Research & Literature

Romanian guidelines on the diagnosis and treatment of exocrine pancreatic insufficiency.

Gheorghe C, Seicean A, Saftoiu A, et al.

Journal of gastrointestinal and liver diseases : JGLD 2015; (24(1)):117-23 doi:10.15403/jgld.2014.1121.app.

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Atik T, Karakoyun M, Sukalo M, et al.

Gene 2015; (570(1)):153-5.

Oblique facial clefts in Johanson-Blizzard syndrome.

Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, et al.

American journal of medical genetics. Part A 2016; (170(6)):1495-501 doi:10.1002/ajmg.a.37630.

A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.

Jafari SA, Moghaddar R, Bahadoram M, et al.

Journal of clinical and diagnostic research : JCDR 2016; (10(8)):SD01-3 doi:10.7860/JCDR/2016/17692.8307.

Pancreatic enzyme replacement therapy for people with cystic fibrosis.

Somaraju UR, Solis-Moya A

The Cochrane database of systematic reviews 2016; (11()):CD008227 doi:10.1002/14651858.CD008227.pub3.

Qualitative Assessment of the Symptoms and Impact of Pancreatic Exocrine Insufficiency (PEI) to Inform the Development of a Patient-Reported Outcome (PRO) Instrument.

Johnson CD, Arbuckle R, Bonner N, et al.

The patient 2017; (10(5)):615-628 doi:10.1007/s40271-017-0233-0.

Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase.

Muñoz-Escobar J, Matta-Camacho E, Cho C, et al.

Structure (London, England : 1993) 2017; (25(5)):719-729.e3 doi:10.1016/j.str.2017.03.004.

Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.

Holcomb MA, Rizk HG, Morris NS, Meyer TA

International journal of pediatric otorhinolaryngology 2017; (95()):69-71 doi:10.1016/j.ijporl.2017.02.001.

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, et al.

Molecular genetics & genomic medicine 2017; (5(6)):774-780 doi:10.1002/mgg3.319.

A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

Civelek Z, Urganci N, Usta M, Celik M

JPMA. The Journal of the Pakistan Medical Association 2018; (68(5)):801-803.

Johanson-Blizzard syndrome with associated urogenital anomalies.

Sood A, Jamzadeh A, Chowdhury M, Lakshmanan Y

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225336.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center.

Ye Z, Zhou Y, Huang Y, et al.

Pancreas 2018; (47(10)):1344-1349 doi:10.1097/MPA.0000000000001185.

Bruising as the first sign of exocrine pancreatic insufficiency in infancy.

Szabo CE, Man OI, Şerban RS, et al.

Medicine and pharmacy reports 2019; (92(2)):200-204 doi:10.15386/mpr-1231.

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, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020; (20(3)):562-568 doi:10.1016/j.pan.2020.01.007.

Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism.

Ros-Pérez P, Golmayo L, Cilleruelo ML, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(7)):947-950.

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, et al.

Clinical genetics 2021; (99(4)):577-582 doi:10.1111/cge.13920.

Loss of protein quality control gene UBR1 sensitizes Saccharomyces cerevisiae to the aminoglycoside hygromycin B.

Runnebohm AM, Evans MD, Richardson AE, et al.

Fine focus 2020; (6(1)):76-83 doi:10.33043/FF.6.1.76-83.

Endocrine dysfunction in children with Shwachman-Diamond syndrome.

Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, et al.

Endokrynologia Polska 2021; (72(3)):211-216 doi:10.5603/EP.a2021.0014.

Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.

Kolemen AB, Akyuz E, Toprak A, et al.

Orphanet journal of rare diseases 2021; (16(1)):402 doi:10.1186/s13023-021-02046-2.

Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation.

Alwadee RM, Alyousef MY, Yousef EM, Yousef MF

Cureus 2021; (13(11)):e19264 doi:10.7759/cureus.19264.

Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

Raza AF, Paudel DR, Nisha KV

Journal of audiology & otology 2022; (26(3)):160-165 doi:10.7874/jao.2021.00444.

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

Journal of healthcare engineering 2022; (2022()):7414165 doi:10.1155/2022/7414165.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, et al.

Pediatric research 2022; (92(6)):1671-1680 doi:10.1038/s41390-022-02009-8.

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Demir D, Kendir Demirkol Y, Gerenli N, Aktaş Karabay E

Journal of pediatric genetics 2022; (11(2)):147-150 doi:10.1055/s-0040-1716331.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

[Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].

Fu X, Zhang L, Wei X, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(12)):1379-1384 doi:10.3760/cma.j.cn511374-20211015-00816.

Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.

Ritivoiu ME, Drăgoi CM, Matei D, et al.

Pharmaceutics 2023; (15(1)) doi:10.3390/pharmaceutics15010162.

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

Yuzyuk TN, Nelson HA, Johnson LM

Critical reviews in clinical laboratory sciences 2023; (60(5)):366-381 doi:10.1080/10408363.2023.2179968.

Emotional experiences of family caregivers of children with Dravet syndrome.

Domaradzki J, Walkowiak D

Epilepsy & behavior : E&B 2023; (142()):109193 doi:10.1016/j.yebeh.2023.109193.

Nutrition in children with exocrine pancreatic insufficiency.

Zheng Y, Mostamand S

Frontiers in pediatrics 2023; (11()):943649 doi:10.3389/fped.2023.943649.

Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

Sankararaman S, Schindler T

Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

Isa HM, Khudhair ZA, Abdulla KM, et al.

Cureus 2024; (16(3)):e55969 doi:10.7759/cureus.55969.

Johanson-Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients.

Noli K, Aleysae N, Alzahrani I, et al.

JPGN reports 2024; (5(2)):140-147 doi:10.1002/jpr3.12057.

AGA-PancreasFest Joint Symposium on Exocrine Pancreatic Insufficiency.

Whitcomb DC, Duggan SN, Martindale R, et al.

Gastro hep advances 2023; (2(3)):395-411 doi:10.1016/j.gastha.2022.11.008.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Mangali NP, Antony A, Kumar N

Pediatric radiology 2025; (55(1)):195-200 doi:10.1007/s00247-024-06118-w.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Strych L, Zavoral T, Komrskova P, et al.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2025; (169(2)):98-106 doi:10.5507/bp.2025.005.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study.

Low KJ, , Treneman-Evans G, et al.

Health expectations : an international journal of public participation in health care and health policy 2025; (28(4)):e70340 doi:10.1111/hex.70340.

Variable Expressivity in Johanson-Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature.

Ktyman H, Chaker D, Ahmad H, et al.

JGH open : an open access journal of gastroenterology and hepatology 2025; (9(8)):e70236 doi:10.1002/jgh3.70236.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

Abukammas SJ, Abdelgalil A, Shazly MA, et al.

Cureus 2026; (18(2)):e103579 doi:10.7759/cureus.103579.