175 related articles for article (PubMed ID: 10423811)
1. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.
Auslander R; Nevo O; Diukman R; Morrad E; Bardicef M; Abramovici H
Ultrasound Obstet Gynecol; 1999 Jun; 13(6):450-2. PubMed ID: 10423811
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. 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]
5. 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]
6. 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]
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. 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]
9. Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome.
Vanlieferinghen P; Gallot D; Francannet Ch; Meyer F; Dechelotte P
Genet Couns; 2003; 14(1):105-7. PubMed ID: 12725595
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness].
Rosanowski F; Hoppe U; Hies T; Eysholdt U
HNO; 1998 Oct; 46(10):876-8. PubMed ID: 9846268
[TBL] [Abstract][Full Text] [Related]
12. Johanson-Blizzard syndrome. a new case with autopsy findings.
Vanlieferinghen PH; Borderon C; Francannet CH; Gembara P; Dechelotte P
Genet Couns; 2001; 12(3):245-50. PubMed ID: 11693787
[TBL] [Abstract][Full Text] [Related]
13. Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.
Quaio CR; Koda YK; Bertola DR; Sukalo M; Zenker M; Kim CA
Genet Mol Res; 2014 Jun; 13(2):4159-64. PubMed ID: 25036160
[TBL] [Abstract][Full Text] [Related]
14. Johanson-Blizzard syndrome in a large inbred kindred with three involved members.
Mardini MK; Ghandour M; Sakati NA; Nyhan WL
Clin Genet; 1978 Nov; 14(5):247-50. PubMed ID: 709902
[TBL] [Abstract][Full Text] [Related]
15. [Johanson-Blizzard syndrome: a case report].
Mcheik JN; Hendiri L; Vabres P; Berthier M; Cardona J; Bonneau D; Levard G
Arch Pediatr; 2002 Nov; 9(11):1163-5. PubMed ID: 12503509
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M; Fiedler A; Guzmán C; Spranger S; Addor MC; McHeik JN; Oltra Benavent M; Cobben JM; Gillis LA; Shealy AG; Deshpande C; Bozorgmehr B; Everman DB; Stattin EL; Liebelt J; Keller KM; Bertola DR; van Karnebeek CD; Bergmann C; Liu Z; Düker G; Rezaei N; Alkuraya FS; Oğur G; Alrajoudi A; Venegas-Vega CA; Verbeek NE; Richmond EJ; Kirbiyik O; Ranganath P; Singh A; Godbole K; Ali FA; Alves C; Mayerle J; Lerch MM; Witt H; Zenker M
Hum Mutat; 2014 May; 35(5):521-31. PubMed ID: 24599544
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.
Isa HM; Khudhair ZA; Abdulla KM; Idrees ZA; Busehail MY; Jawad ZA
Cureus; 2024 Mar; 16(3):e55969. PubMed ID: 38606259
[TBL] [Abstract][Full Text] [Related]
19. Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.
Takahashi T; Fujishima M; Tsuchida S; Enoki M; Takada G
J Pediatr Endocrinol Metab; 2004 Aug; 17(8):1141-4. PubMed ID: 15379429
[TBL] [Abstract][Full Text] [Related]
20. First-trimester diagnosis of imperforate anus.
Taipale P; Rovamo L; Hiilesmaa V
Ultrasound Obstet Gynecol; 2005 Feb; 25(2):187-8. PubMed ID: 15685665
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]