The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients
Abstract
Prader-Willi syndrome (PWS) can result from a 15q11-q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the phenotypic variability detected in 51 patients with different types of deletions and 24 patients with UPD. Although no statistically significant differences could be demonstrated between the two main types of PWS deletion patients, it was observed that type I (BP1-BP3) patients acquired speech later than type II (BP2-BP3) patients. Comparing the clinical pictures of our patients with UPD with those with deletions, we found that UPD children presented with lower birth length and started walking earlier and deletion patients presented with a much higher incidence of seizures than UPD patients. In addition, the mean maternal age in the UPD group was higher than in the deletion group. No statistically significant differences could be demonstrated between the deletion and the UPD group with respect to any of the major features of PWS. In conclusion, our study did not detect significant phenotypic differences among type I and type II PWS deletion patients, but it did demonstrate that seizures were six times more common in patients with a deletion than in those with UPD.
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“Varela et al. [10] found that individuals with PWS having 15q11–q13 type I deletions acquired speech later than those with type II deletions.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [10]
In the citing paper
“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [10]
Citations
Cites
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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
Ohta, T., Gray, T. A., Rogan, P. K., Buiting, K., Gabriel, J. M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska‐Walasek, M., Driscoll, D. J., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302233 · Cited by 276
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NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
Rainier, S., Chai, J.-H., Tokarz, D., Nicholls, R. D., & Fink, J. K. (2003) · The American Journal of Human Genetics · doi:10.1086/378817 · Cited by 207
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Rudd, D. S. (2014) · doi:10.17077/etd.ezs0wnfu
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Lennox-gastaut syndrome in a pediatric patient with prader-willi syndrome: A case report and review
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Zhang, L., Liu, X., Zhao, Y., Wang, Q., Zhang, Y., Gao, H., Zhang, B., Cui, W., & Zhao, Y. (2022) · Figshare · doi:10.6084/m9.figshare.20367024
Bahsi, P., UZUNER, S. Y., Karaüzüm, S. B., Nur, B. G., Mıhçı, E., & Hapil, F. Z. (2026) · Akdeniz Medical Journal · doi:10.53394/akd.1632881
Congenital, Non-inheritable Chromosomal Abnormalities Responsible for Neurological Disorders
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Alfaro, D. L. P. (2021) · theses.fr (ABES) · doi:10.70675/7abf5a7fz5e28z4440zb34dzb8dd504813b4
Metadata
- Authors
- Varela, M., Kok, F., Setian, N., Kim, C., & Koiffmann, C.
- Affiliations
- Universidade de São Paulo (BR)
- ORCID
- Kok, F
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2004-12-22
- Volume
- 67
- Issue
- 1
- Pages
- 47-52
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1578646984
- Cited by
- 117
- References
- 28
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 8 · 2021: 4 · 2020: 5 · 2019: 5 · 2018: 3 · 2017: 6 · 2016: 6 · 2015: 5 · 2014: 6 · 2013: 7 · 2012: 6
- FWCI
- 3.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Prader-Willi syndrome, uniparental disomy, genomic imprinting, phenotypic variability, deletion size, speech development, seizures, birth length, walking age, maternal age
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Mapping, Female, Humans, Infant, Infant, Newborn, Karyotyping, Language Development Disorders, Male, Maternal Age, Phenotype, Prader-Willi Syndrome, Seizures, Sequence Deletion, Uniparental Disomy, Inheritance Patterns
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