Related references
Note: Only part of the references are listed.Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes
Arianna Ricciardello et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome
Willem M. A. Verhoeven et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
Teresa M. Kohlenberg et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2020)
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome
Kellie Gergoudis et al.
AUTISM RESEARCH (2020)
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Na Xu et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome
Gilles Droogmans et al.
MOLECULAR SYNDROMOLOGY (2020)
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti et al.
GENETICS IN MEDICINE (2019)
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants
Paolo E. Maltese et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Claudia Ismania Samogy-Costa et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2019)
State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder
Audrey Thurm et al.
FRONTIERS IN PSYCHIATRY (2019)
Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family
Robert P. Erickson et al.
CLINICAL GENETICS (2019)
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
Alexander Kolevzon et al.
MOLECULAR AUTISM (2019)
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Silvia De Rubeis et al.
MOLECULAR AUTISM (2018)
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C
Jariya Upadia et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome
Pietro Palumbo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet et al.
NPJ GENOMIC MEDICINE (2017)
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
Lindsay M. Oberman et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
A Patient With the Classic Features of Phelan-McDermid Syndrome and a High Immunoglobulin E Level Caused by a Cryptic Interstitial 0.72-Mb Deletion in the 22q13.2 Region
Kristi Simenson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Vittoria Disciglio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome
Sara M. Sarasua et al.
GENETICS IN MEDICINE (2014)
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome
Sara M. Sarasua et al.
HUMAN GENETICS (2014)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond et al.
PLOS GENETICS (2014)
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Alexander Kolevzon et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2014)
Phelan-McDermid syndrome: Clinical report of a 70-year-old woman
Willem M. A. Verhoeven et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Catalina Betancur et al.
MOLECULAR AUTISM (2013)
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Latha Soorya et al.
MOLECULAR AUTISM (2013)
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion
Ksenija Vucurovic et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills
A. Denayer et al.
MOLECULAR SYNDROMOLOGY (2012)
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
Sara M. Sarasua et al.
JOURNAL OF MEDICAL GENETICS (2011)
22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH
S. U. Dhar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Characterizing communicative development in children referred for Autism Spectrum Disorders using the MacArthur-Bates Communicative Development Inventory (CDI)
Rhiannon Luyster et al.
JOURNAL OF CHILD LANGUAGE (2007)
The repetitive behavior scale-revised: Independent validation in individuals with autism spectrum disorders
Kristen S. L. Lam et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
Sensory processing in children with and without autism: A comparative study using the short sensory profile
Scott D. Tomchek et al.
AMERICAN JOURNAL OF OCCUPATIONAL THERAPY (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
M. C. Bonaglia et al.
JOURNAL OF MEDICAL GENETICS (2006)
Molecular and phenotypic characterization of ring chromosome 22
AR Jeffries et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
JJ Luciani et al.
JOURNAL OF MEDICAL GENETICS (2003)
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
HL Wilson et al.
JOURNAL OF MEDICAL GENETICS (2003)
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
MC Bonaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Share Paper
