Research & Literature

Role of tissue characterization by Cardiac Magnetic Resonance in the diagnosis of constrictive pericarditis.

Aquaro GD, Barison A, Cagnolo A, et al.

The international journal of cardiovascular imaging 2015; (31(5)):1021-31 doi:10.1007/s10554-015-0648-4.

Preparing Children for Court: Effects of a Model Court Education Program on Children's Anticipatory Anxiety.

Nathanson R, Saywitz KJ

Behavioral sciences & the law 2015; (33(4)):459-75 doi:10.1002/bsl.2191.

Report of two Syrian siblings with Mulibrey nanism.

Al Saadi T, Alkhatib M, Turk T, et al.

Oxford medical case reports 2015; (2015(12)):367-70 doi:10.1093/omcr/omv065.

[Work-up and management of constrictive pericarditis: a critical review].

Pinamonti B, Habjan S, De Luca A, et al.

Giornale italiano di cardiologia (2006) 2016; (17(3)):197-207 doi:10.1714/2190.23662.

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.

Kettunen KM, Karikoski R, Hämäläinen RH, et al.

Biology open 2016; (5(5)):584-95 doi:10.1242/bio.016246.

A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism.

Baczewski K, Czajkowski M, Olszewski K, et al.

Kardiologia polska 2016; (74(2)):192 doi:10.5603/KP.2016.0021.

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Gripp KW, Baker L, Kandula V, et al.

American journal of medical genetics. Part A 2016; (170(10)):2559-69 doi:10.1002/ajmg.a.37758.

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Mozzillo E, Cozzolino C, Genesio R, et al.

American journal of medical genetics. Part A 2016; (170(8)):2196-9 doi:10.1002/ajmg.a.37770.

Maternal Anxiety and Children's Laboratory Pain: The Mediating Role of Solicitousness.

Evans S, Payne LA, Seidman L, et al.

Children (Basel, Switzerland) 2016; (3(2)).

Renal findings in patients with Mulibrey nanism.

Sivunen J, Karlberg S, Lohi J, et al.

Pediatric nephrology (Berlin, Germany) 2017; (32(9)):1531-1536 doi:10.1007/s00467-017-3669-5.

Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.

Davarpasand T, Sotoudeh Anvari M, Naderan M, et al.

The journal of Tehran Heart Center 2016; (11(4)):187-191.

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer R, Soellner L, Begemann M, et al.

The Journal of pediatrics 2017; (187()):206-212.e1 doi:10.1016/j.jpeds.2017.04.018.

TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.

Wang W, Xia ZJ, Farré JC, Subramani S

The Journal of cell biology 2017; (216(9)):2843-2858 doi:10.1083/jcb.201611170.

Self-Compassion, Coping Strategies, and Caregiver Burden in Caregivers of People with Dementia.

Lloyd J, Muers J, Patterson TG, Marczak M

Clinical gerontologist 2019; (42(1)):47-59 doi:10.1080/07317115.2018.1461162.

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.

Yasuhara J, Omori S, Maeda J, et al.

The Canadian journal of cardiology 2018; (34(5)):690.e5-690.e8 doi:10.1016/j.cjca.2018.02.008.

Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.

Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M

Human reproduction (Oxford, England) 2018; (33(7)):1254-1261 doi:10.1093/humrep/dey103.

TRIM37 deficiency induces autophagy through deregulating the MTORC1-TFEB axis.

Wang W, Xia Z, Farré JC, Subramani S

Autophagy 2018; (14(9)):1574-1585 doi:10.1080/15548627.2018.1463120.

Comparing the effect of patients preferred music and Swedish massage on anticipatory anxiety in patients with burn injury: Randomized controlled clinical trial.

Najafi Ghezeljeh T, Mohaddes Ardebili F

Complementary therapies in clinical practice 2018; (32()):55-60 doi:10.1016/j.ctcp.2018.05.002.

TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.

Brigant B, Metzinger-Le Meuth V, Rochette J, Metzinger L

International journal of molecular sciences 2018; (20(1)) doi:10.3390/ijms20010067.

Mulibrey Nanism Syndrome: A Case for Heart Transplantation.

Anwer M, Bin Mahmood SU, Stawiarski K, et al.

The Annals of thoracic surgery 2020; (109(2)):e115-e117 doi:10.1016/j.athoracsur.2019.05.021.

Comprehensive review of pericardial diseases using different imaging modalities.

Fadl SA, Nasrullah A, Harris A, et al.

The international journal of cardiovascular imaging 2020; (36(5)):947-969 doi:10.1007/s10554-020-01784-x.

TRIM37 is highly expressed during mitosis in CHON-002 chondrocytes cell line and is regulated by miR-223.

Brigant B, Demont Y, Ouled-Haddou H, et al.

Bone 2020; (137()):115393 doi:10.1016/j.bone.2020.115393.

Communication and Team Interactions to Improve Patient Experiences, Quality of Care, and Throughput in MRI.

Ajam AA, Tahir S, Makary MS, et al.

Topics in magnetic resonance imaging : TMRI 2020; (29(3)):131-134 doi:10.1097/RMR.0000000000000242.

CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.

Bruzzaniti S, Cirillo E, Prencipe R, et al.

Frontiers in immunology 2020; (11()):1742 doi:10.3389/fimmu.2020.01742.

TRIM37 prevents formation of centriolar protein assemblies by regulating Centrobin.

Balestra FR, Domínguez-Calvo A, Wolf B, et al.

eLife 2021; (10()).

Premature and Early Menopause in Relation to Cardiovascular Disease.

Schipper I, Louwers YV

Seminars in reproductive medicine 2020; (38(4-05)):270-276 doi:10.1055/s-0040-1722318.

Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.

Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, et al.

International journal of molecular sciences 2021; (22(5)) doi:10.3390/ijms22052594.

TRIM37 prevents formation of condensate-organized ectopic spindle poles to ensure mitotic fidelity.

Meitinger F, Kong D, Ohta M, et al.

The Journal of cell biology 2021; (220(7)) doi:10.1083/jcb.202010180.

Wilms tumor with Mulibrey Nanism: A case report and review of literature.

Upasana K, Thakkar D, Gautam D, et al.

Cancer reports (Hoboken, N.J.) 2022; (5(5)):e1512 doi:10.1002/cnr2.1512.

TRIM37: a critical orchestrator of centrosome function.

Domínguez-Calvo A, Gönczy P, Holland AJ, Balestra FR

Cell cycle (Georgetown, Tex.) 2021; (20(23)):2443-2451 doi:10.1080/15384101.2021.1988289.

Growth Hormone Deficiency and Treatment in Childhood Cancer Survivors.

Pollock NI, Cohen LE

Frontiers in endocrinology 2021; (12()):745932 doi:10.3389/fendo.2021.745932.

Pericardial Constriction and Myocardial Restriction in Pediatric Mulibrey Nanism: A Complex Disease With Diastolic Dysfunction.

Sarkola T, Lipsanen-Nyman M, Jalanko H, Jokinen E

CJC open 2022; (4(1)):28-36 doi:10.1016/j.cjco.2021.08.012.

Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).

Sivunen J, Karlberg S, Kivisaari R, et al.

Liver international : official journal of the International Association for the Study of the Liver 2022; (42(6)):1369-1378 doi:10.1111/liv.15213.

The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.

Cordova Sanchez A, Vasigh M, Carhart R

Journal of investigative medicine high impact case reports 2022; (10()):23247096221077816 doi:10.1177/23247096221077816.

Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.

Boguszewski MCS, Boguszewski CL, Chemaitilly W, et al.

European journal of endocrinology 2022; (186(6)):P35-P52 doi:10.1530/EJE-21-1186.

Clinical Indications for Growth Hormone Therapy.

Danowitz M, Grimberg A

Advances in pediatrics 2022; (69(1)):203-217 doi:10.1016/j.yapd.2022.03.005.

Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.

Zeinaloo AA, Mirzaei Ilali H, Aghaei Moghadam E, et al.

Iranian journal of public health 2022; (51(12)):2826-2830 doi:10.18502/ijph.v51i12.11474.

The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.

Gu W, Zhang J, Li Q, et al.

Cell discovery 2023; (9(1)):82 doi:10.1038/s41421-023-00561-z.

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Gazzin A, Pala F, Bosticardo M, et al.

Frontiers in immunology 2023; (14()):1303251 doi:10.3389/fimmu.2023.1303251.

Reproductive health in Turner's syndrome: from puberty to pregnancy.

Porcu E, Cipriani L, Damiano G

Frontiers in endocrinology 2023; (14()):1269009 doi:10.3389/fendo.2023.1269009.

A proteomic study of the downregulation of TRIM37 on chondrocytes: Implications for the MULIBREY syndrome.

Brigant B, Metzinger-Le Meuth V, Boyartchuk V, et al.

Bone 2024; (187()):117205 doi:10.1016/j.bone.2024.117205.

Mulibrey Nanism: A Case with Heart Failure.

Temizhan AY, Çolakoğlu MN, Kara M, et al.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2024; (52(6)):464-467 doi:10.5543/tkda.2023.95443.

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.

Kalish JM, Becktell KD, Bougeard G, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(23)):5260-5269 doi:10.1158/1078-0432.CCR-24-2100.

Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition.

Kreinbrook JA, Izzo L, Atkins C, Das S

BMJ case reports 2024; (17(10)) doi:10.1136/bcr-2024-261443.

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.

Karlberg S, Toiviainen-Salo S, Lipsanen-Nyman M, Mäkitie O

Clinical genetics 2025; (107(3)):271-277 doi:10.1111/cge.14647.

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

Demir K, Yüksek Acınıklı K

Journal of clinical research in pediatric endocrinology 2025; (17(4)):370-378 doi:10.4274/jcrpe.galenos.2025.2024-9-13.

TRIM37 prevents ectopic spindle pole assembly by peptide motif recognition and substrate-dependent oligomerization.

Bellaart A, Brambila A, Xu J, et al.

Nature structural & molecular biology 2025; (32(9)):1800-1811 doi:10.1038/s41594-025-01562-0.

Transdermal versus oral hormone therapy in premature ovarian insufficiency.

Beitl K, Widmann K, Marculescu R, et al.

Menopause (New York, N.Y.) 2025; (32(10)):913-919 doi:10.1097/GME.0000000000002588.

The moderated mediation effect of caregiving stress and social support in the relationship between behavioral and psychological symptoms of dementia and caregiver burden in Oman: a cross-sectional study.

Al Ghammari A, Guo M, Al Sinawi H, et al.

BMC geriatrics 2025; (26(1)):21 doi:10.1186/s12877-025-06677-z.

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.

Hakonen AH, Karlberg S, Kiiski K, et al.

Journal of medical genetics 2026; (63(5)):308-311 doi:10.1136/jmg-2025-111325.

Pediatric pericardiectomy-a narrative review.

Meshulami N, Kaushik S, Murthy R

Journal of thoracic disease 2026; (18(2)):163 doi:10.21037/jtd-2025-aw-2033.

Novel Missense Variants in TRIM37 Associated with Mulibrey Nanism and Complex Congenital Heart Disease.

Zodanu GKE, Zeigler AC, Mudery J, et al.

Cardiology and cardiovascular medicine 2026; (10(2)):22-33 doi:10.26502/fccm.92920481.