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Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium; van Balkom IDC. van Eeghen AM, et al. Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30. Eur J Med Genet. 2023. PMID: 37003574 Free article.
This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physici …
This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles w …
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J. Cammarata-Scalisi F, et al. Genes (Basel). 2022 Mar 12;13(3):504. doi: 10.3390/genes13030504. Genes (Basel). 2022. PMID: 35328058 Free PMC article. Review.
The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of r …
The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by geneti …
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD. Harony-Nicolas H, et al. J Child Neurol. 2015 Dec;30(14):1861-70. doi: 10.1177/0883073815600872. Epub 2015 Sep 8. J Child Neurol. 2015. PMID: 26350728 Free PMC article. Review.
Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encoding a structural component of excitatory synapses indispensable for proper synaptogenesis and neuronal physiology, or point mutations within …
Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encod …
Consensus recommendations on mental health issues in Phelan-McDermid syndrome.
van Balkom IDC, Burdeus-Olavarrieta M, Cooke J, de Cuba AG, Turner A; European Phelan-McDermid Syndrome consortium; Vogels A, Maruani A. van Balkom IDC, et al. Eur J Med Genet. 2023 Jun;66(6):104770. doi: 10.1016/j.ejmg.2023.104770. Epub 2023 Apr 20. Eur J Med Genet. 2023. PMID: 37085014 Free article.
This publication delineates mental health, developmental and behavioural themes across the lifetime of individuals with PMS as informed by parents/caregivers, experts, and other key professionals involved in PMS care. We put forward several recommendations based on the ava …
This publication delineates mental health, developmental and behavioural themes across the lifetime of individuals with PMS as informed by p …
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.
Burdeus-Olavarrieta M, Nevado J, van Weering-Scholten S, Parker S; European Phelan-McDermid syndrome consortium; Swillen A. Burdeus-Olavarrieta M, et al. Eur J Med Genet. 2023 May;66(5):104745. doi: 10.1016/j.ejmg.2023.104745. Epub 2023 Mar 5. Eur J Med Genet. 2023. PMID: 36871884 Free article.
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical chara …
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogeni …
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.
Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR. Boggula VR, et al. Indian J Med Res. 2014 Jan;139(1):66-75. Indian J Med Res. 2014. PMID: 24604040 Free PMC article.
METHODS: A total of 203 randomly selected DD/ID cases with/without malformations were studied. MLPA probe sets for subtelomeric regions (P070/P036) and common microdeletions/microduplications (P245-A2) and X-chromosome (P106) were used. ...The subtelomeric abnormalities de …
METHODS: A total of 203 randomly selected DD/ID cases with/without malformations were studied. MLPA probe sets for subtelomeric regions …
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Oberman LM, et al. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9. Orphanet J Rare Dis. 2015. PMID: 26306707 Free PMC article.
The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. ...There also appears to be con …
The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in …
The impact of genotype on outcome in oligodendroglioma: validation of the loss of chromosome arm 1p as an important factor in clinical decision making.
Kanner AA, Staugaitis SM, Castilla EA, Chernova O, Prayson RA, Vogelbaum MA, Stevens G, Peereboom D, Suh J, Lee SY, Tubbs RR, Barnett GH. Kanner AA, et al. J Neurosurg. 2006 Apr;104(4):542-50. doi: 10.3171/jns.2006.104.4.542. J Neurosurg. 2006. PMID: 16619658
Anaplastic oligodendrogliomas with allelic loss of 1p have been associated with chemosensitivity and a longer patient survival period. METHODS: Oligodendroglial neoplasms were studied using fluorescence in situ hybridization of formalin-fixed, paraffin-embedded tissue spec …
Anaplastic oligodendrogliomas with allelic loss of 1p have been associated with chemosensitivity and a longer patient survival period …
Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M. Kjaergaard S, et al. Prenat Diagn. 2010 Oct;30(10):995-9. doi: 10.1002/pd.2604. Prenat Diagn. 2010. PMID: 20824892
OBJECTIVE: The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciproc …
OBJECTIVE: The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) …
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