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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 425 · see citing works

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 420 · see citing works

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 404 · 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

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Chen, K., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A. C., Lee, C. C., & Lupski, J. R. (1997) · Nature Genetics · doi:10.1038/ng1097-154 · Cited by 387 · 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

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

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic DisordersPreprint

Ji, Y., Eichler, E. E., Schwartz, S., & Nicholls, R. D. (2000) · Genome Research · doi:10.1101/gr.10.5.597 · Cited by 327 · see citing works

THE TREATMENT OF SLEEP DISORDERS WITH MELATONIN

Jan, J. E., Espezel, H., & Appleion, R. E. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11818.x · Cited by 304 · see citing works

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13

Hua, X., Wu, J., Goldstein, J. L., Brown, M. S., & Hobbs, H. H. (1995) · Genomics · doi:10.1016/0888-7543(95)80009-b · Cited by 302 · see citing works

Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders

Lee, J. A., & Lupski, J. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.027 · Cited by 289 · see citing works

Severe sleep disturbance and daytime challenging behaviour in children with severe learning disabilities

Wiggs, L. D., & Stores, G. (1996) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.1996.799799.x · Cited by 279 · 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

Natural history of snoring and related behaviour problems between the ages of 4 and 7 years.

Ali, N. J., Pitson, D., & Stradling, J. R. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.1.74 · Cited by 240 · see citing works

Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Song, J., Costa, K. A. D., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., & Zeisel, S. H. (2005) · The FASEB Journal · doi:10.1096/fj.04-3580com · Cited by 239 · see citing works

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., & Asher, J. H. (1995) · Nature Genetics · doi:10.1038/ng0195-86 · Cited by 222 · 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

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

Edelman, E., Girirajan, S., Finucane, B. M., Patel, P. I., Lupski, J., Smith, A., & Elsea, S. H. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00815.x · Cited by 166 · 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

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith–Magenis syndrome

Bouras, N., Dykens, E. M., & Smith, A. C. M. (1998) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.1998.4260481.x · Cited by 155 · see citing works

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Girirajan, S., Vlangos, C. N., Szomju, B. B., Edelman, E. A., Trevors, C. D., Dupuis, L., Nezarati, M. M., Bunyan, D. J., & Elsea, S. H. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000228215.32110.89 · Cited by 154 · see citing works

The face of Smith-Magenis syndrome: a subjective and objective study

Allanson, J. E., Greenberg, F., & Smith, A. C. M. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.5.394 · Cited by 144 · see citing works

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Liburd, N., Ghosh, M., Riazuddin, S., Naz, S., Khan, S., Ahmed, Z. M., Riazuddin, S. A., Liang, Y., Menon, P. S. N., Smith, T. N., et al. (2001) · Human Genetics · doi:10.1007/s004390100604 · Cited by 137 · see citing works

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal, R. C., Figuera, L. E., Hauge, X., Elsea, S. H., Lupski, J. R., Greenberg, F., Baldini, A., & Patel, P. I. (1996) · PubMed Central · Cited by 128 · see citing works

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

Stratton, R. F., Dobyns, W. B., Greenberg, F., DeSana, J. B., Moore, C. M., Fidone, G. S., Runge, G. H., Feldman, P., Sekhon, G. S., Pauli, R. M., et al. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240305 · Cited by 128 · see citing works

β₁-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

De Leersnyder, H., Bresson, J. L., de Blois, M.-C., Souberbielle, J.-C., Mogenet, A., Delhotal-Landes, B., Salefranque, F., & Munnich, A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.1.74 · Cited by 126 · see citing works

Role of Religion in the Lives of Latino Families of Young Children With Developmental Delays

Skinner, D., Correa, V. I., Skinner, M. L., & Bailey, D. B. (2001) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2001)106 · Cited by 124 · 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

Sleep Patterns Among Children with Attention-Deficit Hyperactivity Disorder: A Reexamination of Parent Perceptions

Ball, J. D., Tiernan, M., Janusz, J. A., & Furr, A. A. (1997) · Journal of Pediatric Psychology · doi:10.1093/jpepsy/22.3.389 · Cited by 118 · see citing works

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Potocki, L., Shaw, C. J., Stankiewicz, P., & Lupski, J. R. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000095625.14160.ab · Cited by 114 · see citing works

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the MousePreprint

Bi, W., Yan, J., Stankiewicz, P., Park, S. S., Walz, K., Boerkoel, C. F., Potocki, L., Shaffer, L. G., Devriendt, K., Nowaczyk, M. J. M., et al. (2002) · Genome Research · doi:10.1101/gr.73702 · Cited by 114 · see citing works

Stress and coping in families of children with Smith‐Magenis syndrome

Hodapp, R. M., Fidler, D. J., & Smith, A. C. M. (1998) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.1998.00148.x · Cited by 113 · 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

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

Shaw, C. J., & Lupski, J. R. (2004) · Human Genetics · doi:10.1007/s00439-004-1204-9 · Cited by 112 · see citing works

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Bi, W., Saifi, G. M., Shaw, C. J., Walz, K., Fonseca, P., Wilson, M., Potocki, L., & Lupski, J. R. (2004) · Human Genetics · doi:10.1007/s00439-004-1187-6 · Cited by 110 · see citing works

Brief Report: Cognitive and Behavioral Profiles in Persons with Smith-Magenis Syndrome

Dykens, E. M., Finucane, B. M., & Gayley, C. (1997) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025800126086 · Cited by 109 · see citing works

The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome

Finucane, B. M., Konar, D., Haas‐Givler, B., Kurtt, M. B., & Scott, C. I. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11770.x · Cited by 108 · see citing works

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

Walz, K., Carattini-Rivera, S., Bi, W., Fonseca, P., Mansouri, D. L., Lynch, J., Vogel, H. S., Noebels, J. L., Bradley, A., & Lupski, J. R. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.10.3646-3655.2003 · Cited by 105 · see citing works

Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2

Shaw, C. J., Bi, W., & Lupski, J. R. (2002) · The American Journal of Human Genetics · doi:10.1086/344346 · Cited by 98 · see citing works

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome

Bi, W., Ohyama, T., Nakamura, H., Yan, J., Visvanathan, J., Justice, M. J., & Lupski, J. R. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi085 · Cited by 97 · see citing works

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

Boudreau, E. A., Johnson, K. P., Jackman, A. R., Blancato, J., Huizing, M., Bendavid, C., Jones, M., Chandrasekharappa, S. C., Lewy, A. J., Smith, A. C. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32846 · Cited by 92 · see citing works

Mutational spectrum ofMYO15A: the large N-terminal extension of myosin XVA is required for hearing

Nal, N., Ahmed, Z. M., Erkal, E., Alper, Ö. M., Lüleci, G., Dinç, O., Waryah, A. M., Ain, Q. U., Tasneem, S., Husnaın, T., et al. (2007) · Human Mutation · doi:10.1002/humu.20556 · Cited by 90 · see citing works

Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

Zori, R. T., Lupski, J. R., Zhang, H., Greenberg, F., Killian, J. M., Gray, B. A., Driscoll, D. J., Patel, P. I., & Zackowski, J. L. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470414 · Cited by 89 · see citing works

Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Vlangos, C. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00048-9 · Cited by 86 · see citing works

Hairless, a Drosophila gene involved in neural development, encodes a novel, serine rich protein

Maier, D., Stumm, G., Kuhn, K., & Preiss, A. (1992) · Mechanisms of Development · doi:10.1016/0925-4773(92)90006-6 · Cited by 85 · see citing works

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes

Bi, W., Yan, J., Shi, X., Yuva‐Paylor, L. A., Antalffy, B. A., Goldman, A. M., Yoo, J. W., Noebels, J. L., Armstrong, D. L., Paylor, R. E., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm128 · Cited by 83 · see citing works

Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.

Onodera, O., Oyake, M., Takano, H., Ikeuchi, T., Igarashi, S., & Tsuji, S. (1995) · Europe PMC (PubMed Central) · Cited by 80 · 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

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

Chen, K. S., Gunaratne, P. H., Hoheisel, J. D., Young, I. G., Miklos, G. L. G., Greenberg, F., Shaffer, L. G., Campbell, H. D., & Lupski, J. R. (1995) · PubMed Central · Cited by 71 · see citing works

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Smith, A. C. M., Gropman, A. L., Wilson, J., Göker-Alpan, Ö., Elsea, S. H., Blancato, J. K., Lupski, J. R., & Potocki, L. (2002) · Genetics in Medicine · doi:10.1097/00125817-200205000-00004 · Cited by 70 · see citing works

Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301786 · Cited by 65 · see citing works

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 portuguese ataxia families

Silveira, I., Coutinho, P., Maciel, P., Gaspar, C., Hayes, S. M., Dias, A., Guimar�es, J., Loureiro, J. L., Sequeiros, J., & Rouleau, G. A. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980328)81:2 · Cited by 64 · 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

Abilities and attainment in Smith-Magenis syndrome

Udwin, O., Webber, C., & Horn, I. (2001) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162201001499 · Cited by 63 · see citing works

Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

Wolters, P. L., Gropman, A. L., Martin, S. C., Smith, M. R., Hildenbrand, H. L., Brewer, C. C., & Smith, A. C. M. (2009) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2009.04.015 · Cited by 62 · 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

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome)

COLLEY, A. F., Leversha, M., Voullaire, L. E., & Rogers, J. G. (1990) · Journal of Paediatrics and Child Health · doi:10.1111/j.1440-1754.1990.tb02372.x · Cited by 60 · see citing works

The Nuclear Factor SPBP Contains Different Functional Domains and Stimulates the Activity of Various Transcriptional Activators

Rekdal, C., Sjøttem, E., & Johansen, T. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m006978200 · Cited by 59 · see citing works

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

Toulouse, A., Rochefort, D. L., Roussel, J., Joober, R., & Rouleau, G. A. (2003) · Genomics · doi:10.1016/s0888-7543(03)00101-0 · Cited by 59 · see citing works

Craniofacial and dental phenotype of Smith–Magenis syndrome

Tomona, N., Smith, A. C. M., Guadagnini, J.-P., & Hart, T. C. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31371 · Cited by 58 · see citing works

Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome

De Leersnyder, H., Claustrat, B., Munnich, A., & Verloes, A. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.03.043 · Cited by 56 · see citing works

Eye abnormalities in the Smith‐Magenis contiguous gene deletion syndrome

Finucane, B. M., Jaeger, E. R., Kurtz, M. B., Weinstein, M. E., & Scott, C. I. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320450409 · Cited by 56 · 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

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Trask, B. J., Mefford, H. C., van den Engh, G., Massa, H. F., Juyal, R. C., Potocki, L., Finucane, B. M., Abuelo, D. N., Witt, D. R., Magenis, E., et al. (1996) · Human Genetics · doi:10.1007/s004390050291 · Cited by 50 · see citing works

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith–Magenis syndrome patients

Seranski, P., Hoff, C., Radelof, U., Hennig, S., Reinhardt, R., Schwartz, C. E., Heiss, N. S., & Poustka, A. (2001) · Gene · doi:10.1016/s0378-1119(01)00415-2 · Cited by 48 · see citing works

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

Vlangos, C. N., Wilson, M., Blancato, J. K., Smith, A. C. M., & Elsea, S. H. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30461 · Cited by 45 · see citing works

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome

Yan, J., Keener, V. W., Bi, W., Walz, K., Bradley, A., Justice, M. J., & Lupski, J. R. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh288 · Cited by 45 · see citing works

Smith-Magenis syndrome: A case report of improved sleep after treatment with β1-adrenergic antagonists and melatonin

Carpizo, R., Martínez, Á., Mediavilla, D., González, M., Abad, A., & Sánchez‐Barceló, E. J. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2006.04.055 · Cited by 44 · see citing works

Caring for the Caregivers: An Investigation of Factors Related to Well‐Being Among Parents Caring for a Child with Smith‐Magenis Syndrome

Foster, R. H., Kozachek, S., Stern, M., & Elsea, S. H. (2010) · Journal of Genetic Counseling · doi:10.1007/s10897-009-9273-5 · Cited by 44 · see citing works

Ophthalmic Manifestations of Smith-Magenis Syndrome

Chen, R. M., Lupski, J. R., Greenberg, F., & Lewis, R. A. (1996) · Ophthalmology · doi:10.1016/s0161-6420(96)30563-0 · Cited by 44 · see citing works

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

Sumita, D. R., Vainzof, M., Campiotto, S., Cerqueira, A., C�novas, M., Otto, P. A., Passos-Bueno, M. R., & Zatz, M. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19981204)80:4 · Cited by 43 · see citing works

Overview of Smith-Magenis syndrome.

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Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome

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