Works matching Kabuki

Results: 776

Systematic review of Kabuki Syndrome's phenotype with KMT2D gene mutation.

Published in:

RevInter, 2019, v. 12, n. 1, p. 60, doi. 10.22280/revintervol12ed1.426

By:

Bonini Fischetti, Leonardo;
Zaccarelli Magalhães, Julia;
Rinaldi Fukushima, André;
Waziry, Paula;
Lopes Ricci, Esther

Publication type:

Article

Kabuki makeup sendromlu hastada genel anestezi uygulaması.

Published in:

2013

By:

Erden, İsmail Aydın;
Köseoğlu, Ayhan;
Kürkçüoğlu, Bekir Suat;
Akıncı, Seda Banu;
Aypar, Ülkü

Publication type:

Case Study

Síndrome de Kabuki: caracterización clínica, estudios genéticos, manejo preventivo de las complicaciones y asesoría genética.

Published in:

Médicas UIS, 2012, v. 25, n. 1, p. 17

By:

Suárez-Guerrero, Jorge Luis;
Contreras-García, Gustavo Adolfo

Publication type:

Article

Síndrome de Kabuki, Presentación de un caso.

Published in:

Revista ADM, 2012, v. 69, n. 3, p. 135

By:

Paz Victoria, Héctor David;
Rodríguez Álvarez, María Elena;
Fuentes Chávez, Jamily;
Sánchez Mora, Marlem

Publication type:

Article

Descrição de uma forma autossômica dominante de síndrome de Kabukipor mutação no gene MLL2.

Published in:

Scientia Medica, 2013, v. 23, n. 1, p. 47, doi. 10.15448/1980-6108.2013.1.12083

By:

Santos, Maria Inês;
Beleza-Meireles, Ana;
Loureiro, Susana;
Fonseca, Margarida;
Reis, Cláudia F.;
Rodrigues, Fidjy;
Ramos, Fabiana;
Ramos, Lina;
Cardoso, Elisa;
Saraiva, Jorge

Publication type:

Article

Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 283, doi. 10.1111/cge.12983

By:

Lintas, C.;
Persico, A. M.

Publication type:

Article

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 255, doi. 10.1111/cge.12484

By:

Lin, J.‐L.;
Lee, W.‐I.;
Huang, J.‐L.;
Chen, P. K.‐T.;
Chan, K.‐C.;
Lo, L.‐J.;
You, Y.‐J.;
Shih, Y.‐F.;
Tseng, T.‐Y.;
Wu, M.‐C.

Publication type:

Article

Good Girl Art - facing images of women in David Mack's Kabuki.

Published in:

Journal of Graphic Novels & Comics, 2011, v. 2, n. 1, p. 39, doi. 10.1080/21504857.2011.579428

By:

Beckman, Frida

Publication type:

Article

Insights into the molecular genetics of Kabuki syndrome.

Published in:

Advances in Medical Education & Practice, 2015, v. 6, p. 121, doi. 10.2147/AGG.S58588

By:

Adam, Margaret P.

Publication type:

Article

Craniofacial and Dental Characteristics of Kabuki Syndrome: Nine Years Cephalometric Follow-Up.

Published in:

Journal of Clinical Pediatric Dentistry, 2012, v. 36, n. 4, p. 393, doi. 10.17796/jcpd.36.4.u021164272805116

By:

Tuna, E. B.;
Marşan, G.;
Gençay, K.;
Seymen, F.

Publication type:

Article

Autoimmune haematological disorders in two Italian children with Kabuki Syndrome.

Published in:

Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-10

By:

Giordano, Paola;
Lassandro, Giuseppe;
Sangerardi, Maria;
Faienza, Maria Felicia;
Valente, Federica;
Martire, Baldassarre

Publication type:

Article

THE ROLE OF THE NURSING TEAM IN THE CARE OF PATIENTS WITH KABUKI SYNDROME.

Published in:

Medical Science Pulse, 2018, v. 12, n. 3, p. 36, doi. 10.5604/01.3001.0012.5180

By:

STRUZIK, MAŁGORZATA;
GAWLIK, MARTA

Publication type:

Article

Craniofacial and Dental Features in Kabuki Syndrome Patients.

Published in:

Cleft Palate Craniofacial Journal, 2013, v. 50, n. 4, p. 440, doi. 10.1597/11-052

By:

do Prado Sobral, Samantha;
Ferreira Leite, André;
Sousa Figueiredo, Paulo Tadeu;
Ferrari, Íris;
Neto Safatle, Heloísa Pires;
Santos Córdoba, Mara;
Ribeiro Versiani, Beatriz;
Acevedo, Ana Carolina;
Dantas Mestrinho, Heliana

Publication type:

Article

Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029

By:

Dentici, Maria Lisa;
Barresi, Sabina;
Niceta, Marcello;
Pantaleoni, Francesca;
Pizzi, Simone;
Dallapiccola, Bruno;
Tartaglia, Marco;
Digilio, Maria Cristina

Publication type:

Article

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 258, doi. 10.1111/cge.12773

By:

Lange, L.;
Pagnamenta, A. T.;
Lise, S.;
Clasper, S.;
Stewart, H.;
Akha, E. S.;
Quaghebeur, G.;
Knight, S. J. L.;
Keays, D. A.;
Taylor, J. C.;
Kini, U.

Publication type:

Article

Novel KDM6A ( UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome ( KS2).

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 252, doi. 10.1111/cge.12363

By:

Banka, S.;
Lederer, D.;
Benoit, V.;
Jenkins, E.;
Howard, E.;
Bunstone, S.;
Kerr, B.;
McKee, S.;
Lloyd, I.C.;
Shears, D.;
Stewart, H.;
White, S.M.;
Savarirayan, R.;
Mancini, G.M.S.;
Beysen, D.;
Cohn, R.D.;
Grisart, B.;
Maystadt, I.;
Donnai, D.

Publication type:

Article

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Published in:

Clinical Genetics, 2013, v. 84, n. 6, p. 539, doi. 10.1111/cge.12081

By:

Makrythanasis, P;
van Bon, BW;
Steehouwer, M;
Rodríguez-Santiago, B;
Simpson, M;
Dias, P;
Anderlid, BM;
Arts, P;
Bhat, M;
Augello, B;
Biamino, E;
Bongers, EMHF;
del Campo, M;
Cordeiro, I;
Cueto-González, AM;
Cuscó, I;
Deshpande, C;
Frysira, E;
Izatt, L;
Flores, R

Publication type:

Article

Anesthetic care of a child with Kabuki syndrome.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2023, v. 11, n. 1, p. 16, doi. 10.14587/paccj.2023.3

By:

Elmitwalli, I.;
Banoub, R.;
Heng, R.;
Tobias, J. D.

Publication type:

Article

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Published in:

Pediatrics International, 2015, v. 57, n. 4, p. 726, doi. 10.1111/ped.12574

By:

Gohda, Yuji;
Oka, Shohki;
Matsunaga, Takamoto;
Watanabe, Satoshi;
Yoshiura, Koh‐ichiro;
Kondoh, Tatsuro;
Matsumoto, Tadashi

Publication type:

Article

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Published in:

Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 97, doi. 10.24953/turkjped.2016.01.015

By:

Bekircan-Kurt, Can Ebru;
Şimşek-Kiper, Pelin Özlem;
Boduroğlu, Koray;
Dericioğlu, Neşe

Publication type:

Article

Unlocking the Genetic Link between Kabuki Syndrome and Schizophrenia: Implications for Diagnosis and Treatment.

Published in:

International Journal of High School Research, 2023, v. 5, n. 5, p. 82, doi. 10.36838/v5i5.15

By:

Minkyung Sung

Publication type:

Article

Early Meiji kabuki censorship.

Published in:

Japan Forum, 2007, v. 19, n. 3, p. 317, doi. 10.1080/09555800701579966

By:

Payne, Rachel

Publication type:

Article

A de novo <italic>KMT2D</italic> mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

Published in:

2018

By:

Moon, Jung-Eun;
Lee, Su-Jeong;
Ko, Cheol Woo

Publication type:

Case Study

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Published in:

2017

By:

Sonoko Sakata;
Satoshi Okada;
Kohei Aoyama;
Keiichi Hara;
Chihiro Tani;
Reiko Kagawa;
Akari Utsunomiya-Nakamura;
Shinichiro Miyagawa;
Tsutomu Ogata;
Haruo Mizuno;
Masao Kobayashi

Publication type:

Case Study

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review.

Published in:

Clinics & Practice, 2016, v. 6, n. 3, p. 68, doi. 10.4081/cp.2016.848

By:

Gole, Hobia;
Chuk, Raymond;
Coman, David

Publication type:

Article

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.

Published in:

Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 319, doi. 10.1159/000449221

By:

Schott, Dina a.;
Gerver, Willem J.M.;
Stumpel, Constance T.R.M.

Publication type:

Article

From Topos To Utopia: Is Kabuki Bound To Its Cultural Origin?

Published in:

Contemporary Theatre Review, 1994, v. 1, n. 2, p. 85, doi. 10.1080/10486809408568268

By:

Maurin, Frédéric

Publication type:

Article

Creating Kabuki for the West.

Published in:

Contemporary Theatre Review, 1994, v. 1, n. 2, p. 113, doi. 10.1080/10486809408568270

By:

Pronko, Leonard C.

Publication type:

Article

The Kabuki Tradition and Creative Flexibility.

Published in:

International Journal of Arts Theory & History, 2019, v. 14, n. 2, p. 25, doi. 10.18848/2326-9952/CGP/v14i02/25-36

By:

Yukihide Endo

Publication type:

Article

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).

Published in:

2014

By:

Yi-Hsing Chen;
Ming-Hui Sun;
Shao-Hsuan Hsia;
Chi-Chun Lai;
Wei-Chi Wu

Publication type:

Case Study

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Published in:

2015

By:

Roma, Davide;
Palma, Paolo;
Capolino, Rossella;
Figà-Talamanca, Lorenzo;
Diomedi-Camassei, Francesca;
Lepri, Francesca Romana;
Digilio, Maria Cristina;
Marras, Carlo Efisio;
Messina, Raffaella;
Carai, Andrea;
Randi, Franco;
Mastronuzzi, Angela

Publication type:

Case Study

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0171-4

By:

Shuang Liu;
Xiafei Hong;
Cheng Shen;
Quan Shi;
Jian Wang;
Feng Xiong;
Zhengqing Qiu

Publication type:

Article

A Child with Kabuki Syndrome and Autism Spectrum Disorder.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2016, v. 53, n. 3, p. 280, doi. 10.5152/npa.2015.10099

By:

SERTÇELİK, Mehmet;
UĞUR, Çağatay;
AKÖZEL, Aynur ŞAHİN;
GÜRKAN, Cihat Kağan

Publication type:

Article

Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome.

Published in:

Journal of Intellectual Disability Research, 2019, v. 63, n. 6, p. 498, doi. 10.1111/jir.12597

By:

Dongen, L. C. M.;
Wingbermühle, P. A. M.;
Veld, W. M.;
Stumpel, C.;
Kleefstra, T.;
Egger, J. I. M.

Publication type:

Article

Orthodontic Treatment of a Kabuki Syndrome Patient.

Published in:

Cleft Palate Craniofacial Journal, 2018, v. 55, n. 8, p. 1175, doi. 10.1177/1055665618765775

By:

Cudzilo, Dorota;
Czochrowska, Ewa

Publication type:

Article

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

Published in:

Cleft Palate Craniofacial Journal, 2014, v. 51, n. 6, p. 729, doi. 10.1597/12-258

By:

David-Paloyo, Ferri P.;
Xuecai Yang;
Ju-Li Lin;
Fen-Hwa Wong;
Yah-Huei Wu-Chou;
Lun-Jou Lo

Publication type:

Article

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 298, doi. 10.1111/cge.13010

By:

Lehman, N.;
Mazery, A.C.;
Visier, A.;
Baumann, C.;
Lachesnais, D.;
Capri, Y.;
Toutain, A.;
Odent, S.;
Mikaty, M.;
Goizet, C.;
Taupiac, E.;
Jacquemont, M.L.;
Sanchez, E.;
Schaefer, E.;
Gatinois, V.;
Faivre, L.;
Minot, D.;
Kayirangwa, H.;
Sang, K.‐H.L.Q.;
Boddaert, N.

Publication type:

Article

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 230, doi. 10.1111/cge.12754

By:

Paděrová, J.;
Holubová, A.;
Simandlová, M.;
Puchmajerová, A.;
Vlčková, M.;
Malíková, M.;
Pourová, R.;
Vejvalková, S.;
Havlovicová, M.;
Šenkeříková, M.;
Ptáková, N.;
Drábová, J.;
Geryk, J.;
Maver, A.;
Křepelová, A.;
Macek, M.

Publication type:

Article

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 467, doi. 10.1111/j.1399-0004.2012.01955.x

By:

Banka, S;
Howard, E;
Bunstone, S;
Chandler, KE;
Kerr, B;
Lachlan, K;
McKee, S;
Mehta, SG;
Tavares, ALT;
Tolmie, J;
Donnai, D

Publication type:

Article

Unmasking Kabuki syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 201, doi. 10.1111/cge.12051

By:

Bögershausen, N;
Wollnik, B

Publication type:

Article

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child.

Published in:

Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 1, p. 87, doi. 10.1016/j.ejmhg.2015.12.001

By:

Shawky, Rabah M.;
Gamal, Radwa;
Mostafa, Nayera

Publication type:

Article

Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.

Published in:

2023

By:

Minato, Takafumi;
Tanaka, Hiroyuki;
Sugimoto, Miki;
Sekiguchi, Masahiro;
Kuroda, Yukiko;
Kinumaki, Akiko;
Kato, Motohiro

Publication type:

Case Study

Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome.

Published in:

2019

By:

Ko, Hoon;
Kim, Geena;
Lee, Hyoung Doo;
Kim, Hyungtae;
Sung, Si Chan

Publication type:

Case Study

Haiku and Kabuki: How Global Art Informed the Science of Pioneer Filmmaker Sergei Eisenstein.

Published in:

International Journal of Science in Society, 2012, v. 3, n. 2, p. 171, doi. 10.18848/1836-6236/CGP/v03i02/51222

By:

Mirrer, Kristine

Publication type:

Article

Cochlear Implantation in a Patient with Kabuki Syndrome.

Published in:

Journal of International Advanced Otology, 2016, v. 12, n. 1, p. 129, doi. 10.5152/iao.2016.2004

By:

Vesseur, Annemarie;
Cillessen, Eva;
Mylanus, Emmanuel

Publication type:

Article

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 4, p. 452, doi. 10.4274/jcrpe.galenos.2020.2020.0065

By:

Mısırlıgil, Mina;
Yıldız, Yılmaz;
Akın, Onur;
Güneş, Sevinç Odabaşı;
Arslan, Mutluay;
Ünay, Bülent

Publication type:

Article

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

Published in:

2015

By:

Gürbüz, Fatih;
Yüreğir, Özge Özalp;
Ceylaner, Serdar;
Topaloğlu, Ali Kemal;
Yüksel, Bilgin

Publication type:

Abstract

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 83

By:

Gürbüz, Fatih;
Yüreğir, Özge Özalp;
Ceylaner, Serdar;
Topaloğlu, Ali Kemal

Publication type:

Article

Kabuki Syndrome: a case report with severe ocular abnormalities.

Published in:

2013

By:

Cord Medina, Flavio Mac;
Rodriguez, Pamela;
de Souza Cabral, Renata Tavares;
de Castro, Marcia Brazuna;
Llerena Junior, Juan Clinton;
Miguel Japiassú, Ricardo

Publication type:

Case Study

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Published in:

Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3

By:

Merdler-Rabinowicz, Rona;
Pode-Shakked, Ben;
Vivante, Asaf;
Lahav, Einat;
Kagan, Maayan;
Chorin, Odelia;
Somech, Raz;
Raas-Rothschild, Annick

Publication type:

Article