Research & Literature

Increase in acetyl CoA synthetase activity after phenobarbital treatment.

Akamatsu N, Nakajima H, Ono M, Miura Y

Biochemical pharmacology 1975; (24(18)):1725-7 doi:10.1016/0006-2952(75)90013-1.

The effect of o-salicylate upon pentose phosphate pathway activity in normal and G6PD-deficient red cells.

Worathumrong N, Grimes AJ

British journal of haematology 1975; (30(2)):225-31 doi:10.1111/j.1365-2141.1975.tb00536.x.

Small supernumerary marker chromosomes and their correlation with specific syndromes.

Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, et al.

Advanced biomedical research 2015; (4()):140 doi:10.4103/2277-9175.161542.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Jedraszak G, Braun K, Receveur A, et al.

Annales d'endocrinologie 2015; (76(5)):629-34.

The long term outcome of micturition, defecation and sexual function after spinal surgery for cauda equina syndrome.

Korse NS, Veldman AB, Peul WC, Vleggeert-Lankamp CLA

PloS one 2017; (12(4)):e0175987 doi:10.1371/journal.pone.0175987.

Congenital diaphragmatic hernia in a case of Cat eye syndrome.

Alsat EA, Reutter H, Bagci S, et al.

Clinical case reports 2018; (6(9)):1786-1790 doi:10.1002/ccr3.1646.

ADA2 deficiency due to a novel structural variation in 22q11.1.

Grossi A, Cusano R, Rusmini M, et al.

Clinical genetics 2019; (95(6)):732-733 doi:10.1111/cge.13518.

[Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome].

Wu X, An G, He D, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(5)):498-501 doi:10.3760/cma.j.issn.1003-9406.2019.05.021.

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.

Vorsanova SG, Yurov YB, Iourov IY

Molecular cytogenetics 2020; (13()):16 doi:10.1186/s13039-020-00488-0.

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.

Katz B, Enright J, Couch S, et al.

Ophthalmic genetics 2020; (41(6)):645-649 doi:10.1080/13816810.2020.1814346.

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis.

Xue H, Chen X, Lin M, et al.

Aging 2020; (13(2)):2135-2148 doi:10.18632/aging.202220.

Mosaic cat eye syndrome in a child with unilateral iris coloboma.

Hernández-Medrano C, Hidalgo-Bravo A, Villanueva-Mendoza C, et al.

Ophthalmic genetics 2021; (42(1)):84-87 doi:10.1080/13816810.2020.1839918.

Patient-Reported Bladder, Bowel, and Sexual Function After Cauda Equina Syndrome Secondary to a Herniated Lumbar Intervertebral Disc.

Lam J, deSouza RM, Laycock J, et al.

Topics in spinal cord injury rehabilitation 2020; (26(4)):290-303 doi:10.46292/sci19-00065.

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

Williams JL, McDonald MT, Seifert BA, et al.

Journal of pediatric genetics 2021; (10(1)):35-38 doi:10.1055/s-0039-1701020.

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.

Li J, Zhang Y, Diao Y, et al.

Case reports in genetics 2021; (2021()):8824184 doi:10.1155/2021/8824184.

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

Glaeser AB, Diniz BL, Santos AS, et al.

European journal of medical genetics 2021; (64(11)):104319 doi:10.1016/j.ejmg.2021.104319.

22q11.2 duplications: Expanding the clinical presentation.

Bartik LE, Hughes SS, Tracy M, et al.

American journal of medical genetics. Part A 2022; (188(3)):779-787 doi:10.1002/ajmg.a.62577.

Cat-Eye Syndrome: A Report of Two Cases and Literature Review.

Gaspar NS, Rocha G, Grangeia A, Soares HC

Cureus 2022; (14(6)):e26316 doi:10.7759/cureus.26316.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Serra G, Giambrone C, Antona V, et al.

Italian journal of pediatrics 2022; (48(1)):170 doi:10.1186/s13052-022-01365-9.

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.

Lu Y, Shen L, Zheng Y, et al.

Frontiers in pediatrics 2023; (11()):1145183 doi:10.3389/fped.2023.1145183.

Cat Eye Syndrome with a Unique Liver and Dermatological Presentation.

Mansur M, Jacob TJ, Wong H, Tarascin I

Cureus 2023; (15(4)):e37142 doi:10.7759/cureus.37142.

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.

Wang Y, Zhang P, Chai Y, Zang W

Molecular cytogenetics 2023; (16(1)):28 doi:10.1186/s13039-023-00660-2.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Jedraszak G, Jobic F, Receveur A, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63476 doi:10.1002/ajmg.a.63476.

Mortality in Patients with 22q11.2 Rearrangements.

Cilio Arroyuelo M, Tenorio-Castano J, García-Moya LF, et al.

Genes 2024; (15(9)) doi:10.3390/genes15091146.

Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.

Xu L, Cheng X, Tang L, et al.

BMC pediatrics 2024; (24(1)):658 doi:10.1186/s12887-024-05136-9.