Thematische Bibliographien / Smith-Magenis syndrom

Inhaltsverzeichnis

  1. Zeitschriftenartikel
  2. Dissertationen
  3. Bücher
  4. Buchteile

Auswahl der wissenschaftlichen Literatur zum Thema „Smith-Magenis syndrom“

Autor: Grafiati
Veröffentlicht am 28. Juni 2021
Zuletzt aktualisiert am 8. Februar 2022

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Zeitschriftenartikel zum Thema "Smith-Magenis syndrom"

1

Bergmann, C., S. Morlot und M. Ptok. „Sprachentwicklungsbehinderung beim Smith-Magenis-Syndrom“. HNO 55, Nr. 8 (10.06.2006): 644–46. http://dx.doi.org/10.1007/s00106-006-1430-7.

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2

Finucane, Brenda M., und Edward R. Jaeger. „Smith-Magenis Syndrome“. Ophthalmology 104, Nr. 5 (Mai 1997): 732–33. http://dx.doi.org/10.1016/s0161-6420(97)30243-7.

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3

Crumley, Frank E. „SMITH-MAGENIS SYNDROME“. Journal of the American Academy of Child & Adolescent Psychiatry 37, Nr. 11 (November 1998): 1131–32. http://dx.doi.org/10.1097/00004583-199811000-00010.

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4

Elsea, Sarah H., und Santhosh Girirajan. „Smith–Magenis syndrome“. European Journal of Human Genetics 16, Nr. 4 (30.01.2008): 412–21. http://dx.doi.org/10.1038/sj.ejhg.5202009.

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5

Burke, Shanna L., und Peter Maramaldi. „Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature“. Intellectual and Developmental Disabilities 54, Nr. 4 (01.08.2016): 273–84. http://dx.doi.org/10.1352/1934-9556-54.4.273.

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Abstract The Social Security Administration (SSA) launched the Compassionate Allowances List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability benefits, while decreasing application backlog. This study hypothesized that developmental disorders, such as Smith-Magenis syndrome, may meet criterion for inclusion. An evaluative review of the literature was undertaken to determine if the expedited review criterion was met. Ten databases were searched and articles meeting pre-defined criteria were coded according to the SSA definition of disability to determine if severity indices screen in or screen out certain severity levels or exclude Smith-Magenis syndrome entirely in relation to the CAL program. It was strongly recommended that Smith-Magenis syndrome receive consideration for inclusion in the CAL.
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Lacombe, D., A. Moncla, P. Malzac, MG Mattei und J. Battin. „Syndrome de Smith-Magenis“. Archives de Pédiatrie 4, Nr. 5 (Mai 1997): 438–42. http://dx.doi.org/10.1016/s0929-693x(97)86671-7.

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7

Talavera Vargas-Machuca, Sergio, Ismenia Gamboa Oré, Francia Huamán Dianderas, Ricardo Fujita Alarcón, María Luisa Fajardo Loo und María Luisa Guevara Gil. „Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)“. Horizonte Médico (Lima) 17, Nr. 3 (30.06.2017): 73–78. http://dx.doi.org/10.24265/horizmed.2017.v17n3.12.

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8

Cesaityte, Karina, und Danielius Serapinas. „The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences“. Genetika 48, Nr. 3 (2016): 859–66. http://dx.doi.org/10.2298/gensr1603859c.

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Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.
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Nimeri, Nuha. „Smith–magenis syndrome. A unique neonatal presentation among the Arab population“. MOJ Clinical & Medical Case Reports 10, Nr. 6 (2020): 160–63. http://dx.doi.org/10.15406/mojcr.2020.10.00368.

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Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.
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De Leersnyder, Hélène, und Alain Verloes. „Le syndrome de Smith-Magenis“. Devenir 20, Nr. 3 (2008): 197. http://dx.doi.org/10.3917/dev.083.0197.

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Dissertationen zum Thema "Smith-Magenis syndrom"

1

Struthers, Jennifer Leigh. „Molecular screening for Smith-Magenis syndrome“. Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/MQ65646.pdf.

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2

Taylor, Lisa. „Behavioural phenotype of Smith-Magenis syndrome“. Thesis, University of Birmingham, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435388.

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Wilde, Lucy Victoria. „The behavioural and cognitive phenotype of Smith-Magenis syndrome“. Thesis, University of Birmingham, 2012. http://etheses.bham.ac.uk//id/eprint/3698/.

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Background: Attention-seeking and impulsivity are reported to be problematic in Smith-Magenis syndrome (SMS) and have been linked to other challenging behaviours including self-injury and aggression. However, limited research has directly examined these aspects of the SMS behavioural phenotype. Method: A survey study refined descriptions of atypical social behaviour. Two further studies directly observed social behaviour, in both naturalistic settings and structured social situations manipulating familiarity of interacting adults and level of attention. A final study evaluated whether response inhibition, measured using cognitive assessments, underpins impulsive behaviour in SMS. Results: Caregivers reported elevated ‘attachment’ to particular people, but not generally elevated sociability. Natural observations revealed preferences for adult attention and manipulations of social variables indicated preference for familiar adults. Impulsivity was not associated with inhibition deficits, however emotional control was. Conclusions: Reports of atypical social behaviour were supported, characterised by seeking attention from familiar adults. Associations between impulsivity and emotional control implicate specific deficits in delay of gratification (whereby delay causes aversive emotional responses). Considering these findings in an integrated model of the SMS behavioural phenotype, including pathways from genetic difference to behaviour and environmental influences, may facilitate targeted interventions for challenging behaviours.
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Webber, Carolyn. „Cognitive and behavioural characteristics of children with Smith-Magenis syndrome“. Thesis, University of Leicester, 1999. http://hdl.handle.net/2381/31285.

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The study aimed to identify behavioural and cognitive characteristics in 29 children with Smith-Magenis syndrome. Cognitive assessments were undertaken on the children, and detailed interviews assessing sleep patterns, maladaptive behaviours, self-injury, hyperactivity and autism were carried out with their parents and teachers. The study identified high levels of sleep problems, aggression, self-injury, distractibility and autism in the sample, in comparison with rates reported for other groups of children with learning disabilities. These were associated with high levels of stress in the parents. It is concluded that the combination of difficulties and abilities identified in the present sample of children with SMS is indicative of a behavioural phenotype for the syndrome, and that there is an urgent need for intervention studies on the challenging behaviours posed by this group of children.
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Vieira, Gustavo Henrique. „Análise molecular de pacientes com síndromes de Smith-Magenis /“. Botucatu : [s.n.], 2011. http://hdl.handle.net/11449/102693.

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Orientador: Danilo Moretti-Ferreira
Coorientador: Anand Kumar Srivastava
Banca: Angela Maria Vianna Morgante
Banca: Lucia Regina Martelli
Banca: Claudia Domingues Bonini
Resumo: A síndrome de Smith-Magenis (SMS) foi descrita , em 1986, como uma síndrome que envolvia uma mutação na região 17p em 9 pacientes. Sua prevalência esta estimada em um caso a cada 25.000 nascidos vivos. A SMS apresenta fenótipo que inclui características físicas, no desenvolvimento e comportamentais. Os sinais faciais se caracterizam por uma face larga e de forma quadrangular, braquicefalia, frontal proeminente, sinofre, fendas palpebrais alongadas para cima, ponte nasal larga, hipoplasia de face média, nariz largo e achatado, micrognatia na infância com relativa prognatia com a idade e lábio superior protruso e em „v‟ invertido. Os sinais clínicos mais importantes na SMS são comportamentais que levam a autoagressão, hiperatividade e déficit atenção. Foram estudados 31 pacientes brasileiros com suspeita diagnóstica de SMS. As análises genéticas realizadas para avaliar este grupo incluíram técnicas de citogenética molecular (FISH), aCGH, PCR quantitativa e busca por mutações na região de transcrição do gene RAI1. Os resultados demostraram que mais de 90% dos casos neste estudo tinham deficiência mental, atraso no desenvolvimento da fala e comportamento de auto-injúria. Além disso, 30% (9/30) tiveram deleção ou mutação de ponto na região 17p11.2 e RAI1 gene, sendo que 67% apresentaram uma deleção clássica (6/9), 11% tinham uma deleção atípica (1/9) e 22% (2/9) tinham uma mutação no gene RAI1. Foi possível determinar o ponto de quebra das deleções observadas e determinar os genes envolvidos. A deleção atípica descrita neste trabalho atingiu parte do gene RAI e até o momento não havia sido descrita. Além disso, duas mutações de ponto, no exon 3 do gene foram descritas. Por fim, dentro grupo estudado, foi diagnosticado um caso com síndrome da deleção 1p36, sendo possível a sugestão de um novo... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The Smith-Magenis syndrome (SMS) was described in 1986 as a syndrome involving a deletion in the 17p region in 9 patients. Its prevalence is estimated at one case per 25.000 live births. The SMS has phenotype that includes physical and behavioral development. The facial features are characterized by brachycephaly, midface hypoplasia, relative prognatism, everted, "tented" upper lip and deep-set, close-spaced eyes. The most important clinical features in SMS are leading behavioral self-injury, hyperactivity and attention deficit. We studied 31 Brazilian patients with suggested diagnostic to SMS. The genetic analysis performed to evaluate this group included molecular cytogenetic techniques (FISH), aCGH, quantitative PCR and the search for mutations in the gene transcription RAI1. Results showed that over 90% of the cases in this study had intellectual disability, delayed speech-language development, and self-injurious behavior. Furthermore, 30% had deletion or point mutation in the 17p11.2 region and RAI1 gene. Within this group, we found that 67% carried a classic deletion, 11% had an atypical deletion and 22% had a mutation in the RAI1 gene. It was possible to determine the breakpoint of the deletions observed and to determine the genes involved. The atypical deletion described reached part of the gene RAI1 and to date had not been described. In addition, two point mutations in exon 3 gene have been described. Finally, in this study group, one case was diagnosed with 1p36 deletion syndrome hinting of a possible new Differential Diagnosis for SMS. These findings add information for the etiology of SMS and may facilitate the development of new diagnostic tools, including FISH probes and sequencing-based screening for mutations.
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Vieira, Gustavo Henrique [UNESP]. „Análise molecular de pacientes com síndromes de Smith-Magenis“. Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/102693.

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Made available in DSpace on 2014-06-11T19:32:13Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-03-03Bitstream added on 2014-06-13T19:02:39Z : No. of bitstreams: 1 vieira_gh_dr_botib.pdf: 2742179 bytes, checksum: 6bb27b4e9425723a049535fafef2bcab (MD5)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A síndrome de Smith-Magenis (SMS) foi descrita , em 1986, como uma síndrome que envolvia uma mutação na região 17p em 9 pacientes. Sua prevalência esta estimada em um caso a cada 25.000 nascidos vivos. A SMS apresenta fenótipo que inclui características físicas, no desenvolvimento e comportamentais. Os sinais faciais se caracterizam por uma face larga e de forma quadrangular, braquicefalia, frontal proeminente, sinofre, fendas palpebrais alongadas para cima, ponte nasal larga, hipoplasia de face média, nariz largo e achatado, micrognatia na infância com relativa prognatia com a idade e lábio superior protruso e em „v‟ invertido. Os sinais clínicos mais importantes na SMS são comportamentais que levam a autoagressão, hiperatividade e déficit atenção. Foram estudados 31 pacientes brasileiros com suspeita diagnóstica de SMS. As análises genéticas realizadas para avaliar este grupo incluíram técnicas de citogenética molecular (FISH), aCGH, PCR quantitativa e busca por mutações na região de transcrição do gene RAI1. Os resultados demostraram que mais de 90% dos casos neste estudo tinham deficiência mental, atraso no desenvolvimento da fala e comportamento de auto-injúria. Além disso, 30% (9/30) tiveram deleção ou mutação de ponto na região 17p11.2 e RAI1 gene, sendo que 67% apresentaram uma deleção clássica (6/9), 11% tinham uma deleção atípica (1/9) e 22% (2/9) tinham uma mutação no gene RAI1. Foi possível determinar o ponto de quebra das deleções observadas e determinar os genes envolvidos. A deleção atípica descrita neste trabalho atingiu parte do gene RAI e até o momento não havia sido descrita. Além disso, duas mutações de ponto, no exon 3 do gene foram descritas. Por fim, dentro grupo estudado, foi diagnosticado um caso com síndrome da deleção 1p36, sendo possível a sugestão de um novo...
The Smith-Magenis syndrome (SMS) was described in 1986 as a syndrome involving a deletion in the 17p region in 9 patients. Its prevalence is estimated at one case per 25.000 live births. The SMS has phenotype that includes physical and behavioral development. The facial features are characterized by brachycephaly, midface hypoplasia, relative prognatism, everted, tented upper lip and deep-set, close-spaced eyes. The most important clinical features in SMS are leading behavioral self-injury, hyperactivity and attention deficit. We studied 31 Brazilian patients with suggested diagnostic to SMS. The genetic analysis performed to evaluate this group included molecular cytogenetic techniques (FISH), aCGH, quantitative PCR and the search for mutations in the gene transcription RAI1. Results showed that over 90% of the cases in this study had intellectual disability, delayed speech-language development, and self-injurious behavior. Furthermore, 30% had deletion or point mutation in the 17p11.2 region and RAI1 gene. Within this group, we found that 67% carried a classic deletion, 11% had an atypical deletion and 22% had a mutation in the RAI1 gene. It was possible to determine the breakpoint of the deletions observed and to determine the genes involved. The atypical deletion described reached part of the gene RAI1 and to date had not been described. In addition, two point mutations in exon 3 gene have been described. Finally, in this study group, one case was diagnosed with 1p36 deletion syndrome hinting of a possible new Differential Diagnosis for SMS. These findings add information for the etiology of SMS and may facilitate the development of new diagnostic tools, including FISH probes and sequencing-based screening for mutations.
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7

Hough, Tanya M. „Differential reinforcement of other behavior (DRO) in an adult with Smith-Magenis Syndrome“. Thesis, Kaplan University, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=1541043.

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The effectiveness of differential reinforcement of other behavior (DRO) with an extinction component was evaluated with two target behaviors with an adult with Smith Magenis Syndrome (SMS) residing in the community who displayed elopement and physical aggression. The intervention included DRO using a fixed-time schedule of reinforcement, paired with extinction when elopement and physical aggression occurred. DRO was demonstrated to be effective in reducing the target behaviors of elopement and physical aggression, resulting in a 79% reduction of elopement and 100% decrease in physical aggression in the group home. Currently, there is a significant need for research using behavioral interventions to decrease challenging behaviors in adults diagnosed with SMS, as very little has been published on this topic.

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Burns, Brooke. „Obesity, Adiposity, and Satiety in mouse models of Smith-Magenis Syndrome and dup(17)(p11.2) Syndrome“. VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1802.

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Smith-Magenis syndrome (SMS) is a complex disorder caused by haploinsufficiency of RAI1 and characterized by sleep disturbances, behavioral abnormalities, mental retardation, and obesity in teens and adults. Rai1+/- mice are obese after 20 weeks. Dup(17)(p11.2) syndrome is a complex disorder associated with overexpression of RAI1. A transgenic mouse model of dup(17)(p11.2) syndrome overexpresses Rai1 and results in a mouse that is growth delayed. In order to characterize the obese phenotypes of mouse models of SMS and the role of RAI1 in obesity, daily food intake and serum levels of insulin, glucose, PPY, and leptin were measured; adiposity was studied by characterizing fat deposition; and gene expression was studied in the hypothalamus. These studies show that Rai1+/- mice are hyperphagic, consume more during the inactive light phase, and have altered satiety genes in the hypothalamus. Adiposity studies have shown WT females have a higher body fat content and visceral fat proportion than males, but Rai1-Tg and Rai1+/- females have similar fat deposition patterns as WT males. Hypothalamic gene expression studies show that many genes and pathways are affected by Rai1 and Rai1 dosage, including many genes associated with obesity and satiety.
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DAVION, CORINE. „A propos d'une observation de syndrome de smith-magenis (deletion 17 p 11. 2)“. Lille 2, 1990. http://www.theses.fr/1990LIL2M005.

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Williams, Stephen. „IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE“. VCU Scholars Compass, 2010. http://scholarscompass.vcu.edu/etd/65.

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Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome that results from a deletion of chromosome 17p11.2 or mutation of the retinoic acid inducted one gene (RAI1). SMS is characterized by a multitude of phenotypic features including craniofacial defects, short stature, obesity, intellectual disability, self-abusive behavior, sleep disturbance and behavioral abnormalities. Interestingly, although SMS is a clearly defined syndrome with a known molecular change at its foundation, ~40% of all candidate cases sent to the Elsea lab for evaluation do not have a mutation or deletion of RAI1. We hypothesize that at least one other locus must be responsible for this Smith-Magenis-like (SMS-like) phenotype. To address this hypothesis, we first compiled a cohort of 52 subjects who had been referred to the Elsea lab for a clinical diagnosis of SMS. Once these individuals were confirmed to not have an RAI1 mutation or deletion, their phenotypes were compiled and statically analyzed to distinguish whether SMS and SMS-like cohorts are different in the prevalence of the core phenotypes of SMS such as, but not limited to, sleep disturbance, self-abusive behavior and developmental delay. SMS-like and SMS cohorts are not different in prevalence for these core features. Next, all SMS-like subjects were sent for whole genome array comparative genomic hybridization (aCGH) to identify duplications or deletions of each individual’s genome which contribute to the phenotype observed. We identified 6 pathogenic copy number variants (CNVs) in six individuals which contribute directly to the clinical phenotype, including two del(2)(q37). This study enabled us to draw relationships between SMS and other syndromes that had never been appreciated before and helped to identify pathways in which RAI1 may function. Using the data from our SMS-like study we were able to further characterize two known syndromes; Deletion 2q37 syndrome (brachydactyly mental retardation syndrome) and deletion 2q23 syndrome. With regard to deletion 2q37, syndrome we used genomic data from known and new deletion 2q37 subjects to refine the critical region to one gene: the histone deacetylase 4 gene (HDAC4). Using both clinical and molecular clues, we were able to identify one subject from our SMS-like cohort who has an insertion in HDAC4 which results in a premature stop codon. We conclude from this study that mutation of HDAC4 results in brachydactyly mental retardation syndrome. With regard to deletion 2q23 syndrome there were only five known cases in the published literature to which we were able to add two more. Using as similar approach to our del2q37 study we refined the critical region for this syndrome to one gene, the methyl binding domain 5 gene (MBD5). Using a molecular and clinical approach we were able to conclude that haploinsufficiency of MBD5 results in the core phenotypes seen in del2q23 syndrome including microcephaly, intellectual disabilities, severe speech impairment, and seizures. Using all the data generated from the three previous studies we set out to characterize the molecular function of RAI1. We hypothesize that RAI1 is a transcription factor that regulates gene expression of core genes involved in development, neurological function, and circadian rhythm. Using a ChIP-chip based approach we identified 257 transcripts we believe RAI1 regulates. Following up on these transcripts, using in vitro and in vivo methods, we have been able to conclude that RAI1 is a positive regulator of CLOCK, the master regulator of the central circadian cycle. Taken together, these studies have given us insight into the specific molecular changes that contribute to SMS and SMS-like syndromes. We have unveiled pathways and genes which are important to normal human development and behavior and identified novel functions of RAI1. These studies will provide the foundation for the future discovery of the pathways affected.
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Bücher zum Thema "Smith-Magenis syndrom"

1

Parker, James N., und Philip M. Parker. Smith-Magenis syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Dechaine, Shirley. All about Me!: One Family's Experience with Smith-Magenis Syndrome. Mountain Creek Publications, 2005.

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Buchteile zum Thema "Smith-Magenis syndrom"

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Gilbert, Patricia. „Smith—Magenis syndrome“. In The A-Z Reference Book of Syndromes and Inherited Disorders, 280–82. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_74.

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Smith, Ann C. M., und Andrea Gropman. „Smith-Magenis Syndrome“. In Management of Genetic Syndromes, 739–68. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch50.

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Van Haneghan, James P., Harvey N. Switzky und Abigail Baxter. „Smith-Magenis syndrome.“ In Health-related disorders in children and adolescents: A guidebook for understanding and educating., 603–9. Washington: American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-084.

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Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff et al. „Smith-Magenis Syndrome“. In Encyclopedia of Molecular Mechanisms of Disease, 1947–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1640.

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Chen, Harold. „Smith-Magenis Syndrome“. In Atlas of Genetic Diagnosis and Counseling, 2653–59. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_219.

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Chen, Harold. „Smith-Magenis Syndrome“. In Atlas of Genetic Diagnosis and Counseling, 1–7. New York, NY: Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_219-2.

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Greydanus, Donald E., und Joav Merrick. „Smith-Magenis Syndrome“. In Health Care for People with Intellectual and Developmental Disabilities across the Lifespan, 821–25. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-18096-0_69.

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de Leersnyder, Hélène. „Sleep and Circadian Rhythm of Melatonin in Smith-Magenis Syndrome“. In Neuroendocrine Correlates of Sleep/Wakefulness, 259–67. Boston, MA: Springer US, 2006. http://dx.doi.org/10.1007/0-387-23692-9_13.

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„Smith-Magenis Syndrome“. In Atlas of Genetic Diagnosis and Counseling, 1923–28. New York, NY: Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-1037-9_219.

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De Leersnyder, H. „Smith–Magenis syndrome“. In Handbook of Clinical Neurology, 295–96. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-444-52891-9.00034-8.

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