Publications

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1
De Dios JAA, Javaid AA, Ballesteros E, Metersky ML. "An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease." Conn Med. 2012;76(1):15-8. Abstract
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Johnson G, Mayhew JF. "Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
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Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
D
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. "Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
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Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
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Cools F, Jaeken J. "Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis." Am. J. Med. Genet.. 1997;71(4):472-4. Abstract
Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W. "Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract
Calvo Campoverde K, Gean E, Piquer Gibert M, et al. "Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
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Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
Zarate YA, Zhan H, Jones JR. "Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract
Kumar JM, Gowrishankar K, Vasanthi T, Kumar AR, Jayasudha T. "Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association." Indian J Hum Genet. 2011;17(3):241-3. Abstract
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Crane B, Alpert PT, Cyrkiel D, Jauregui A. "Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. Abstract
Ho J, Fox D, Innes MA, et al. "Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia." J. Pediatr. Endocrinol. Metab.. 2010;23(9):975-9. Abstract
Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E. "Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature." J. Pediatr. Gastroenterol. Nutr.. 2007;45(2):261-4.
Burke LW, Jones MC. "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
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Vaux KK, Hudgins L, Bird LM, et al. "Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract
Hempel JM, Jäger L, Naumann A, Schorn K. "[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
Banka S, Lederer D, Benoit V, et al. "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)." Clin. Genet.. 2014. Abstract
Lu J, Mo G, Ling Y, Ji L. "A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
Kim SJ, Cho SY, Maeng SH, et al. "A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
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Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. "Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome." Clin. Dysmorphol.. 1993;2(3):269-73. Abstract
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McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. "Ring chromosome X in a child with manifestations of Kabuki syndrome." Am. J. Med. Genet.. 1997;70(1):37-42. Abstract
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Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. "Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract