Publications

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Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S. "A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
Suarez Guerrero JL, Ordónez Suarez AA, Contreras García GA. "[Kabuki syndrome.]." An Pediatr (Barc). 2012. Abstract
Stankovics J. "[Kabuki syndrome]." Orv Hetil. 1995;136(34):1841-3. Abstract
Stankiewicz P, Thiele H, Giannakudis I, et al. "Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression." Am. J. Med. Genet.. 2001;102(3):286-92. Abstract
Stalder JF, David A, Amoric JC, Bureau B, Litoux P. "[Kabuki make-up syndrome: abnormalities of the fingertips and cutaneous hyperelasticity]." Ann Dermatol Venereol. 1991;118(11):784-5.
Spano G, Campus G, Bortone A, Lai V, Lugliè PF. "Oral features in Kabuki make-up Syndrome." Eur J Paediatr Dent. 2008;9(3):149-52. Abstract
de Souza JC, Ribeiro TC, Ribeiro RC. "[Kabuki make-up syndrome]." J Pediatr (Rio J). 1996;72(5):341-4. Abstract
Sobral SP, Leite A, Figueiredo PT, et al. "Craniofacial and Dental Features in Kabuki Syndrome Patients." Cleft Palate Craniofac. J.. 2011. Abstract
Sivaci R, Kahveci OK, Celik M, Altuntas A, Solak M. "Anesthesia management in Kabuki make-up syndrome." Saudi Med J. 2005;26(12):1980-2. Abstract
Silva EO, Freitas EM, Costa SM, Duarte AR. "[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]." J Pediatr (Rio J). 1999;75(5):367-9. Abstract
Silengo MC, Lerone M, Seri M, Romeo G. "Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome." Am. J. Med. Genet.. 1996;66(3):368.
Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. "Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation." Am. J. Med. Genet.. 2002;110(4):384-90. Abstract
Shieh JTC, Hudgins L, Cherry AM, Shen Z, Hoyme EH. "Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(2):170-3. Abstract
Sharma P, Dave V. "Esotropia in Kabuki Syndrome." J Pediatr Ophthalmol Strabismus. 2009:1-3. Abstract
Sharma P, Dave V. "Esotropia in kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2010;47:e1-3. Abstract
Shalev SA, Clarke LA, Koehn D, et al. "Long-term follow-up of three individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2004;125A(2):191-200. Abstract
Shahdadpuri R, Lynch SA, Murchan H, McMahon CJ. "A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage." Pediatr Cardiol. 2008;29(4):820-2. Abstract
Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W. "Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome." Clin. Dysmorphol.. 2008;17(3):199-202.
Shah M, Bogucki B, Mavers M, deMello DE, Knutsen A. "Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract
Sethi SK, Faridi MMA. "Kabuki syndrome and diaphragmatic defect." Indian Pediatr. 2006;43(6):552-3.
Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. "Biliary atresia and Kabuki syndrome: another case with long-term follow-up." Am. J. Med. Genet.. 2001;100(3):251.
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity?" Genet. Couns.. 1991;2(4):259-61.
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism." Genet. Couns.. 1993;4(1):71-2.
Schrander-Stumpel CTRM, Spruyt L, Curfs LMG, Defloor T, Schrander JJP. "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management." Am. J. Med. Genet. A. 2005;132A(3):234-43. Abstract
Schrander-Stumpel CTRM, Meinecke P, Wilson GN, et al. "The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. Abstract