Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: hefner m. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.
Exclusion of PITX2 mutations as a major cause of CHARGE association.
Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Martin DM, et al. Among authors: hefner ma. Am J Med Genet. 2002 Jul 22;111(1):27-30. doi: 10.1002/ajmg.10473. Am J Med Genet. 2002. PMID: 12124729 Free article.
The spectrum of clinical features in CHARGE syndrome.
Davenport SL, Hefner MA, Mitchell JA. Davenport SL, et al. Among authors: hefner ma. Clin Genet. 1986 Apr;29(4):298-310. doi: 10.1111/j.1399-0004.1986.tb01258.x. Clin Genet. 1986. PMID: 2424647
CHARGE syndrome. Part I. External ear anomalies.
Davenport SL, Hefner MA, Thelin JW. Davenport SL, et al. Among authors: hefner ma. Int J Pediatr Otorhinolaryngol. 1986 Dec;12(2):137-43. doi: 10.1016/s0165-5876(86)80071-4. Int J Pediatr Otorhinolaryngol. 1986. PMID: 3570680
CHARGE syndrome. Part II. Hearing loss.
Thelin JW, Mitchell JA, Hefner MA, Davenport SL. Thelin JW, et al. Among authors: hefner ma. Int J Pediatr Otorhinolaryngol. 1986 Dec;12(2):145-63. doi: 10.1016/s0165-5876(86)80072-6. Int J Pediatr Otorhinolaryngol. 1986. PMID: 3570681
CHARGE association: an update and review for the primary pediatrician.
Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr. Blake KD, et al. Among authors: hefner ma. Clin Pediatr (Phila). 1998 Mar;37(3):159-73. doi: 10.1177/000992289803700302. Clin Pediatr (Phila). 1998. PMID: 9545604 Review.
Understanding obstructive sleep apnea in children with CHARGE syndrome.
Trider CL, Corsten G, Morrison D, Hefner M, Davenport S, Blake K. Trider CL, et al. Among authors: hefner m. Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):947-53. doi: 10.1016/j.ijporl.2012.02.061. Epub 2012 Apr 25. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22542139
65 results