Research & Literature

Extracorporeal cardiopulmonary resuscitation for breath-holding spells followed by cardiac arrest due to left main coronary artery stenosis.

Ozyilmaz I, Altin HF, Yildiz O, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2015; (57(3)):468-71 doi:10.1111/ped.12512.

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Honjo RS, Dutra RL, Furusawa EA, et al.

BioMed research international 2015; (2015()):903175 doi:10.1155/2015/903175.

Oral findings and dental treatment in a child with Williams-Beuren syndrome.

Torres CP, Valadares G, Martins MI, et al.

Brazilian dental journal 2015; (26(3)):312-6.

[Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].

Jin Y, Liu X, Li S, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015; (32(4)):529-32 doi:10.3760/cma.j.issn.1003-9406.2015.04.018.

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB

American journal of medical genetics. Part A 2015; (167A(12)):3108-12 doi:10.1002/ajmg.a.37288.

ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME.

Kuehlewein L, Sadda SR

Retinal cases & brief reports 2015; (9(4)):298-301 doi:10.1097/ICB.0000000000000196.

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Sharma P, Gupta N, Chowdhury MR, et al.

Cytogenetic and genome research 2015; (146(3)):187-94 doi:10.1159/000439205.

Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review.

Matisoff AJ, Olivieri L, Schwartz JM, Deutsch N

Paediatric anaesthesia 2015; (25(12)):1207-15 doi:10.1111/pan.12775.

[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].

Liu Y, Xu ZY, Wu WQ, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015; (17(12)):1267-72.

Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso.

Barro M, Sanogo B, Kissou AS, et al.

Pediatric reports 2015; (7(4)):5817 doi:10.4081/pr.2015.5817.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

Copes LE, Pober BR, Terilli CA

Clinical anatomy (New York, N.Y.) 2016; (29(5)):578-89 doi:10.1002/ca.22685.

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

Abidi K, Jellouli M, Ben Rabeh R, et al.

The Pan African medical journal 2015; (22()):276 doi:10.11604/pamj.2015.22.276.7929.

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.

Li L, Huang L, Luo Y, et al.

Molecular syndromology 2016; (6(6)):268-75 doi:10.1159/000443942.

Endocrine dysfunctions in children with Williams-Beuren syndrome.

Kim YM, Cho JH, Kang E, et al.

Annals of pediatric endocrinology & metabolism 2016; (21(1)):15-20 doi:10.6065/apem.2016.21.1.15.

Williams-Beuren syndrome--a rare cause of recurrent hemoptysis.

Botnaru V, Rusu D, Munteanu O

Pneumologia (Bucharest, Romania) 2016; (65(1)):39-44.

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

Abbas E, Cox DM, Smith T, Butler MG

Journal of pediatric genetics 2016; (5(3)):129-40 doi:10.1055/s-0036-1584361.

Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up.

Güven A

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(2)):159-165.

Stewarding Hope: The Evolving Landscape of Huntington's Disease Science Communications.

Yohrling GJ, Vetter LA

Journal of Huntington's disease 2017; (6(1)):33-35 doi:10.3233/JHD-160230.

Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy.

Kalis NN, Sulaibikh LK, Al Amer SR, Al Amer HY

Heart views : the official journal of the Gulf Heart Association 2017; (18(1)):21-25 doi:10.4103/1995-705X.206205.

Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years.

Yamaguchi T, Shirota T, Adel M, et al.

Case reports in dentistry 2017; (2017()):7019045 doi:10.1155/2017/7019045.

A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family.

Dai XY, Zhou L, Liu Y, Xie JS

Clinical laboratory 2017; (63(9)):1501-1506 doi:10.7754/Clin.Lab.2017.170220.

Oral findings in Williams-Beuren syndrome.

Ferreira SB, Viana MM, Maia NG, et al.

Medicina oral, patologia oral y cirugia bucal 2018; (23(1)):e1-e6 doi:10.4317/medoral.21834.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Hayano S, Okuno Y, Tsutsumi M, et al.

International journal of cardiology 2019; (274()):290-295 doi:10.1016/j.ijcard.2018.09.032.

Oral prednisolone for management of persistent hypercalcemia afterhypercalcemic crisis in the Williams-Beuren syndrome.

Varma TH, Sahitya DSK, Dusad S, et al.

Pediatric endocrinology, diabetes, and metabolism 2018; (24(2)):106-109 doi:10.18544/PEDM-24.02.0109.

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome.

Baştuğ F, Nalçacıoğlu H, Baş VN, et al.

The Turkish journal of pediatrics 2018; (60(2)):210-215.

Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.

Xia Y, Huang S, Wu Y, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00517 doi:10.1002/mgg3.517.

Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome.

Furusawa EA, Esposito CSL, Honjo RS, et al.

Revista da Associacao Medica Brasileira (1992) 2018; (64(8)):723-728 doi:10.1590/1806-9282.64.08.723.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Masson J, Demily C, Chatron N, et al.

Orphanet journal of rare diseases 2019; (14(1)):121 doi:10.1186/s13023-019-1094-5.

Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.

Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, et al.

Journal of genetics 2019; (98(2)).

Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.

Kuo HT, Chen CH, Lin CY, et al.

Cytogenetic and genome research 2019; (159(4)):182-189 doi:10.1159/000505282.

Lacrimal drainage system anomalies in Williams-Beuren syndrome.

Ali MJ

Orbit (Amsterdam, Netherlands) 2021; (40(2)):159-161 doi:10.1080/01676830.2020.1755317.

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.

Min S, Kinnear C, D'Alessandro LCA, et al.

Circulation. Genomic and precision medicine 2020; (13(6)):e002971 doi:10.1161/CIRCGEN.120.002971.

An Unusual Urological Manifestation of Williams-Beuren Syndrome: Posterior Urethral Valve.

Demirkan H

Urologia internationalis 2021; (105(1-2)):159-162 doi:10.1159/000510529.

TFII-I/Gtf2i and Erythro-Megakaryopoiesis.

Gurumurthy A, Wu Q, Nar R, et al.

Frontiers in physiology 2020; (11()):590180 doi:10.3389/fphys.2020.590180.

Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study.

Alfieri P, Scibelli F, Digilio MC, et al.

Autism research : official journal of the International Society for Autism Research 2021; (14(4)):748-758 doi:10.1002/aur.2455.

Multiple bladder diverticula with Williams-Beuren syndrome: a case report.

Chen J, Mao J, Ye L, et al.

Translational pediatrics 2020; (9(6)):863-866 doi:10.21037/tp-20-311.

Left Ventricular Outflow Tract Gradient Is Associated With Coronary Artery Obstruction in Children With Williams-Beuren Syndrome.

Tan AYJ, Quiat D, Ghelani SJ, Yuki K

Journal of cardiothoracic and vascular anesthesia 2021; (35(12)):3677-3680 doi:10.1053/j.jvca.2020.12.050.

Clinical and genetic characteristics of two cases with Williams-Beuren syndrome.

Wang LX, Leng J, Li ZH, et al.

Translational pediatrics 2021; (10(6)):1743-1747 doi:10.21037/tp-21-161.

Determination of craniofacial and dental characteristics of individuals with Williams-Beuren syndrome by using 3D facial scans and radiographs.

Danneels F, Verdonck A, Indencleef K, et al.

Orthodontics & craniofacial research 2022; (25(3)):359-367 doi:10.1111/ocr.12541.

Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.

Honjo RS, Monteleone VF, Aiello VD, et al.

American journal of medical genetics. Part A 2022; (188(2)):676-682 doi:10.1002/ajmg.a.62542.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.

Pires LVL, Ribeiro RL, Sousa AM, et al.

Arquivos de neuro-psiquiatria 2021; (79(11)):950-956 doi:10.1590/0004-282X-ANP-2020-0450.

A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation.

Alfieri P, Scibelli F, Montanaro FAM, et al.

Frontiers in psychiatry 2022; (13()):863909 doi:10.3389/fpsyt.2022.863909.

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.

Huryn LA, Flaherty T, Nolen R, et al.

The British journal of ophthalmology 2023; (107(10)):1554-1559 doi:10.1136/bjophthalmol-2022-321103.

Surgical Treatment of Adult Williams-Beuren Syndrome with Pulmonary Arteriovenous Fistula.

Zhang X, Wang S, Huang G

The heart surgery forum 2022; (25(3)):E381-E384 doi:10.1532/hsf.4627.

Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice.

Davenport CM, Teubner BJW, Han SB, et al.

Cell 2022; (185(21)):3877-3895.e21 doi:10.1016/j.cell.2022.08.022.

Atrial septal defect in a pediatric patient with Williams Syndrome: a rare presentation.

Grajeda J, Mubarak AN, Ardebol J, Grajeda G

Journal of surgical case reports 2022; (2022(11)):rjac527 doi:10.1093/jscr/rjac527.

Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & Echocardiographic illustrations.

Das D, Makhija N

Annals of cardiac anaesthesia 2023; (26(1)):94-96 doi:10.4103/aca.aca_122_21.

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.

Lühmann JL, Schmidt G, Auber B, et al.

American journal of medical genetics. Part A 2023; (191(7)):1849-1857 doi:10.1002/ajmg.a.63215.

Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Del Chierico F, Marzano V, Scanu M, et al.

Scientific reports 2023; (13(1)):9797 doi:10.1038/s41598-023-36704-1.

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.

Carlotto BS, Deconte D, Diniz BL, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2023; (42()):e2022125 doi:10.1590/1984-0462/2023/41/2022125.

The importance of patient-specific resources for families dealing with prenatal rare diseases.

Shukla DP, Cutshall JO, van der Heijden L, et al.

American journal of medical genetics. Part A 2024; (194(3)):e63450 doi:10.1002/ajmg.a.63450.

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Liu D, Billington CJ, Raja N, et al.

Journal of the American Heart Association 2024; (13(3)):e031377 doi:10.1161/JAHA.123.031377.

Long-term Outcomes After Surgical Intervention for Congenital Supravalvar Aortic Stenosis in Children.

Zinyandu T, Knight JH, Thomas AS, et al.

The Annals of thoracic surgery 2024; (117(5)):965-972 doi:10.1016/j.athoracsur.2024.01.020.

[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech].

Bouzid FZ, Hammou HA, Akallakh H, et al.

The Pan African medical journal 2023; (46()):94 doi:10.11604/pamj.2023.46.94.29604.

Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.

Ranaweera DM, Silva DC, Samarasinghe D, et al.

Clinical laboratory 2024; (70(3)) doi:10.7754/Clin.Lab.2023.230710.

Increased heart rate fragmentation in those with Williams-Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk.

Cathey BM, Bellach A, Troendle J, et al.

American journal of physiology. Heart and circulatory physiology 2024; (327(2)):H521-H532 doi:10.1152/ajpheart.00601.2023.

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.

Collins RT, Gravenhorst V, Faury G, et al.

Journal of the American Heart Association 2024; (13(19)):e036997 doi:10.1161/JAHA.124.036997.

Clinical course and outcomes of supravalvular aortic stenosis in adults.

de Keijzer AR, Keuning ZA, Meccanici F, et al.

Open heart 2025; (12(1)) doi:10.1136/openhrt-2025-003355.

Supports available for apomorphine management: How best to facilitate appropriate usage of apomorphine?

Pirtošek Z

Parkinsonism & related disorders 2025; (139 Suppl 1()):107934 doi:10.1016/j.parkreldis.2025.107934.

Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.

Aman C, Gréa H, Rousseau A, et al.

Biomolecules 2025; (15(10)) doi:10.3390/biom15101382.