Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Tandem repeats finder: a program to analyze DNA sequences

Benson, G. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.2.573 · Cited by 9,374 · see citing works

A manual of standardized terminology, techniques and scoring system for sleep stages of human subjects

Hobson, J. A. (1969) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(69)90021-2 · Cited by 5,215 · see citing works

Light Suppresses Melatonin Secretion in Humans

Lewy, A. J., Wehr, T. A., Goodwin, F. K., Newsome, D. A., & Markey, S. P. (1980) · Science · doi:10.1126/science.7434030 · Cited by 1,913 · see citing works

Suppression of Melatonin Secretion in Some Blind Patients by Exposure to Bright Light

Czeisler, C. A., Shanahan, T. L., Klerman, E. B., Martens, H., Brotman, D. J., Emens, J. S., Klein, T., & Rizzo, J. F. (1995) · New England Journal of Medicine · doi:10.1056/nejm199501053320102 · Cited by 654 · see citing works

Practice Parameters for the Clinical Evaluation and Treatment of Circadian Rhythm Sleep Disorders

Morgenthaler, T. I., Lee-Chiong, T., Alessi, C., Friedman, L., Aurora, R. N., Boehlecke, B., Brown, T., Chesson, A. L., Kapur, V., Maganti, R., et al. (2007) · Sleep · doi:10.1093/sleep/30.11.1445 · Cited by 629 · see citing works

Salivary Melatonin as a Circadian Phase Marker: Validation and Comparison to Plasma Melatonin

Voultsios, A., Kennaway, D. J., & Dawson, D. E. (1997) · Journal of Biological Rhythms · doi:10.1177/074873049701200507 · Cited by 468 · see citing works

Autosomal XX sex reversal caused by duplication ofSOX9

Huang, B., Wang, S., Ning, Y., Lamb, A. N., & Bartley, J. A. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991203)87:4 · Cited by 424 · see citing works

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 400 · see citing works

Mutations in RAI1 associated with Smith-Magenis syndrome

Slager, R. E., Newton, T. L., Vlangos, C. N., Finucane, B., & Elsea, S. H. (2003) · Nature Genetics · doi:10.1038/ng1126 · Cited by 362 · see citing works

Sleep disturbances in the wake of traumatic events

Lavie, P. (2001) · New England Journal of Medicine · doi:10.1056/nejmra012893 · Cited by 362 · see citing works

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg, F., Guzzetta, de Oca-Luna, R. M., Magenis, R. E., Smith, A. C., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski (1991) · PubMed · Cited by 340 · see citing works

ENVIRONMENTAL POLLUTION BY CADMIUM AND MORTALITY FROM RENAL DISEASES

Lauwerys, R., & Wals, P. D. (1981) · The Lancet · doi:10.1016/s0140-6736(81)91696-2 · Cited by 317 · see citing works

MANIC-DEPRESSIVE PATIENTS MAY BE SUPERSENSITIVE TO LIGHT

Lewy, A. J., Wehr, T. A., Goodwin, F. K., Newsome, D. A., & Rosenthal, N. E. (1981) · The Lancet · doi:10.1016/s0140-6736(81)91697-4 · Cited by 264 · see citing works

Analysis of Melatonin in Human Plasma by Gas Chromatography Negative Chemical Ionization Mass Spectrometry

Lewy, A. J., & Markey, S. P. (1978) · Science · doi:10.1126/science.675255 · Cited by 253 · see citing works

The COP9 complex is conserved between plants and mammals and is related to the 26S proteasome regulatory complex

Wei, N., Tsuge, T., Serino, G., Dohmae, N., Takio, K., Matsui, M., & Deng, X. (1998) · Current Biology · doi:10.1016/s0960-9822(07)00372-7 · Cited by 247 · see citing works

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Potocki, L., Glaze, D., Tan, D.-X., Park, S.-S., Kashork, C. D., Shaffer, L. G., Reiter, R. J., & Lupski, J. R. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.6.428 · Cited by 244 · see citing works

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Leersnyder, H. D., de Blois, M., Claustrat, B., Romana, S. P., Albrecht, U., von Kleist-Retzow, J., Delobel, B., Viot, G., Lyonnet, S., Vekemans, M. J. J., et al. (2001) · The Journal of Pediatrics · doi:10.1067/mpd.2001.115018 · Cited by 198 · see citing works

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Stankiewicz, P., Shaw, C. J., Dapper, J. D., Wakui, K., Shaffer, L. G., Withers, M. A., Elizondo, L. I., Park, S. S., & Lupski, J. R. (2003) · The American Journal of Human Genetics · doi:10.1086/374385 · Cited by 181 · see citing works

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Gropman, A. L., Duncan, W. C., & Smith, A. C. M. (2006) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2005.08.018 · Cited by 155 · see citing works

Melatonin Entrains Free‐running Blind People According to a Physiological Dose‐response Curve

Lewy, A. J., Emens, J. S., Lefler, B. J., Yuhas, K., & Jackman, A. R. (2005) · Chronobiology International · doi:10.1080/07420520500398064 · Cited by 143 · see citing works

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Girirajan, S., Elsas, L. J., Devriendt, K., & Elsea, S. H. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.031211 · Cited by 122 · see citing works

β₁-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

De Leersnyder, H., de Blois, M.-C., Vekemans, M., Sidi, D., Villain, E., Kindermans, C., & Munnich, A. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.9.586 · Cited by 113 · see citing works

Exogenous Melatonin's Phase-Shifting Effects on the Endogenous Melatonin Profile in Sighted Humans: A Brief Review and Critique of the Literature

Lewy, A. J., & Sack, R. L. (1997) · Journal of Biological Rhythms · doi:10.1177/074873049701200614 · Cited by 92 · see citing works

New developments in Smith-Magenis syndrome (del 17p11.2)

Gropman, A. L., Elsea, S., Duncan, W. C., & Smith, A. C. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3280895dba · Cited by 75 · see citing works

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

Martin, S. C., Wolters, P. L., & Smith, A. C. M. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0093-2 · Cited by 74 · see citing works

Cognitive and Adaptive Behavior Profiles in Smith-Magenis Syndrome

Madduri, N., Peters, S. U., Voigt, R. G., Llorente, A. M., Lupski, J. R., & Potocki, L. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200606000-00002 · Cited by 63 · see citing works

Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates

Shaw, C. J., Withers, M. A., & Lupski, J. R. (2004) · The American Journal of Human Genetics · doi:10.1086/422016 · Cited by 62 · see citing works

Serum Melatonin Profiles and Endocrine Responses of Ewes Exposed to a Pulse of Light Late in the Dark Phase*

Earl, C. R., D'Occhio, M. J., Kennaway, D. J., & Seamark, R. F. (1985) · Endocrinology · doi:10.1210/endo-117-1-226 · Cited by 53 · see citing works

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

Bi, W., Saifi, G. M., Girirajan, S., Shi, X., Szomju, B. B., Firth, H. V., Magenis, R. E., Potocki, L., Elsea, S. H., & Lupski, J. R. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31510 · Cited by 50 · see citing works

Subunit 3 of the COP9 Signal Transduction Complex Is Conserved from Plants to Humans and Maps within the Smith–Magenis Syndrome Critical Region in 17p11.2

Potocki, L., Chen, K., & Lupski, J. R. (1999) · Genomics · doi:10.1006/geno.1998.5748 · Cited by 31 · see citing works

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

Natacci, F., Corrado, L., Pierri, M., Rossetti, M., Zuccarini, C., Riva, P., Miozzo, M. R., & Larizza, L. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20001218)95:5 · Cited by 30 · see citing works

ALCOHOL CONSUMPTION DOES NOT AFFECT MELATONIN CIRCADIAN SYNCHRONIZATION IN HEALTHY MEN

Danel, T., & Touitou, Y. (2006) · Alcohol and Alcoholism · doi:10.1093/alcalc/agl036 · Cited by 28 · see citing works

Initial results of a genome survey for novel alzheimer's disease risk genes: Association with a locus on the X chromosome

Zubenko, G. S., Stiffler, J. S., Hughes, H. B., Hurtt, M. R., & Kaplan, B. B. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980328)81:2 · Cited by 18 · see citing works

Point and interval estimations of circadian melatonin ecphasia in Smith-Magenis syndrome

Cornélissen, G., Franz Halberg, A., Tarquini, R., Perfetto, F., Salti, R., Laffi, G., & Otsuka, K. (2003) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2003.08.004 · Cited by 11 · see citing works

Insomnia: guide to diagnosis and choice of treatment

Wilson, S. J., & Nutt, D. (2008) · Prescriber · doi:10.1002/psb.227 · Cited by 4 · see citing works

Further delineation of the acro-renal-ocular syndrome

(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1 · see citing works

Chromosome Abnormalities and Genetic Counseling

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 854 · see citing works

Rhythms of life: circadian disruption and brain disorders across the lifespan

Logan, R. W., & McClung, C. A. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0088-y · Cited by 713 · see citing works

Smith–Magenis syndrome

Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241 · see citing works

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Williams, S. R., Zies, D., Mullegama, S. V., Grotewiel, M. S., & Elsea, S. H. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.013 · Cited by 115 · see citing works

Melatonin and the skeleton

Amstrup, A. K., Sikjær, T., Mosekilde, L., & Rejnmark, L. (2013) · Osteoporosis International · doi:10.1007/s00198-013-2404-8 · Cited by 90 · see citing works

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

Rinaldi, B., Villa, R., Sironi, A., Garavelli, L., Finelli, P., & Bedeschi, M. F. (2022) · Genes · doi:10.3390/genes13020335 · Cited by 65 · see citing works

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

Falco, M., Amabile, S., & Acquaviva, F. (2017) · The Application of Clinical Genetics · doi:10.2147/tacg.s128455 · Cited by 61 · see citing works

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 · see citing works

Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome

Maya, I., Vinkler, C., Konen, O., Kornreich, L., Steinberg, T., Yeshaya, J., Latarowski, V., Shohat, M., Lev, D., & Baris, H. N. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36583 · Cited by 51 · see citing works

Treatment of Dyssomnias and Parasomnias in Childhood

Kotagal, S. (2012) · Current Treatment Options in Neurology · doi:10.1007/s11940-012-0199-0 · Cited by 50 · see citing works

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

study, T. D., Vetrini, F., McKee, S. A., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E. R., Littlejohn, R. O., Holder, S. E., et al. (2019) · Genome Medicine · doi:10.1186/s13073-019-0623-0 · Cited by 48 · see citing works

Alteration of the Circadian Clock in Children with Smith-Magenis Syndrome

Nováková, M., Nevšímalová, S., Příhodová, I., Sládek, M., & Sumová, A. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2750 · Cited by 46 · see citing works

Sleep Complaints and the 24‐h Melatonin Level in Individuals with Smith–Magenis Syndrome: Assessment for Effective Intervention

Spruyt, K., Braam, W., Smits, M. G., & Curfs, L. (2016) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.12653 · Cited by 35 · see citing works

Yin–Yang Actions of Histone Methylation Regulatory Complexes in the Brain

Garay, P. M., Wallner, M. A., & Iwase, S. (2016) · Epigenomics · doi:10.2217/epi-2016-0090 · Cited by 32 · see citing works

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder

Poisson, A., Nicolas, A., Bousquet, I., Raverot, V., Gronfier, C., & Demily, C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20143533 · Cited by 31 · see citing works

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

Smith, A. C. M., Morse, R. S., Introne, W. J., & Duncan, W. C. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61003 · Cited by 31 · see citing works

Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of <i>RAI1</i>

Lacaria, M., Gu, W., & Lupski, J. R. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35941 · Cited by 28 · see citing works

Children with neurodevelopmental disorders: how do they sleep?

Belli, A., Breda, M., Maggio, C. D., Esposito, D., Marcucci, L., & Bruni, O. (2022) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000790 · Cited by 27 · see citing works

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Chen, L., Mullegama, S. V., Alaimo, J. T., & Elsea, S. H. (2015) · PubMed · Cited by 25 · see citing works

Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients

Barboni, M. T. S., Bueno, C., Nagy, B. V., Maia, P. L., Vidal, K. S. M., Alves, R. C., Reiter, R. J., do Amaral, F. G., Cipolla‐Neto, J., & Ventura, D. F. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22612 · Cited by 25 · see citing works

Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review

Woodford, E. C., McLay, L., France, K. G., Blampied, N. M., Gibbs, R. M., Swan, C. E., & Eggleston, M. (2021) · Sleep Medicine Reviews · doi:10.1016/j.smrv.2021.101433 · Cited by 22 · see citing works

The Genetics of the Human Circadian Clock

Zhang, L., Jones, C. R., Ptáček, L. J., & Fu, Y. (2011) · Advances in genetics · doi:10.1016/b978-0-12-387690-4.00007-6 · Cited by 19 · see citing works

Auditory Phenotype of Smith–Magenis Syndrome

Brendal, M. A., King, K. A., Zalewski, C. K., Finucane, B. M., Introne, W. J., Brewer, C. C., & Smith, A. C. M. (2017) · Journal of Speech Language and Hearing Research · doi:10.1044/2016_jslhr-h-16-0024 · Cited by 19 · see citing works

Diagnostic utility of daytime salivary melatonin levels in Smith–Magenis syndrome

Chik, C. L., Rollag, M. D., Duncan, W. C., & Smith, A. C. M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33158 · Cited by 17 · see citing works

Sleep disturbances and behavior in Smith-Magenis syndrome

Garayzábal, E., de la Guía, I. H., de Souza, A. L. D. M., da Silva, N. C., Giacheti, C. M., & Pinato, L. (2022) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2022.104286 · Cited by 12 · see citing works

Causes and Correlates of Frequent Night Awakenings in Early Childhood

Schwichtenberg, A. J., & Goodlin‐Jones, B. L. (2010) · International review of neurobiology · doi:10.1016/s0074-7742(10)93008-0 · Cited by 11 · see citing works

SMITH–MAGENIS SYNDROME

Smith, A. C. M., & Gropman, A. L. (2020) · doi:10.1002/9781119432692.ch54 · Cited by 11 · see citing works

Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review

Korteling, D., Musch, J. L. I., Zinkstok, J., & Boot, E. (2023) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32956 · Cited by 10 · see citing works

Down Syndrome, Other Full Aneuploidies, and Polyploidy

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0018 · Cited by 10 · see citing works

Central Hypersomnia

Dye, T. J., Jain, S. V., & Kothare, S. V. (2015) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2015.03.004 · Cited by 9 · see citing works

Désynchronisation de l'horloge interne, lumière et mélatonine

Touitou, Y. (2011) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/s0001-4079(19)31952-1 · Cited by 9 · see citing works

Congenital Scoliosis in Smith–Magenis Syndrome

Li, Z., Shen, J., Liang, J., & Sheng, L. (2015) · Medicine · doi:10.1097/md.0000000000000705 · Cited by 8 · see citing works

Phase advance of circadian rhythms in Smith–Magenis syndrome: A case study in an adult man

Kocher, L., Brun, J., Devillard, F., Azabou, É., & Claustrat, B. (2014) · Neuroscience Letters · doi:10.1016/j.neulet.2014.11.038 · Cited by 8 · see citing works

Neurodevelopmental features of Smith–Magenis syndrome: strengths and weaknesses

Osório, A., Garayzábal, E., Villaverde, M. L., & Sampaio, A. (2013) · International Journal of Developmental Disabilities · doi:10.1179/2047387712y.0000000011 · Cited by 7 · see citing works

Parental age counseling and screening for fetal trisomy

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0024 · Cited by 6 · see citing works

Psychiatricand medical disorders

Shaw, P. J., Tafti, M., & Thorpy, M. J. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139649469.035 · Cited by 5 · see citing works

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth

Nijim, Y., Adawi, A., Bisharat, B., & Bowirrat, A. (2016) · Medicine · doi:10.1097/md.0000000000002362 · Cited by 5 · see citing works

The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study

Agar, G., Oliver, C., Spiller, J., & Richards, C. (2023) · SLEEP Advances · doi:10.1093/sleepadvances/zpad034 · Cited by 5 · see citing works

Variant Chromosomes and Abnormalities of No Phenotypic Consequence

Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0016 · Cited by 4 · see citing works

Sleep disturbance in specific neurodevelopmental disorders

Stores, G. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9780511972935.005 · Cited by 4 · see citing works

Retrospective karyotype study in mentally retarded patients

Teixeira, W. G., Marques, F. K., & Freire, M. C. M. (2016) · Revista da Associação Médica Brasileira · doi:10.1590/1806-9282.62.03.262 · Cited by 4 · see citing works

Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis

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. (2011) · Revista CEFAC · doi:10.1590/s1516-18462011005000118 · Cited by 3 · see citing works

Melatonin Avoids Anatomofunctional Changes Associated to Aging in a Rat Model

Gómez, B. P., Reyes-Vázquez, C., & Velázquez-Paniagua, M. (2014) · Advances in Aging Research · doi:10.4236/aar.2014.34041 · Cited by 3 · see citing works

Daytime somnolence in an adult with smith–magenis syndrome

Takenouchi, T., Saito, H., Oishi, N., Fukushima, H., Kosaki, R., Torii, C., Takahashi, T., & Kosaki, K. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35936 · Cited by 3 · see citing works

Gametogenesis and Conception, Pregnancy Loss and Infertility

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0023 · Cited by 3 · see citing works

Robertsonian Translocations

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0007 · Cited by 3 · see citing works

Parental Sex Chromosome Aneuploidy

Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0013 · Cited by 2 · see citing works

Prenatal Diagnostic Procedures

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0025 · Cited by 2 · see citing works

Elements of Medical Cytogenetics

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0001 · Cited by 2 · see citing works

Sex Chromosome Translocations

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0006 · Cited by 2 · see citing works

Circadian Rhythm Sleep Disorders

Richdale, A., & Baker, E. K. (2018) · Sleep in Children with Neurodevelopmental Disabilities · doi:10.1007/978-3-319-98414-8_9 · Cited by 1 · see citing works

Sleep and Sleep Problems in Children with Neurologic Disorders

Grigg-Damberger, M. M. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-1703-7.10040-4 · Cited by 1 · see citing works

Inversions

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0009 · Cited by 1 · see citing works

Chromosome Instability Syndromes

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0021 · Cited by 1 · see citing works

Autosomal ring chromosomes

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0011 · Cited by 1 · see citing works

Deriving and Using a Risk Figure

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0004 · Cited by 1 · see citing works

The Origins and Consequences of Chromosome Pathology

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0003 · Cited by 1 · see citing works

Structural rearrangements

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0019 · Cited by 1 · see citing works

Preimplantation Genetic Diagnosis

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0026 · Cited by 1 · see citing works

Sintomatología ansioso depresiva y su relación con la temporalidad

Gutiérrez, D. J. G. (2010) · doi:10.14201/gredos.76492

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

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)

Copy Number Changes

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0017

Parental Autosomal Aneuploidy

Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0014

The Fragile X Syndromes

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0015

Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0008

A 4-year-old female with early morning awakenings

Beck, S. E. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-39277-8.00062-2

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

Promoter Selection and Smith-Magenis Syndrome Protein Retinoic Acid Induced-1 in Neuronal Activity-Dependent Transcription

Garay, P. M. (2021) · Deep Blue (University of Michigan) · doi:10.7302/1431

References

(2012) · Wiley eBooks · doi:10.1002/9781119977452.refs

Insertions

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0010

Uniparental Disomy and Disorders of Imprinting

Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0022

Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0028

Complex Rearrangements

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0012

Chromosome Analysis

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0002

chromosome abnormalities detected at prenatal diagnosis

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0027

Chromosomal Disorders of Sex Development

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0020

Autosomal Reciprocal Translocations

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0005

Chromosomal Abnormalities Associated with Congenital Heart Disease

Maeda, J. (2024) · Japanese Society of Pediatric Cardiology and Cardiac Surgery · doi:10.9794/jspccs.40.41

Preface to Fourth Edition

(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0007

Copyright Page

(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0004

Dedication

(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0005

Preface to The First Edition

(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0008

Cytogenetic Abbreviations and Nomenclature

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0272

Ideograms of Human Chromosomes, and Haploid Autosomal Lengths

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0271

Determining 95 Percent Confidence Limits, and the Standard Error

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0273

Epigraph

(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0006

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

Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.

Wiater, A., Smith, A. C. M., Braam, W., & Diederichs, A. (2026) · Sleep & breathing = Schlaf & Atmung · doi:10.1007/s11325-026-03640-z

Melatonin prescription in children: a study of the POMMEs cohorts

Gaye, A., Caillet, A., Revet, A., & Bénevent, J. (2026) · Drugs & Therapy Perspectives · doi:10.1007/s40267-026-01225-0

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

Braam, W., & Smith, A. C. M. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70167

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

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

Melatonin disrupts sleep in Smith-Magenis syndrome

McBride, G. (1999) · The Lancet · doi:10.1016/s0140-6736(05)77105-1 · Cited by 1 · see citing works

0300 Aberrant Melatonin Secretion Pattern in Smith-Magenis Syndrome - And Its Implication on Sleep

Polymeropoulos, C. M., Smieszek, S. P., Synnott, N. C., Xiao, C., Birznieks, G., & Polymeropoulos, M. H. (2025) · SLEEP · doi:10.1093/sleep/zsaf090.0300

Sleep and Circadian Rhythm of Melatonin in Smith-Magenis Syndrome

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Potocki, L., Glaze, D., Tan, D.-X., Park, S.-S., Kashork, C. D., Shaffer, L. G., Reiter, R. J., & Lupski, J. R. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.6.428 · Cited by 244 · see citing works

Smith–Magenis syndrome

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