156 related articles for article (PubMed ID: 35512351)
1. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Riedhammer KM; Burgemeister AL; Cantagrel V; Amiel J; Siquier-Pernet K; Boddaert N; Hertecant J; Kannouche PL; Pouvelle C; Htun S; Slavotinek AM; Beetz C; Diego-Alvarez D; Kampe K; Fleischer N; Awamleh Z; Weksberg R; Kopajtich R; Meitinger T; Suleiman J; El-Hattab AW
Hum Mol Genet; 2022 Sep; 31(18):3083-3094. PubMed ID: 35512351
[TBL] [Abstract][Full Text] [Related]
2. Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.
Sezer A; Kayhan G; Percin FE
Eur J Med Genet; 2023 Sep; 66(9):104809. PubMed ID: 37474017
[TBL] [Abstract][Full Text] [Related]
3. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J; Riedhammer KM; Jicinsky T; Mundt M; Werner L; Gusic M; Burgemeister AL; Alsaif HS; Abdulrahim M; Moghrabi NN; Nicolas-Jilwan M; AlSayed M; Bi W; Sampath S; Alkuraya FS; El-Hattab AW
Hum Mutat; 2019 Nov; 40(11):1985-1992. PubMed ID: 31209944
[TBL] [Abstract][Full Text] [Related]
4. TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
Suleiman J; Mundt M; Sampath S; El-Hattab AW
Clin Genet; 2018 Jul; 94(1):170-173. PubMed ID: 29633245
[TBL] [Abstract][Full Text] [Related]
5. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT
Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178
[TBL] [Abstract][Full Text] [Related]
6. Taspase1 orchestrates fetal liver hematopoietic stem cell and vertebrae fates by cleaving TFIIA.
Niizuma H; Searleman AC; Takeda S; Armstrong SA; Park CY; Cheng EH; Hsieh JJ
JCI Insight; 2021 Aug; 6(15):. PubMed ID: 34156981
[TBL] [Abstract][Full Text] [Related]
7. Taspase1-dependent TFIIA cleavage coordinates head morphogenesis by limiting Cdkn2a locus transcription.
Takeda S; Sasagawa S; Oyama T; Searleman AC; Westergard TD; Cheng EH; Hsieh JJ
J Clin Invest; 2015 Mar; 125(3):1203-14. PubMed ID: 25664857
[TBL] [Abstract][Full Text] [Related]
8. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Yap CS; Jamuar SS; Lai AHM; Tan ES; Ng I; Ting TW; Tan EC
Gene; 2020 Mar; 731():144360. PubMed ID: 31935506
[TBL] [Abstract][Full Text] [Related]
9. Comparison of methylation episignatures in
Lee S; Ochoa E; Barwick K; Cif L; Rodger F; Docquier F; Pérez-Dueñas B; Clark G; Martin E; Banka S; Kurian MA; Maher ER
Epigenomics; 2022 May; 14(9):537-547. PubMed ID: 35506254
[TBL] [Abstract][Full Text] [Related]
10. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.
Shpargel KB; Mangini CL; Xie G; Ge K; Magnuson T
Development; 2020 Jul; 147(21):. PubMed ID: 32541010
[TBL] [Abstract][Full Text] [Related]
11. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH
Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376
[TBL] [Abstract][Full Text] [Related]
12. Holoprosencephaly in Kabuki syndrome.
Daly T; Roberts A; Yang E; Mochida GH; Bodamer O
Am J Med Genet A; 2020 Mar; 182(3):441-445. PubMed ID: 31846209
[TBL] [Abstract][Full Text] [Related]
13. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y; Freese L; Mänz J; Zoll B; Völter C; Brockmann K; Bögershausen N; Becker J; Wollnik B; Pauli S
Hum Mol Genet; 2014 Aug; 23(16):4396-405. PubMed ID: 24705355
[TBL] [Abstract][Full Text] [Related]
14. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A; Sinkovskaya ES; Edmondson AC; Zackai E; Schrier Vergano SA
Am J Med Genet A; 2016 Dec; 170(12):3333-3337. PubMed ID: 27568880
[TBL] [Abstract][Full Text] [Related]
15. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of
Porntaveetus T; Abid MF; Theerapanon T; Srichomthong C; Ohazama A; Kawasaki K; Kawasaki M; Suphapeetiporn K; Sharpe PT; Shotelersuk V
Int J Biol Sci; 2018; 14(4):381-389. PubMed ID: 29725259
[TBL] [Abstract][Full Text] [Related]
16. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M; Marafi D; Abdel-Salam GMH; Zaki MS; Duan R; Calame D; Herman I; Levesque F; Elbendary HM; Hegazy I; Chung WK; Kavus H; Saeidi K; Maroofian R; AlHashim A; Al-Otaibi A; Al Madhi A; Abou Al-Seood HM; Alasmari A; Houlden H; Gleeson JG; Hunter JV; Posey JE; Lupski JR; El-Hattab AW
Clin Genet; 2022 May; 101(5-6):530-540. PubMed ID: 35322404
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D; Spillmann RC; Wegner DJ; Wambach JA; White FV; Sisco K; Toler TL; Dickson PI; Cole FS; Shashi V; Grange DK
Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
[TBL] [Abstract][Full Text] [Related]
18. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
McVeigh TP; Banka S; Reardon W
Clin Dysmorphol; 2015 Oct; 24(4):135-9. PubMed ID: 26049589
[TBL] [Abstract][Full Text] [Related]
19. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S; Hartill V; Colyer A; Garner T; Nair N; Al-Gazali L; Canham N; Faundes V; Flinter F; Hertecant J; Holder-Espinasse M; Jackson B; Lynch SA; Nadat F; Narasimhan VM; Peckham M; Sellers R; Seri M; Montanari F; Southgate L; Squeo GM; Trembath R; van Heel D; Venuto S; Weisberg D; Stals K; Ellard S; ; Barton A; Kimber SJ; Sheridan E; Merla G; Stevens A; Johnson CA; Banka S
Genet Med; 2020 May; 22(5):867-877. PubMed ID: 31949313
[TBL] [Abstract][Full Text] [Related]
20. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
