Research & Literature

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Barber JC, Rosenfeld JA, Graham JM, et al.

American journal of medical genetics. Part A 2015; (167A(9)):2052-64 doi:10.1002/ajmg.a.37120.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

Yuan H, Meng Z, Zhang L, et al.

Molecular cytogenetics 2016; (9()):2 doi:10.1186/s13039-016-0214-3.

Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review.

Delisle VC, Gumuchian ST, Rice DB, et al.

The patient 2017; (10(3)):283-293 doi:10.1007/s40271-016-0213-9.

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Liang L, Xie Y, Shen Y, et al.

Cytogenetic and genome research 2016; (150(2)):112-117 doi:10.1159/000454698.

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

Knijnenburg J, Uytdewilligen MEW, van Hassel DACM, et al.

European journal of medical genetics 2017; (60(9)):445-450 doi:10.1016/j.ejmg.2017.06.003.

Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis.

Afouda BA, Lynch AT, de Paiva Alves E, Hoppler S

Developmental biology 2018; (434(1)):108-120 doi:10.1016/j.ydbio.2017.11.017.

GATA4 Loss-of-Function Mutation and the Congenitally Bicuspid Aortic Valve.

Li RG, Xu YJ, Wang J, et al.

The American journal of cardiology 2018; (121(4)):469-474 doi:10.1016/j.amjcard.2017.11.012.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil.

Iriart JAB, Nucci MF, Muniz TP, et al.

Ciencia & saude coletiva 2019; (24(10)):3637-3650 doi:10.1590/1413-812320182410.01612019.

Rare diseases and the associative dialogue: resignifications for moral experiences.

Moreira MCN, Nascimento MAFD, Campos DS, et al.

Ciencia & saude coletiva 2019; (24(10)):3673-3682 doi:10.1590/1413-812320182410.11822019.

Surgical management of caudal duplication syndrome: A rare entity with a centered approach on quality of life.

de Oliveira A, Nascimento C, Ramos D, Matushita H

Surgical neurology international 2019; (10()):181 doi:10.25259/SNI_206_2019.

[Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion].

Feng Q, Xie J, Liu Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(1)):44-47 doi:10.3760/cma.j.issn.1003-9406.2020.01.012.

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review.

Gug C, Stoicanescu D, Mozos I, et al.

Frontiers in pediatrics 2020; (8()):375 doi:10.3389/fped.2020.00375.

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.

Shi P, Wang C, Zheng Y, Kong X

BMC medical genomics 2021; (14(1)):88 doi:10.1186/s12920-021-00940-z.

Fibroblast GATA-4 and GATA-6 promote myocardial adaptation to pressure overload by enhancing cardiac angiogenesis.

Dittrich GM, Froese N, Wang X, et al.

Basic research in cardiology 2021; (116(1)):26 doi:10.1007/s00395-021-00862-y.

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Kouri C, Sommer G, Flück CE

Hormone research in paediatrics 2023; (96(2)):169-179 doi:10.1159/000519691.

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.

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.

Dallali H, Kheriji N, Kammoun W, et al.

Frontiers in genetics 2021; (12()):664963 doi:10.3389/fgene.2021.664963.

Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.

Li B, Li Z, Yang J, et al.

Molecular genetics and genomics : MGG 2022; (297(3)):671-687 doi:10.1007/s00438-022-01859-5.

Towards Understanding the Gene-Specific Roles of GATA Factors in Heart Development: Does GATA4 Lead the Way?

Afouda BA

International journal of molecular sciences 2022; (23(9)) doi:10.3390/ijms23095255.

5p13 microduplication in a malformed fetus and his unaffected father.

Kariminejad A, Ghaderi-Sohi S, Gholami S, et al.

American journal of medical genetics. Part A 2023; (191(2)):370-377 doi:10.1002/ajmg.a.63030.

[Diagnostic delay in rare diseases: between fear and resilience].

Páramo-Rodríguez L, Cavero-Carbonell C, Guardiola-Vilarroig S, et al.

Gaceta sanitaria 2023; (37()):102272 doi:10.1016/j.gaceta.2022.102272.

Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele.

Hicks MA, Ebrahim S, Gonik B

Case reports in genetics 2023; (2023()):5958223 doi:10.1155/2023/5958223.

Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

El Karaaoui A, Ghazeeri G, Assaf N

Heliyon 2023; (9(4)):e15515 doi:10.1016/j.heliyon.2023.e15515.

Characterization of speech and language phenotype in the 8p23.1 syndrome.

Karsan Ç, Ocak F, Bulut T

European child & adolescent psychiatry 2024; (33(10)):3671-3678 doi:10.1007/s00787-024-02448-0.

Exploring the role of digital tools in rare disease management: An interview-based study.

Chang A, Huang SD, Benjamin DJ, et al.

Journal of genetic counseling 2025; (34(1)):e1908 doi:10.1002/jgc4.1908.

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.