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Select item 106054171.

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model

Sarah Jessica Goodman, Teresa Romeo Luperchio, Jacob Ellegood, Eric Chater-Diehl, Jason P. Lerch, Hans Tomas Bjornsson, Rosanna Weksberg

Clin Epigenetics. 2023; 15: 172. Published online 2023 Oct 27. doi: 10.1186/s13148-023-01582-x

PMCID:: PMC10605417

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Select item 105804762.

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome

Mariana Nunez Stosic, Patricia Gomez

JCEM Case Rep. 2023 Mar; 1(2): luad032. Published online 2023 Apr 6. doi: 10.1210/jcemcr/luad032

PMCID:: PMC10580476

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Select item 105506293.

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 Oct; 9(10): e20223. Published online 2023 Sep 24. doi: 10.1016/j.heliyon.2023.e20223

PMCID:: PMC10550629

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Select item 104634114.

Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review

Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

BMC Pediatr. 2023; 23: 429. Published online 2023 Aug 28. doi: 10.1186/s12887-023-04273-x

PMCID:: PMC10463411

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Select item 104181975.

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice

Leandros Boukas, Teresa Romeo Luperchio, Afrooz Razi, Kasper D. Hansen, Hans T. Bjornsson

Version 1. bioRxiv. Preprint. 2023 Aug 3. doi: 10.1101/2023.08.01.551456

PMCID:: PMC10418197

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Select item 102911016.

Biliary Atresia in an Infant Presenting With Kabuki Syndrome: An Autopsy Report and Review of the Literature

Pietro Tralongo, Debora De Bartolo, Nicola Silvestri, Giulia Mercuri, Antonio Oliva, Vincenzo Arena

Pediatr Dev Pathol. 2023 May-Jun; 26(3): 318–320. Published online 2023 Mar 28. doi: 10.1177/10935266231161384

PMCID:: PMC10291101

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Select item 102881067.

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia

Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, Luigi Tarani

Front Pediatr. 2023; 11: 1087002. Published online 2023 Jun 9. doi: 10.3389/fped.2023.1087002

PMCID:: PMC10288106

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Select item 102204558.

Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome

Saloua Ait Souabni, Antoine Harvengt, Camille Legat, Philippe A. Lysy

Clin Case Rep. 2023 Jun; 11(6): e7336. Published online 2023 May 26. doi: 10.1002/ccr3.7336

PMCID:: PMC10220455

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Select item 99486859.

Vitiligo in a Patient With Kabuki Syndrome: Case Study and Review of the Literature

Karli Gage, Amanda S Weissman, Jeffrey McBride

Cureus. 2023 Jan; 15(1): e34143. Published online 2023 Jan 24. doi: 10.7759/cureus.34143

PMCID:: PMC9948685

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Select item 987173710.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson, Jonathan F. Russell

Am J Ophthalmol Case Rep. 2023 Mar; 29: 101798. Published online 2023 Jan 19. doi: 10.1016/j.ajoc.2023.101798

PMCID:: PMC9871737

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Select item 982964411.

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

Sietse M. Aukema, Selina Glaser, Mari F. C. M. van den Hout, Sonja Dahlum, Marinus J. Blok, Morten Hillmer, Julia Kolarova, Raf Sciot, Dina A. Schott, Reiner Siebert, Constance T. R. M. Stumpel

Fam Cancer. 2023; 22(1): 103–118. Published online 2022 Jul 19. doi: 10.1007/s10689-022-00306-z

PMCID:: PMC9829644

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Select item 976243812.

Врожденный гиперинсулинизм в составе синдрома Кабуки

А. Р. Бенина, М. А. Меликян

Probl Endokrinol (Mosk) 2022; 68(5): 91–96. Russian. Published online 2022 Jul 20. doi: 10.14341/probl13145

PMCID:: PMC9762438

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Select item 961657413.

Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)

Malvin Jefri, Xin Zhang, Patrick S Stumpf, Li Zhang, Huashan Peng, Nuwan Hettige, Jean-Francois Theroux, Zahia Aouabed, Khadija Wilson, Shriya Deshmukh, Lilit Antonyan, Anjie Ni, Shaima Alsuwaidi, Ying Zhang, Nada Jabado, Benjamin A Garcia, Andreas Schuppert, Hans T Bjornsson, Carl Ernst

Hum Mol Genet. 2022 Nov 1; 31(21): 3715–3728. Published online 2022 May 28. doi: 10.1093/hmg/ddac121

PMCID:: PMC9616574

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Select item 960185014.

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 (Basel) 2022 Oct; 13(10): 1761. Published online 2022 Sep 29. doi: 10.3390/genes13101761

PMCID:: PMC9601850

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Select item 958244115.

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

Allison J. Kalinousky, Tyler Rapp, Hadia Hijazi, Jennifer Johnson, Hans Tomas Bjornsson, Jacqueline R. Harris

Front Genet. 2022; 13: 1007046. Published online 2022 Oct 6. doi: 10.3389/fgene.2022.1007046

PMCID:: PMC9582441

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Select item 947461316.

Sleep disturbance is a common feature of Kabuki syndrome

Tyler Rapp, Allison J Kalinousky, Jennifer Johnson, Hans Bjornsson, Jacqueline Harris

Am J Med Genet A. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Am J Med Genet A. 2022 Oct; 188(10): 3041–3048. Published online 2022 Aug 5. doi: 10.1002/ajmg.a.62921

PMCID:: PMC9474613

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Select item 945911117.

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing

Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen, Libo Wang

Front Pediatr. 2022; 10: 933693. Published online 2022 Aug 26. doi: 10.3389/fped.2022.933693

PMCID:: PMC9459111

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Select item 939115818.

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners

Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina, Dashzeveg Bayarsaihan

Stem Cells Int. 2022; 2022: 4969441. Published online 2022 Aug 12. doi: 10.1155/2022/4969441

PMCID:: PMC9391158

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Select item 932196619.

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

Carolina Montano, Jacquelyn F. Britton, Jacqueline R. Harris, Jennifer Kerkhof, Benjamin T. Barnes, Jennifer A. Lee, Bekim Sadikovic, Nara Sobreira, Jill A. Fahrner

Am J Med Genet A. 2022 Jul; 188(7): 2217–2225. Published online 2022 Apr 6. doi: 10.1002/ajmg.a.62754

PMCID:: PMC9321966

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Select item 930378020.

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder

Ashish Marwaha, Gregory Costain, Cheryl Cytrynbaum, Roberto Mendoza‐Londono, Lauren Chad, Zain Awamleh, Eric Chater‐Diehl, Sanaa Choufani, Rosanna Weksberg

Am J Med Genet A. 2022 May; 188(5): 1368–1375. Published online 2022 Jan 18. doi: 10.1002/ajmg.a.62650