Research & Literature

Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.

Mishima T, Watari M, Iwaki Y, et al.

Congenital anomalies 2017; (57(2)):61-63 doi:10.1111/cga.12193.

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Ozyilmaz B, Kirbiyik O, Koc A, et al.

Clinical genetics 2017; (92(4)):372-379 doi:10.1111/cge.12978.

17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.

Barros Fontes MI, Dos Santos AP, Rossi Torres F, et al.

Molecular syndromology 2017; (8(1)):36-41 doi:10.1159/000452753.

Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.

Noor A, Bogatan S, Watkins N, et al.

Clinical genetics 2018; (93(2)):365-367 doi:10.1111/cge.13056.

Identify latent chromosomal aberrations relevant to myelodysplastic syndromes.

Song Q, Chu Y, Yao Y, et al.

Scientific reports 2017; (7(1)):10354 doi:10.1038/s41598-017-10551-3.

Cytogenetic Abnormalities in Myelodysplastic Syndromes: An Overview.

Zahid MF, Malik UA, Sohail M, et al.

International journal of hematology-oncology and stem cell research 2017; (11(3)):231-239.

Management of general anesthesia in a child with Miller-Dieker syndrome: a case report.

Wakiguchi C, Godai K, Mukaihara K, et al.

JA clinical reports 2015; (1(1)):14 doi:10.1186/s40981-015-0017-2.

Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome.

Shoukfeh O, Richards AB, Prouty LA, et al.

Journal of pediatric genetics 2018; (7(2)):86-91 doi:10.1055/s-0037-1612638.

Comprehensive genotype-phenotype correlation in lissencephaly.

Tan AP, Chong WK, Mankad K

Quantitative imaging in medicine and surgery 2018; (8(7)):673-693 doi:10.21037/qims.2018.08.08.

Palliative Care for Children with Central Nervous System Malignancies.

Baenziger PH, Moody K

Bioengineering (Basel, Switzerland) 2018; (5(4)) doi:10.3390/bioengineering5040085.

Symptoms and Concerns Among Children and Young People with Life-Limiting and Life-Threatening Conditions: A Systematic Review Highlighting Meaningful Health Outcomes.

Namisango E, Bristowe K, Allsop MJ, et al.

The patient 2019; (12(1)):15-55 doi:10.1007/s40271-018-0333-5.

[Analysis of chromosomes of embryos derived from translocation carriers during preimplantation genetic diagnosis cycles].

Huang Q, Lin C, Chen Z, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(6)):875-878 doi:10.3760/cma.j.issn.1003-9406.2018.06.024.

Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome.

Marafi D, Suter B, Schultz R, et al.

Neurology 2019; (92(2)):e108-e114 doi:10.1212/WNL.0000000000006742.

Perampanel in lissencephaly-associated epilepsy.

Ikemoto S, Hamano SI, Hirata Y, et al.

Epilepsy & behavior case reports 2019; (11()):67-69 doi:10.1016/j.ebcr.2019.01.001.

Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia.

Chee SY, Guo JW, Huang CJ, et al.

Cytogenetic and genome research 2019; (157(4)):227-230 doi:10.1159/000499956.

Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.

Chai H, Grommisch B, DiAdamo A, et al.

Molecular genetics & genomic medicine 2019; (7(10)):e00965 doi:10.1002/mgg3.965.

Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature.

Chen YC, Huang XN, Kong CY, Hu JD

World journal of clinical cases 2020; (8(1)):222-233 doi:10.12998/wjcc.v8.i1.222.

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Hadj Amor M, Dimassi S, Taj A, et al.

BMC medical genetics 2020; (21(1)):26 doi:10.1186/s12881-020-0966-9.

17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.

Romano C, Ferranti S, Mencarelli MA, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(8)):2259-2262 doi:10.1007/s10072-020-04424-3.

Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.

Tsai MH, Cheng HY, Nian FS, et al.

Acta neuropathologica communications 2020; (8(1)):106 doi:10.1186/s40478-020-00971-0.

In vitro modeling for inherited neurological diseases using induced pluripotent stem cells: from 2D to organoid.

Nam KH, Yi SA, Jang HJ, et al.

Archives of pharmacal research 2020; (43(9)):877-889 doi:10.1007/s12272-020-01260-z.

Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly.

Jauhari P, Farmania R, Chakrabarty B, et al.

Seizure 2020; (83()):175-180 doi:10.1016/j.seizure.2020.10.020.

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (30()):71-81 doi:10.1016/j.ejpn.2020.12.011.

D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.

Shimokawa O, Takeda M, Ohashi H, et al.

Diagnostics (Basel, Switzerland) 2021; (11(2)) doi:10.3390/diagnostics11020337.

What does effective end-of-life care at home for children look like? A qualitative interview study exploring the perspectives of bereaved parents.

Malcolm C, Knighting K

Palliative medicine 2021; (35(8)):1602-1611 doi:10.1177/02692163211023300.

Lissencephaly: Update on diagnostics and clinical management.

Koenig M, Dobyns WB, Di Donato N

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (35()):147-152 doi:10.1016/j.ejpn.2021.09.013.

Development levels of pediatric palliative care teams and the extent of palliative care understanding and implementation among pediatric oncologists in China.

Cai S, Guo Q, Wang X, et al.

Pediatric investigation 2021; (5(4)):265-270 doi:10.1002/ped4.12291.

Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε).

Liu X, Bennison SA, Robinson L, Toyo-Oka K

Brain sciences 2021; (12(1)) doi:10.3390/brainsci12010056.

Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure.

Deodati A, Inzaghi E, Germani D, et al.

Hormone research in paediatrics 2021; (94(11-12)):456-466 doi:10.1159/000521629.

Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.

Zhang YL, Jing XY, Zhen L, et al.

European journal of obstetrics, gynecology, and reproductive biology 2022; (274()):28-32 doi:10.1016/j.ejogrb.2022.04.025.

Central-part laryngectomy after laryngotracheal separation to manage pharyngocutaneous fistula: A case report and retrospective analysis of 12 cases.

Ohara K, Katada A, Kumai T, et al.

Auris, nasus, larynx 2023; (50(4)):628-631 doi:10.1016/j.anl.2022.04.011.

Combining metaphase cytogenetics with single nucleotide polymorphism arrays can improve the diagnostic yield and identify prognosis more precisely in myelodysplastic syndromes.

Qin Y, Zhang H, Feng L, et al.

Annals of medicine 2022; (54(1)):2627-2636 doi:10.1080/07853890.2022.2125173.

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.

Baker EK, Brewer CJ, Ferreira L, et al.

American journal of medical genetics. Part A 2023; (191(2)):526-539 doi:10.1002/ajmg.a.63057.

Lissencephaly with Congenital Hypothyroidism: A Case Report.

Sahani SK, Pathak A, Nepali B, Rai N

JNMA; journal of the Nepal Medical Association 2022; (60(255)):978-981 doi:10.31729/jnma.7893.

Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report.

Park SJ, Baek J, Chun S, Choi EK

Children (Basel, Switzerland) 2023; (10(4)) doi:10.3390/children10040631.

Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.

Cera AJ, Mokha S, Sunderji S, et al.

Pediatric annals 2023; (52(8)):e283-e291 doi:10.3928/19382359-20230613-02.

The impact of specialized pediatric palliative care on advance care planning and healthcare utilization in children and young adults: a retrospective analysis of medical records of in-hospital deaths.

Kim CH, Lee J, Lee JW, Kim MS

BMC palliative care 2024; (23(1)):127 doi:10.1186/s12904-024-01448-w.

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.

Alsafh R, Alhashem A, Elsyed A, et al.

Neurology. Genetics 2024; (10(4)):e200172 doi:10.1212/NXG.0000000000200172.

Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome.

Mahendran G, Breger K, McCown PJ, et al.

Molecular neurobiology 2025; (62(4)):5073-5094 doi:10.1007/s12035-024-04532-7.

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

Kim SY, Wohler E, Gutierrez MJ, et al.

American journal of medical genetics. Part A 2025; (197(3)):e63925 doi:10.1002/ajmg.a.63925.

Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.

Chen J, Li XP, Luo GJ, et al.

European journal of medical genetics 2025; (73()):104991 doi:10.1016/j.ejmg.2024.104991.

Addressing Rehabilitation Needs in Pediatric Palliative Care: The Role of Occupational Therapy.

Önal G, Acar S, Ayar G

Physical & occupational therapy in pediatrics 2026; (46(1)):94-114 doi:10.1080/01942638.2025.2555988.

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Watanabe H, Ibi K, Yoneda K, Kakiuchi S

Cureus 2025; (17(9)):e92565 doi:10.7759/cureus.92565.

Bereaved parents' perspectives of factors influencing decision-making about place of end-of-life care for children with life-limiting, life-threatening conditions: an all-Ireland qualitative study.

Crowe A, McCauley R, Corcoran Y, et al.

BMC palliative care 2025; (24(1)):294 doi:10.1186/s12904-025-01922-z.