.024. Pediatr Neurol. 2007. PMID: 17903679 Free PMC article.

6

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.

Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DA, Thomas GH. Mardo V, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2293-7. doi: 10.1002/ajmg.a.32316. Am J Med Genet A. 2008. PMID: 18661548 No abstract available.

7

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Miller ND, et al. Am J Med Genet A. 2009 Feb 15;149A(4):669-80. doi: 10.1002/ajmg.a.32705. Am J Med Genet A. 2009. PMID: 19253379 Free PMC article.

8

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Sobreira NL, et al. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991. PLoS Genet. 2010. PMID: 20577567 Free PMC article.

9

Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Roberson ED, et al. Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8. Eur J Hum Genet. 2011. PMID: 20823914 Free PMC article.

10

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D. Sobreira NL, et al. Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2. Genome Res. 2011. PMID: 21890680 Free PMC article.

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

102 results

Search Page

Filters