154 related articles for article (PubMed ID: 24781182)
1. [Johanson-Blizzard syndrome: audiological features and results of cochlear implantation].
Chugunova TI; Bakhshinian VV; Markova TG; Goikhburg MV; Zherenkova VV
Vestn Otorinolaringol; 2014; (2):90-2. PubMed ID: 24781182
[TBL] [Abstract][Full Text] [Related]
2. Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.
Holcomb MA; Rizk HG; Morris NS; Meyer TA
Int J Pediatr Otorhinolaryngol; 2017 Apr; 95():69-71. PubMed ID: 28576536
[TBL] [Abstract][Full Text] [Related]
3. A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.
Civelek Z; Urganci N; Usta M; Celik M
J Pak Med Assoc; 2018 May; 68(5):801-803. PubMed ID: 29885188
[TBL] [Abstract][Full Text] [Related]
4. Johanson-Blizzard syndrome with associated urogenital anomalies.
Sood A; Jamzadeh A; Chowdhury M; Lakshmanan Y
BMJ Case Rep; 2018 Aug; 2018():. PubMed ID: 30097546
[TBL] [Abstract][Full Text] [Related]
5. Johanson-Blizzard syndrome presenting as chronic diarrhoea.
Kalathia MB; Popat Y; Goyal JP
Trop Gastroenterol; 2015; 36(3):195-6. PubMed ID: 27522741
[No Abstract] [Full Text] [Related]
6. Johanson-blizzard syndrome.
Godbole K; Maja S; Leena H; Martin Z
Indian Pediatr; 2013 May; 50(5):510-2. PubMed ID: 23778732
[TBL] [Abstract][Full Text] [Related]
7. Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
Atik T; Karakoyun M; Sukalo M; Zenker M; Ozkinay F; Aydoğdu S
Gene; 2015 Oct; 570(1):153-5. PubMed ID: 26149651
[TBL] [Abstract][Full Text] [Related]
8. Clinical utility gene card for: Johanson-Blizzard syndrome.
Sukalo M; Mayerle J; Zenker M
Eur J Hum Genet; 2014 Jan; 22(1):. PubMed ID: 23652379
[No Abstract] [Full Text] [Related]
9. Johanson-Blizzard syndrome.
Ramos S; Ramos HF; Ramos RF; Peixoto CA; Ramos BF
Braz J Otorhinolaryngol; 2010; 76(6):794. PubMed ID: 21180950
[No Abstract] [Full Text] [Related]
10. Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.
Ellery KM; Erdman SH
JOP; 2014 Jul; 15(4):388-90. PubMed ID: 25076350
[TBL] [Abstract][Full Text] [Related]
11. Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.
Singh A; Chaudhary N; Dhingra D; Sukalo M; Zenker M; Kapoor S
Indian J Gastroenterol; 2014 Jan; 33(1):82-4. PubMed ID: 24052374
[TBL] [Abstract][Full Text] [Related]
12. 50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.
Wild KT; Krantz ID
J Pediatr; 2021 Dec; 239():49. PubMed ID: 34794643
[No Abstract] [Full Text] [Related]
13. [Report of a case with Johanson-Blizzard syndrome and literatures review].
Liu ZF; Zhang ZH; Li M; Jin Y; Lian M; Tang WW
Zhonghua Er Ke Za Zhi; 2011 Jan; 49(1):66-9. PubMed ID: 21429315
[TBL] [Abstract][Full Text] [Related]
14. Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR; Zapata-Aldana E; Bobadilla-Morales L; Corona-Rivera A; Peña-Padilla C; Solis-Hernández E; Guzmán C; Richmond E; Zahl C; Zenker M; Sukalo M
Am J Med Genet A; 2016 Jun; 170(6):1495-501. PubMed ID: 26989884
[TBL] [Abstract][Full Text] [Related]
15. Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.
Liu S; Wang Z; Jiang J; Luo X; Hong Q; Zhang Y; OuYang H; Wei S; Liang J; Chen N; Zeng W
Pancreatology; 2020 Apr; 20(3):562-568. PubMed ID: 31980351
[TBL] [Abstract][Full Text] [Related]
16. Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Sukalo M; Schäflein E; Schanze I; Everman DB; Rezaei N; Argente J; Lorda-Sanchez I; Deshpande C; Takahashi T; Kleger A; Zenker M
Mol Genet Genomic Med; 2017 Nov; 5(6):774-780. PubMed ID: 29178640
[TBL] [Abstract][Full Text] [Related]
17. Johanson-Blizzard syndrome: dental findings and management.
Santhosh BP; Jethmalani P
J Contemp Dent Pract; 2013 May; 14(3):544-7. PubMed ID: 24172004
[TBL] [Abstract][Full Text] [Related]
18. Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
Fallahi GH; Sabbaghian M; Khalili M; Parvaneh N; Zenker M; Rezaei N
Eur J Pediatr; 2011 Feb; 170(2):233-5. PubMed ID: 20556423
[TBL] [Abstract][Full Text] [Related]
19. Johanson-Blizzard syndrome.
Almashraki N; Abdulnabee MZ; Sukalo M; Alrajoudi A; Sharafadeen I; Zenker M
World J Gastroenterol; 2011 Oct; 17(37):4247-50. PubMed ID: 22072859
[TBL] [Abstract][Full Text] [Related]
20. Eponym: Johanson-Blizzard syndrome.
Rezaei N; Sabbaghian M; Liu Z; Zenker M
Eur J Pediatr; 2011 Feb; 170(2):179-83. PubMed ID: 20556422
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
