Works matching DE "KABUKI syndrome"

Results: 90

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.

Published in:

Bioinformatics, 2015, v. 31, n. 22, p. 3577, doi. 10.1093/bioinformatics/btv457

By:

Na Zhu;
Heinrich, Verena;
Dickhaus, Thorsten;
Hecht, Jochen;
Robinson, Peter N.;
Mundlos, Stefan;
Kamphans, Tom;
Krawitz, Peter M.

Publication type:

Article

Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.

Published in:

JAMA Network Open, 2024, v. 7, n. 3, p. e242609, doi. 10.1001/jamanetworkopen.2024.2609

By:

Waikel, Rebekah L.;
Othman, Amna A.;
Patel, Tanviben;
Ledgister Hanchard, Suzanna;
Hu, Ping;
Tekendo-Ngongang, Cedrik;
Duong, Dat;
Solomon, Benjamin D.

Publication type:

Article

Sirolimus as an alternative treatment in patients with granulomatous‐lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

Published in:

2018

By:

Deyà‐Martínez, Angela;
Esteve‐Solé, Ana;
Vélez‐Tirado, Natalia;
Celis, Veronica;
Costa, Jordi;
Cols, Maria;
Jou, Cristina;
Vlagea, Alexandru;
Plaza‐Martin, Ana María;
Juan, Manel;
Alsina, Laia

Publication type:

Case Study

Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature.

Published in:

2016

By:

Giudici, Valentina;
Kanani, Mazyar;
Muthialu, Nagarajan;
Carr, Michelle;
Calder, Alistair D.;
Owens, Catherine M.;
Cook, Andrew C.;
Marek, Jan

Publication type:

journal article

c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2023, v. 60, n. 4, p. 380, doi. 10.29399/npa.28417

By:

Alp, Anıl;
Eroğlu, Elçin Özçelik;
Yıldız, M. İrem;
Ceylan, Ahmet Cevdet;
Demir, Başaran;
Özer, Suzan

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

Kabuki syndrome and HDAC inhibitors.

Published in:

Nature Genetics, 2014, v. 46, n. 11, p. 1159, doi. 10.1038/ng.3134

By:

Niemitz, Emily

Publication type:

Article

Attention challenges in Kabuki syndrome.

Published in:

Journal of Intellectual Disability Research, 2024, v. 68, n. 2, p. 173, doi. 10.1111/jir.13100

By:

Kalinousky, A. J.;
Rapp, T.;
Harris, J. R.

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

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

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

Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126873

By:

Moosmann, Julia;
Uebe, Steffen;
Dittrich, Sven;
Rüffer, André;
Ekici, Arif B.;
Toka, Okan

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

Make up your knowledge: Kabuki make-up syndrome and pes planovalgus.

Published in:

2021

By:

Doğan, Yahya;
Kaymak, Bayram;
Özçakar, Levent

Publication type:

Case Study

Pilomatricoma Associated with Kabuki Syndrome.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 1, p. e26, doi. 10.1111/pde.13014

By:

Bernier, Fanny ‐ Emmanuelle;
Schreiber, Ariane;
Coulombe, Jérome;
Hatami, Afshin;
Marcoux, Danielle

Publication type:

Article

Multiple Pilomatricomas in Kabuki Syndrome.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 2, p. 253, doi. 10.1111/j.1525-1470.2011.01718.x

By:

Hamahata, Atsumori;
Kamei, Wataru;
Ishikawa, Masashi;
Konoeda, Hisato;
Yamaki, Takashi;
Sakurai, Hiroyuki

Publication type:

Article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25

By:

Cheon, Chong Kun;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Yeoun Joo;
Song, Ji Sun;
Moon, Jea Woo;
Yang, Bo Kyoung;
Ha, Il Soo;
Bae, Eun Jung;
Jin, Hyun-Seok;
Jeong, Seon-Yong

Publication type:

Article

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Published in:

Molecular Psychiatry, 2013, v. 18, n. 2, p. 141, doi. 10.1038/mp.2012.58

By:

Ku, C S;
Polychronakos, C;
Tan, E K;
Naidoo, N;
Pawitan, Y;
Roukos, D H;
Mort, M;
Cooper, D N

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

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

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

Kabuki Make-up Syndrome -- A Case Report with Electromyographic study.

Published in:

2014

By:

SATTUR, ATUL;
DESHMUKH, PALLAVI K.;
ABRAHIM, LIJOY;
NAIKMASUR, VENKATESH G.

Publication type:

Case Study

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

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 case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 554, doi. 10.1111/cge.13023

By:

Miyake, N.;
Inaba, M.;
Mizuno, S.;
Shiina, M.;
Imagawa, E.;
Miyatake, S.;
Nakashima, M.;
Mizuguchi, T.;
Takata, A.;
Ogata, K.;
Matsumoto, N.

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

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

Delineation of clinical features in Wiedemann--Steiner syndrome caused by KMT2A mutations.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 115, doi. 10.1111/cge.12586

By:

Miyake, N.;
Tsurusaki, Y.;
Koshimizu, E.;
Okamoto, N.;
Kosho, T.;
Brown, N.J.;
Tan, T.Y.;
Yap, P.J.J.;
Suzumura, H.;
Tanaka, T.;
Nagai, T.;
Nakashima, M.;
Saitsu, H.;
Niikawa, N.;
Matsumoto, N.

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

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

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

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 212, doi. 10.1111/cge.12050

By:

Bögershausen, N;
Bruford, E;
Wollnik, B

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 Syndrome in a Newborn with a Complex Left-Sided Cardiac Lesion and Persistent Hypoglycemia due to Hyperinsulinism.

Published in:

2020

By:

Ramanathan, Subhadra;
Clark, Robin Dawn

Publication type:

Case Study

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

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

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

Published in:: 2023
Publication type:: Correction Notice

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

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

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

Animal models of Kabuki syndrome and their applicability to novel drug discovery.

Published in:

Expert Opinion on Drug Discovery, 2025, v. 20, n. 2, p. 253, doi. 10.1080/17460441.2025.2457624

By:

Mertens, Mareike;
Khalife, Leen;
Ma, Xiaoting;
Bodamer, Olaf

Publication type:

Article

Case report of an adolescent girl with Kabuki syndrome and kyphoscoliosis, resistant at the conservative orthopedic treatment.

Published in:

2012

By:

Taranu, M. A.;
Colomer Giralt, M.;
Calderón Padilla, V.;
Pujol Blaya, V.;
Quesada Morán, L.;
Cavanilles Walker, J. M.;
Núñez García, B. M.;
Rodríguez Monje, C.

Publication type:

Abstract

Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome.

Published in:

2015

By:

Kapoor, Shailendra

Publication type:

Letter to the Editor

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

Published in:

2013

By:

Topcu, Yasemin;
Bayram, Erhan;
Karaoglu, Pakize;
Yis, Uluc;
Kurul, Semra Hiz

Publication type:

Letter