ArticleAmerican journal of human genetics1994
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 125 citations in OpenAlex.
- Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.European journal of human genetics : EJHG · 2018Pooled it
- Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.Clinical genetics · 2026Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.Cellular and molecular neurobiology · 2022Review
- Phelan-McDermid syndrome: a classification system after 30 years of experience.Orphanet journal of rare diseases · 2022Article
- Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.Molecular autism · 2021Article
- Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.European journal of human genetics : EJHG · 2021Article
- A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.Orphanet journal of rare diseases · 2020Article
- The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.Epilepsia · 2016Article
- Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Journal of child neurology · 2015Review
- Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.Molecular autism · 2014Article
- Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2014Review
- Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.PloS one · 2014Article
- Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?Journal of neurology · 2013Article
- Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Molecular autism · 2013Article
- Studying autism in rodent models: reconciling endophenotypes with comorbidities.Frontiers in human neuroscience · 2013Article
- Ring chromosome 22: a review of the literature and first report from India.Balkan journal of medical genetics : BJMG · 2012Article
- The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).Molecular syndromology · 2012Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.
Indexed as
Identifiers
7906921PMC1918126W1560195769What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.