Smith–Magenis syndrome

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908

The PHD finger: Implications for chromatin-mediated transcriptional regulation

Aasland, R. (1995) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(00)88957-4 · Cited by 850

TACI is mutant in common variable immunodeficiency and IgA deficiency

Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R. A., Bonilla, F. A., Schneider, L. C., & Geha, R. S. (2005) · Nature Genetics · doi:10.1038/ng1601 · Cited by 699

Transcriptional Activation Modulated by Homopolymeric Glutamine and Proline Stretches

Gerber, H., Seipel, K., Georgiev, O., Höfferer, M., Hug, M., Rusconi, S., & Schaffner, W. (1994) · Science · doi:10.1126/science.8303297 · Cited by 618

Birt-Hogg-Dubé syndrome: diagnosis and management

Menko, F. H., Steensel, M. A. M. V., Giraud, S., Friis-Hansen, L. J., Richard, S., Ungari, S., Nordenskjöld, M., Hansen, T. V. O., Solly, J., & Maher, E. R. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70188-3 · Cited by 592

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben‐Trauth, K., Camper, S. A., et al. (1998) · Science · doi:10.1126/science.280.5368.1447 · Cited by 434

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Potocki, L., Bi, W., Treadwell‐Deering, D., Carvalho, C. M. B., Eifert, A., Friedman, E. M., Glaze, D. G., Krull, K. R., Lee, J. A., Lewis, R. A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512864 · Cited by 432

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Potocki, L., Chen, K.-S., Park, S. S., Osterholm, D. E., Withers, M. A., Kimonis, V. E., Summers, A. M., Meschino, W. S., Anyane‐Yeboa, K., Kashork, C. D., et al. (2000) · Nature Genetics · doi:10.1038/71743 · Cited by 421

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Schmidt, L. S., Nickerson, M. L., Warren, M. B., Glenn, G. M., Toro, J. R., Merino, M. J., Turner, M. L. C., Choyke, P. L., Sharma, N. D., Peterson, J. C., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/430842 · Cited by 407

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Smith, A. C. M., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., Reiss, J. A., Lahr, M. B., Allen, L., Magenis, E., et al. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240303 · Cited by 402

An assessment of obesity and hyperphagia in individuals with Smith-Magenis syndrome

Crain, C. A. (2010) · Digital Commons-TMC (Texas Medical Center) · Cited by 1

Novel De Novo RAI1:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint AnalysisPreprint

Ćuk, M., Unal, B., Jandric, N., Hayes, C. P., Walker, M., Gornik, K. C., Abraamyan, F., & Ghazani, A. A. (2024) · Preprints.org · doi:10.20944/preprints202407.2052.v1 · Cited by 1

Deletions and Other Structural Abnormalities of the Autosomes

Conlin, L. K., Chan, A. J. S., Emanuel, B. S., & Spinner, N. B. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00001-x · Cited by 1

Behavioral Aspects of Chromosomal Variants

Speicher, M. R. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_31

Melatonin for sleep problems in individuals with intellectual disabilities: a study into its effectiveness and clinical aspects

Braam, W. (2010) · doi:10.26481/dis.20100929wb

Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos diferenciais e caracterização de uma região crítica para obesidade

D’Angelo, C. S. (2009) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2009.tde-22102009-181757

Pathogenic chromosomal microarray copy number changes by chromosome order

Zneimer, S. M. (2014) · Wiley eBooks · doi:10.1002/9781118412602.ch18

Utredning av ukjente syndromer ved hjelp av moderne cytogenetiske metoder

Nilsen, H.-J. S., & Pettersen, S. M. (2008) · NORA - Norwegian Open Research Archives

Cellular reprogramming to study intellectual disability and neurodevelopmental disorders

Ezashi, T. (2013) · OA Biochemistry · doi:10.13172/2052-9651-1-1-443

Análise molecular de pacientes com síndrome de Smith-Magenis

Vieira, G. H. A. (2011) · Aleph UCLA Undergraduate Research Journal for the Humanities and Social Sciences

Smith-Magenis Syndrome

Chen, H. (2015) · Springer eBooks · doi:10.1007/978-1-4614-6430-3_219-2

Response to Benn

Rosenfeld, J. A., Coe, B. P., Eichler, E. E., Cuckle, H., & Shaffer, L. G. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.20 · Cited by 1

Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems

Demirel, M., Ütine, E., & Boduroğlu, K. (2014) · Acta Medica

SÍNDROME DE SMITH-MAGENIS

Gener, B. (2010)

Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis Clinical, cognitive, behavioral and communicative features of Smith-Magenis syndrome

Lamônica, D. A. C., da Silva, G. K., Furlan, R. H., Abramides, D. V. M., Vieira, G. H. A., Moretti‐Ferreira, D., & Giacheti, C. M. (2012) · DOAJ (DOAJ: Directory of Open Access Journals)

Effets de l’équithérapie pour 3 enfants présentant le syndrome Smith-Magenis : la tolérance à la frustration et autres apports

Henaff, I. L., & Grandgeorge, M. (2017) · Neuropsychiatrie de l Enfance et de l Adolescence · doi:10.1016/j.neurenf.2017.04.002

Characterization of deletions in a cohort with cleft lip and palate

Massiello, E. (2017) · D-Scholarship@Pitt (University of Pittsburgh)

SNP arrays na detecção de alterações estruturais e no número de cópias em pacientes portadores de deficiência intelectual idiopática

dos Santos, A. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2017.tde-12072017-082102

Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası

Yiğin, A. K., Alay, M. T., & Seven, M. (2020) · Phoenix Medical Journal · doi:10.38175/phnx.686763

Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları

Çokyaman, T., Erdem, U. O., Aylanç, H., & Sılan, F. (2020) · OSMANGAZİ JOURNAL OF MEDICINE · doi:10.20515/otd.755935

Angelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures

Panov, J., & Kaphzan, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22189870

A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn

Barola, S., Parrill, A., Mahmoudzadeh, S., Bizargity, P., & Verma, R. P. (2022) · Cureus · doi:10.7759/cureus.23290

The educational experiences of students with Smith-Magenis syndrome

Corbett, S. (2016) · doi:10.17760/d20221835

Chromosomes and Chromosomal Abnormalities

Descartes, M. D., Korf, B. R., & Mikhail, F. M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00031-7

Seizures in Mouse Models of Autism

Sebold, A. J., Strassburg, A., Avery, N., Ryndych, D., Foss, V. B., Sawhney, P., & Otazu, G. H. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_7

Sleep regulation and host genetics

Odriozola, A., González, A., Álvarez‐Herms, J., & Corbi, F. (2024) · Advances in genetics · doi:10.1016/bs.adgen.2024.02.002

Patients with Genetic Syndromes

Katz, T. C., Finn, C. T., & Stoler, J. M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-11844-9.00063-1

Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS)

Brennan, C., & Baiduc, R. R. (2024) · Journal of Communication Disorders · doi:10.1016/j.jcomdis.2024.106455

Analysis of Voice Quality in Children With Smith-Magenis Syndrome

Martínez, R., de la Guía, I. H., Garayzábal, E., Fernández-Ruiz, R., Núñez-Vidal, E., Álvarez-Marquina, A., & Alonso, D. P. (2024) · Journal of Voice · doi:10.1016/j.jvoice.2024.09.026

Chronic Hypercapnic Respiratory Failure in a Patient With Smith-Magenis Syndrome: A Case Report

Ali, Q. A., May, I., Chakraborty, D., & Tey, C. (2024) · Cureus · doi:10.7759/cureus.72980

Approach to diagnosis and management of genetic neurodevelopmental disorders

Mo, A., Oanea, M., Cohen, J. S., Rodan, L. H., & Srivastava, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-824060-1.00002-x

Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report

Zhu, W.-T., Jiang, L.-X., Ma, Y.-M., Wu, X.-Y., & Zhao, Q. (2025) · Journal of International Medical Research · doi:10.1177/03000605241310844

Ocular Manifestations of Chromosomal Abnormalities

Haefeli, L. D. M., Siddiqui, S. N., & Levin, A. V. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0016

Growth Standards for Children With Smith–Magenis Syndrome ( SMS )

Hoover-Fong, J. E., McGready, J., Fleming, L. R., Schulze, K. J., Duncan, F., Leonard, A., Boucard, M. C. D. B., Moretti‐Ferreira, D., Gropman, A. L., Introne, W. J., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64167

A Clinical Practice Example of Smith–Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches—A Case Report

Shevchenko, O. (2026) · Children · doi:10.3390/children13020179

NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders

Redin, C. E. (2014) · theses.fr (ABES) · doi:10.70675/1cde3d1az56a0z4cbbz9f7fzfedc65bd088e

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

Blanc, A., Némos, C., Bonnet, C., Renaud, M., Chapuis, S., Boiroux, P., Babinet, M.-N., & Demily, C. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70205

Sleep–circadian dysfunction in Smith–Magenis syndrome: a systematic review and clinical framework for personalised management

Lozano‐García, A., & González-Camacho, S. (2026) · Sleep and Biological Rhythms · doi:10.1007/s41105-026-00683-3

RETINOIC ACID INDUCED 1 GENE ANALYSIS IN HUMANS AND ZEBRAFISH

Vyas, B. (2009) · VCU Scholars Compass (Virginia Commonwealth University) · doi:10.25772/wd2e-b405

Estudo Citogenético da região 17p11.2 A síndrome de Smith-Magenis

Gamba, B. F. (2010) · Americanae (AECID Library)

Smith-Magenis syndrome: a mechanistic perspective

Bina, M., & Novorolsky, E. (2010)

Smith–Magenis syndrome: haploinsufficiency ofRAI1results in altered gene regulation in neurological and metabolic pathways

Elsea, S. H., & Williams, S. R. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001827 · Cited by 58

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Vieira, G. H. A., Rodriguez, J. D., Carmona-Mora, P., Cao, L., Gamba, B. F., Carvalho, D. R., Duarte, A. R., dos Santos, S. R., de Souza, D. H., DuPont, B. R., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.167 · Cited by 59

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Vilboux, T., Ciccone, C., Blancato, J. K., Cox, G. F., Deshpande, C., Introne, W. J., Gahl, W. A., Smith, A. C. M., & Huizing, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022861 · Cited by 45

Two cases of Smith-Magenis syndrome

Jung, S. K., Park, K. H., Shin, H. K., Eun, S. H., Eun, B., Yoo, K. H., Hong, Y. S., Lee, J. W., & Bae, S. Y. (2009) · Korean Journal of Pediatrics · doi:10.3345/kjp.2009.52.6.701 · Cited by 3

Smith–Magenis Syndrome: Clues in the Clinic

Akkuş, N., Kılıç, B., & Cubuk, P. O. (2020) · Journal of Pediatric Genetics · doi:10.1055/s-0039-1700965 · Cited by 4