160 related articles for article (PubMed ID: 32031527)
1. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
Nardello R; Fontana A; Mangano GD; Efthymiou S; Salpietro V; Houlden H; Mangano S
Epileptic Disord; 2020 Feb; 22(1):111-115. PubMed ID: 32031527
[TBL] [Abstract][Full Text] [Related]
2. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
Kilic E; Cetinkaya A; Utine GE; Boduroğlu K
J Child Neurol; 2016 Jun; 31(7):913-7. PubMed ID: 26809768
[TBL] [Abstract][Full Text] [Related]
3. The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y; Nomura N; Yamada K; Matsuo M; Suzuki Y; Sameshima K; Kimura R; Yamamoto Y; Fukushi D; Fukuhara Y; Ishihara N; Nishi E; Imataka G; Suzumura H; Hamano S; Shimizu K; Iwakoshi M; Ohama K; Ohta A; Wakamoto H; Kajita M; Miura K; Yokochi K; Kosaki K; Kuroda T; Kosaki R; Hiraki Y; Saito K; Mizuno S; Kurosawa K; Okamoto N; Wakamatsu N
Am J Med Genet A; 2014 Aug; 164A(8):1899-908. PubMed ID: 24715670
[TBL] [Abstract][Full Text] [Related]
4. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I; Djuric O; Caraffi SG; Santodirocco D; Pollazzon M; Rosato S; Cordelli DM; Abdalla E; Accorsi P; Adam MP; Ajmone PF; Badura-Stronka M; Baldo C; Baldi M; Bayat A; Bigoni S; Bonvicini F; Breckpot J; Callewaert B; Cocchi G; Cuturilo G; De Brasi D; Devriendt K; Dinulos MB; Hjortshøj TD; Epifanio R; Faravelli F; Fiumara A; Formisano D; Giordano L; Grasso M; Grønborg S; Iodice A; Iughetti L; Kuburovic V; Kutkowska-Kazmierczak A; Lacombe D; Lo Rizzo C; Luchetti A; Malbora B; Mammi I; Mari F; Montorsi G; Moutton S; Møller RS; Muschke P; Nielsen JEK; Obersztyn E; Pantaleoni C; Pellicciari A; Pisanti MA; Prpic I; Poch-Olive ML; Raviglione F; Renieri A; Ricci E; Rivieri F; Santen GW; Savasta S; Scarano G; Schanze I; Selicorni A; Silengo M; Smigiel R; Spaccini L; Sorge G; Szczaluba K; Tarani L; Tone LG; Toutain A; Trimouille A; Valera ET; Vergano SS; Zanotta N; Zenker M; Conidi A; Zollino M; Rauch A; Zweier C; Garavelli L
Genet Med; 2018 Sep; 20(9):965-975. PubMed ID: 29300384
[TBL] [Abstract][Full Text] [Related]
5. Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A; Szczałuba K; Badura-Stronka M; Kutkowska-Kaźmierczak A; Jakubiuk-Tomaszuk A; Chilarska T; Pilch J; Braun-Walicka N; Castaneda J; Wołyńska K; Wiśniewska M; Kugaudo M; Bielecka M; Pesz K; Wierzba J; Latos-Bieleńska A; Obersztyn E; Krajewska-Walasek M; Śmigiel R
J Appl Genet; 2021 Sep; 62(3):477-485. PubMed ID: 33982229
[TBL] [Abstract][Full Text] [Related]
6. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Cordelli DM; Garavelli L; Savasta S; Guerra A; Pellicciari A; Giordano L; Bonetti S; Cecconi I; Wischmeijer A; Seri M; Rosato S; Gelmini C; Della Giustina E; Ferrari AR; Zanotta N; Epifanio R; Grioni D; Malbora B; Mammi I; Mari F; Buoni S; Mostardini R; Grosso S; Pantaleoni C; Doz M; Poch-Olivé ML; Rivieri F; Sorge G; Simonte G; Licata F; Tarani L; Terazzi E; Mazzanti L; Cerruti Mainardi P; Boni A; Faravelli F; Grasso M; Bianchi P; Zollino M; Franzoni E
Am J Med Genet A; 2013 Feb; 161A(2):273-84. PubMed ID: 23322667
[TBL] [Abstract][Full Text] [Related]
7. Mowat-Wilson syndrome presenting with fever-associated seizures.
Seo SE; Kim SH; Lee ST; Choi JR; Lee JS; Kim HD; Kang HC
Epileptic Disord; 2017 Dec; 19(4):481-485. PubMed ID: 29258970
[TBL] [Abstract][Full Text] [Related]
8. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Ghoumid J; Drevillon L; Alavi-Naini SM; Bondurand N; Rio M; Briand-Suleau A; Nasser M; Goodwin L; Raymond P; Yanicostas C; Goossens M; Lyonnet S; Mowat D; Amiel J; Soussi-Yanicostas N; Giurgea I
Hum Mol Genet; 2013 Jul; 22(13):2652-61. PubMed ID: 23466526
[TBL] [Abstract][Full Text] [Related]
9. Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM; Di Pisa V; Fetta A; Garavelli L; Maltoni L; Soliani L; Ricci E
Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34199024
[TBL] [Abstract][Full Text] [Related]
10. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
Moore SW; Fieggen K; Honey E; Zaahl M
J Pediatr Surg; 2016 Feb; 51(2):268-71. PubMed ID: 26852091
[TBL] [Abstract][Full Text] [Related]
11. ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises.
Birkhoff JC; Huylebroeck D; Conidi A
Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356053
[TBL] [Abstract][Full Text] [Related]
12. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM
Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324
[TBL] [Abstract][Full Text] [Related]
13. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Wenger TL; Harr M; Ricciardi S; Bhoj E; Santani A; Adam MP; Barnett SS; Ganetzky R; McDonald-McGinn DM; Battaglia D; Bigoni S; Selicorni A; Sorge G; Monica MD; Mari F; Andreucci E; Romano S; Cocchi G; Savasta S; Malbora B; Marangi G; Garavelli L; Zollino M; Zackai EH
Am J Med Genet A; 2014 Oct; 164A(10):2557-66. PubMed ID: 25123255
[TBL] [Abstract][Full Text] [Related]
14. ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
Buraniqi E; Moodley M
J Child Neurol; 2015 Jan; 30(1):32-6. PubMed ID: 25028418
[TBL] [Abstract][Full Text] [Related]
15. Sleep disturbance in Mowat-Wilson syndrome.
Evans E; Mowat D; Wilson M; Einfeld S
Am J Med Genet A; 2016 Mar; 170(3):654-60. PubMed ID: 26686679
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].
Ma J; Liu Y; Zhang K; Lyu Y; Gao M; Wang D; Gai Z; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May; 37(5):539-542. PubMed ID: 32335881
[TBL] [Abstract][Full Text] [Related]
17. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L; Ivanovski I; Caraffi SG; Santodirocco D; Pollazzon M; Cordelli DM; Abdalla E; Accorsi P; Adam MP; Baldo C; Bayat A; Belligni E; Bonvicini F; Breckpot J; Callewaert B; Cocchi G; Cuturilo G; Devriendt K; Dinulos MB; Djuric O; Epifanio R; Faravelli F; Formisano D; Giordano L; Grasso M; Grønborg S; Iodice A; Iughetti L; Lacombe D; Maggi M; Malbora B; Mammi I; Moutton S; Møller R; Muschke P; Napoli M; Pantaleoni C; Pascarella R; Pellicciari A; Poch-Olive ML; Raviglione F; Rivieri F; Russo C; Savasta S; Scarano G; Selicorni A; Silengo M; Sorge G; Tarani L; Tone LG; Toutain A; Trimouille A; Valera ET; Vergano SS; Zanotta N; Zollino M; Dobyns WB; Paciorkowski AR
Genet Med; 2017 Jun; 19(6):691-700. PubMed ID: 27831545
[TBL] [Abstract][Full Text] [Related]
18. Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
Murray SB; Spangler BB; Helm BM; Vergano SS
Am J Med Genet A; 2015 Oct; 167A(10):2402-5. PubMed ID: 26012591
[TBL] [Abstract][Full Text] [Related]
19. Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.
Lin LC; Wen WH; Chen PT
Pediatr Neonatol; 2024 Mar; 65(2):202-203. PubMed ID: 37980276
[No Abstract] [Full Text] [Related]
20. A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.
Hu Y; Peng Q; Ma K; Li S; Rao C; Zhong B; Lu X
J Clin Lab Anal; 2020 Sep; 34(9):e23413. PubMed ID: 32519765
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
