149 related articles for article (PubMed ID: 21180950)
21. Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.
Deutsch CK; Hreczko T; Holmes LB
Birth Defects Res A Clin Mol Teratol; 2013 Mar; 97(3):166-9. PubMed ID: 23463671
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
Hwang CS; Sukalo M; Batygin O; Addor MC; Brunner H; Aytes AP; Mayerle J; Song HK; Varshavsky A; Zenker M
PLoS One; 2011; 6(9):e24925. PubMed ID: 21931868
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
Schoner K; Fritz B; Huelskamp G; Louwen F; Zenker M; Moll R; Rehder H
Pediatr Dev Pathol; 2012; 15(1):50-7. PubMed ID: 21711208
[TBL] [Abstract][Full Text] [Related]
27. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Mor-Shaked H; Salah S; Yanovsky-Dagan S; Meiner V; Atawneh OM; Abu-Libdeh B; Elpeleg O; Harel T
Clin Genet; 2021 Apr; 99(4):577-582. PubMed ID: 33410501
[TBL] [Abstract][Full Text] [Related]
28. Physiological functions and clinical implications of the N-end rule pathway.
Liu Y; Liu C; Dong W; Li W
Front Med; 2016 Sep; 10(3):258-70. PubMed ID: 27492620
[TBL] [Abstract][Full Text] [Related]
29. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Li C; Beauregard-Lacroix E; Kondratev C; Rousseau J; Heo AJ; Neas K; Graham BH; Rosenfeld JA; Bacino CA; Wagner M; Wenzel M; Al Mutairi F; Al Deiab H; Gleeson JG; Stanley V; Zaki MS; Kwon YT; Leroux MR; Campeau PM
Am J Hum Genet; 2021 Jan; 108(1):134-147. PubMed ID: 33340455
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.
Wang X; Li F; Zhao W
J Healthc Eng; 2022; 2022():7414165. PubMed ID: 35222891
[TBL] [Abstract][Full Text] [Related]
32. Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase.
Muñoz-Escobar J; Matta-Camacho E; Cho C; Kozlov G; Gehring K
Structure; 2017 May; 25(5):719-729.e3. PubMed ID: 28392261
[TBL] [Abstract][Full Text] [Related]
33. [Johanson-Blizzard syndrome].
Koizumi T
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):198-200. PubMed ID: 11057194
[No Abstract] [Full Text] [Related]
34. [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]
35. Pancreatic Malnutrition in Children.
Normatov I; Sentongo T
Pediatr Ann; 2019 Nov; 48(11):e441-e447. PubMed ID: 31710363
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.
Johanson A; Blizzard R
J Pediatr; 1971 Dec; 79(6):982-7. PubMed ID: 5171616
[No Abstract] [Full Text] [Related]
38. Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.
Steinbach WJ; Hintz RL
J Pediatr Endocrinol Metab; 2000; 13(9):1633-6. PubMed ID: 11154160
[TBL] [Abstract][Full Text] [Related]
39. The temporal bone in the Johanson-Blizzard syndrome. A CT study.
Braun J; Lerner A; Gershoni-Baruch R
Pediatr Radiol; 1991; 21(8):580-3. PubMed ID: 1815181
[TBL] [Abstract][Full Text] [Related]
40. The Johanson-Blizzard syndrome: case report and autopsy findings.
Daentl DL; Frías JL; Gilbert EF; Opitz JM
Am J Med Genet; 1979; 3(2):129-35. PubMed ID: 474625
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
