These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome. Fernández-Rebollo E; Pérez O; Martinez-Bouzas C; Cotarelo-Pérez MC; Garin I; Ruibal JL; Pérez-Nanclares G; Castaño L; de Nanclares GP Eur J Endocrinol; 2009 Apr; 160(4):711-7. PubMed ID: 19332529 [TBL] [Abstract][Full Text] [Related]
24. 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 Am J Med Genet; 2002 Jul; 111(1):27-30. PubMed ID: 12124729 [TBL] [Abstract][Full Text] [Related]
25. A reappraisal of the CHARGE association. Oley CA; Baraitser M; Grant DB J Med Genet; 1988 Mar; 25(3):147-56. PubMed ID: 3351900 [TBL] [Abstract][Full Text] [Related]
26. Middle and inner ear anomalies in a patient with CHARGE association. Derbent M; Tokel K; Saygili A; Akkuzu B; Oto S; Coşkun M; Balci S Genet Couns; 2003; 14(3):367-8. PubMed ID: 14577685 [No Abstract] [Full Text] [Related]
27. Radial aplasia in CHARGE syndrome: a new association. Wright EM; O'Connor R; Kerr BA Eur J Med Genet; 2009; 52(4):239-41. PubMed ID: 19375527 [TBL] [Abstract][Full Text] [Related]
28. Immunological abnormalities in CHARGE syndrome. Writzl K; Cale CM; Pierce CM; Wilson LC; Hennekam RC Eur J Med Genet; 2007; 50(5):338-45. PubMed ID: 17684005 [TBL] [Abstract][Full Text] [Related]
29. Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. Sugawara H; Egashira M; Harada N; Jakobs TC; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N J Med Genet; 2002 Jul; 39(7):E34. PubMed ID: 12114491 [No Abstract] [Full Text] [Related]
33. The CHARGE association: the role of tracheotomy. Roger G; Morisseau-Durand MP; Van Den Abbeele T; Nicollas R; Triglia JM; Narcy P; Abadie V; Manac'h Y; Garabedian EN Arch Otolaryngol Head Neck Surg; 1999 Jan; 125(1):33-8. PubMed ID: 9932584 [TBL] [Abstract][Full Text] [Related]
35. Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature. Castiglione A; Guaran V; Astolfi L; Orioli E; Zeri G; Gemmati D; Bovo R; Montaldi A; Alghisi A; Martini A Cytogenet Genome Res; 2013; 141(4):243-59. PubMed ID: 23942271 [TBL] [Abstract][Full Text] [Related]
36. New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene. Holak HM; Kohlhase J; Holak SA; Holak NH Ophthalmic Genet; 2008 Jun; 29(2):79-84. PubMed ID: 18484313 [TBL] [Abstract][Full Text] [Related]
37. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Arrington CB; Cowley BC; Nightingale DR; Zhou H; Brothman AR; Viskochil DH Am J Med Genet A; 2005 Mar; 133A(3):326-30. PubMed ID: 15672384 [TBL] [Abstract][Full Text] [Related]
38. Bilateral Marcus Gunn (jaw-winking) phenomenon occurring with CHARGE association. Weaver RG; Seaton AD; Jewett T J Pediatr Ophthalmol Strabismus; 1997; 34(5):308-9. PubMed ID: 9310920 [No Abstract] [Full Text] [Related]
39. CHARGE and Joubert syndromes: are they a single disorder? Menenzes M; Coker SB Pediatr Neurol; 1990; 6(6):428-30. PubMed ID: 1981467 [TBL] [Abstract][Full Text] [Related]
40. Expanding the "E" in CHARGE. Alazami AM; Alzahrani F; Alkuraya FS Am J Med Genet A; 2008 Jul; 146A(14):1890-2. PubMed ID: 18553515 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]