The strong association of left-side heart anomalies with Kabuki syndrome
Ja Kyoung Yoon (Yoon JK), Kyung Jin Ahn (Ahn KJ), Bo Sang Kwon (Kwon BS), Gi Beom Kim (Kim GB), Eun Jung Bae (Bae EJ), Chung Il Noh (Noh CI), Jung Min Ko (Ko JM)
Clin Exp Pediatr. 2015;58(7):256-262.   Published online 2015 Jul 22     DOI: https://doi.org/10.3345/kjp.2015.58.7.256
Citations to this article as recorded by Crossref logo
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome
Nesar A. Hasami, Kinsing Ko, Marlies J.E. Kempers, Roland R.J. van Kimmenade, Guillaume S.C. Geuzebroek
JACC: Case Reports.2024; 29(1): 102149.     CrossRef
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonn
Scientific Reports.2024;[Epub]     CrossRef
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
Sheng Yi, Xiaofei Zhang, Qi Yang, Jingjing Huang, Xunzhao Zhou, Jiale Qian, Pingshan Pan, Shang Yi, Shujie Zhang, Qiang Zhang, Xianglian Tang, Limei Huang, Qinle Zhang, Zailong Qin, Jingsi Luo
Heliyon.2023; 9(10): e20223.     CrossRef
Systemic and oral abnormalities in Kabuki syndrome: a case series
Lidiane Castro Pinto, Nancy Mizue Kokitsu-Nakata, Gisele da Silva Dalben, Lucas José de Azevedo Silva, Ana Lúcia Pompéia Fraga de Almeida
Oral Surgery, Oral Medicine, Oral Pathology and Or.2023;[Epub]     CrossRef
From Genotype to Phenotype—A Review of Kabuki Syndrome
Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
Genes.2022; 13(10): 1761.     CrossRef
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review
F. Mone, R. Y. Eberhardt, R. K. Morris, M. E. Hurles, D. J. McMullan, E. R. Maher, J. Lord, L. S. Chitty, J. L. Giordano, R. J. Wapner, M. D. Kilby
Ultrasound in Obstetrics & Gynecology.2021; 57(1): 43.     CrossRef
Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review
Ai Muroi, Takashi Enokizono, Takao Tsurubuchi, Kazuaki Tsukada, Tatsuyuki Ohto, Eiichi Ishikawa
Child's Nervous System.2021; 37(4): 1339.     CrossRef
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmsli
Genetics in Medicine.2021; 23(7): 1202.     CrossRef
Kabuki Syndrome—Clinical Review with Molecular Aspects
Snir Boniel, Krystyna Szymańska, Robert Śmigiel, Krzysztof Szczałuba
Genes.2021; 12(4): 468.     CrossRef
First Clinical Case report of a Libyan Girl with Kabuki Syndrome and Literature review
Fathia A. Murabit, Khawla A. Etwebi
Libyan Journal of Medical Research.2020; 14(2): 70.     CrossRef
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis
Janina Schwenty‐Lara, Annika Nürnberger, Annette Borchers
Developmental Dynamics.2019; 248(6): 465.     CrossRef
Hypoplastic left heart syndrome: From bedside to bench and back
Anita Saraf, Wendy M. Book, Timothy J. Nelson, Chunhui Xu
Journal of Molecular and Cellular Cardiology.2019; 135: 109.     CrossRef
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome
Maria de los Angeles Serrano, Bradley L. Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H. Joseph Yost, Katalin Susztak
PLOS Biology.2019; 17(9): e3000087.     CrossRef
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Mary Ella Pierpont, Martina Brueckner, Wendy K. Chung, Vidu Garg, Ronald V. Lacro, Amy L. McGuire, Seema Mital, James R. Priest, William T. Pu, Amy Roberts, Stephanie M. Ware, Bruce D. Gelb, Mark W. Russell
Circulation.2018;[Epub]     CrossRef
Congenital heart defects in molecularly proven Kabuki syndrome patients
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
American Journal of Medical Genetics Part A.2017; 173(11): 2912.     CrossRef
Update on 13 Syndromes Affecting Craniofacial and Dental Structures
Theodosia N. Bartzela, Carine Carels, Jaap C. Maltha
Frontiers in Physiology.2017;[Epub]     CrossRef