Cargando…

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

BACKGROUND: Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic subtypes. METHODS: A total of 110 PWS patients were diagnosed from 8,572 pediat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Lu, Liu, Xiaoliang, Zhao, Yunjing, Wang, Qingyi, Zhang, Yuanyuan, Gao, Haiming, Zhang, Bijun, Cui, Wanting, Zhao, Yanyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308266/ https://www.ncbi.nlm.nih.gov/pubmed/35870983 http://dx.doi.org/10.1186/s13052-022-01319-1

Ejemplares similares

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders
por: Zhang, Yuanyuan, et al.
Publicado: (2021)

Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome
por: Shepherd, Daisy A., et al.
Publicado: (2020)

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
por: Montes, Andrea S., et al.
Publicado: (2020)

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
por: Cheon, Chong Kun
Publicado: (2016)

Social and emotional processing in Prader-Willi syndrome: genetic subtype differences
por: Key, Alexandra P, et al.
Publicado: (2013)

Genetic Subtype Differences in Neural Circuitry of Food Motivation in Prader-Willi Syndrome
por: Holsen, Laura M., et al.
Publicado: (2008)

Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome
por: Key, Alexandra P., et al.
Publicado: (2017)

Clinical and laboratory characteristics of Prader-Willi syndrome
por: Thao, Bui Phuong, et al.
Publicado: (2013)

TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes
por: Henkhaus, Rebecca S., et al.
Publicado: (2010)

Special Issue: Genetics of Prader–Willi Syndrome
por: Godler, David E., et al.
Publicado: (2021)

Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome
por: Hirsch, Harry J., et al.
Publicado: (2015)

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome
por: Bingeliene, Arina, et al.
Publicado: (2015)

Clinical management of behavioral characteristics of Prader–Willi syndrome
por: Ho, Alan Y, et al.
Publicado: (2010)

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome
por: Grootjen, Lionne N., et al.
Publicado: (2022)

Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
por: Lukoshe, Akvile, et al.
Publicado: (2013)

Epigenetics in Prader-Willi Syndrome
por: Mendiola, Aron Judd P., et al.
Publicado: (2021)

Ovarian cyst torsion in Prader-Willi Syndrome
por: Zhao, Ji-cun, et al.
Publicado: (2023)

Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
por: Yamada, Kenichi, et al.
Publicado: (2020)

Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome
por: Costa, Régis Afonso, et al.
Publicado: (2019)

PSIS With Phenotypic Features of Prader Willi and Fragile X Syndrome
por: Ali, Syeda Fatima, et al.
Publicado: (2021)

The paradox of Prader-Willi syndrome revisited: Making sense of the phenotype
por: Holland, Anthony, et al.
Publicado: (2022)

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism
por: Schaaf, Christian P., et al.
Publicado: (2013)

Prader-Willi Syndrome: Clinical Aspects
por: Elena, Grechi, et al.
Publicado: (2012)

Hyperprolactinemia in Adults with Prader-Willi Syndrome
por: Sjöström, Anna, et al.
Publicado: (2021)

Approach to the Patient With Prader–Willi Syndrome
por: Höybye, Charlotte, et al.
Publicado: (2022)

Sleep Consequences of Prader-Willi Syndrome
por: Itani, Reem, et al.
Publicado: (2023)

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
por: Jin, Dong Kyu
Publicado: (2011)

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
por: Barclay, Sarah F., et al.
Publicado: (2018)

Prader–Willi syndrome: Symptoms and topiramate response in light of genetics
por: Louveau, Cécile, et al.
Publicado: (2023)

Causes of Death in Prader-Willi Syndrome: Prader-Willi Syndrome Association (USA) 40-Year Mortality Survey
por: Butler, Merlin G., et al.
Publicado: (2016)

Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China
por: Lu, Aizhen, et al.
Publicado: (2020)

Distinct promoter regions of the oxytocin receptor gene are hypomethylated in Prader-Willi syndrome and in Prader-Willi syndrome associated psychosis
por: Heseding, Hannah M., et al.
Publicado: (2022)

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome
por: Dykens, Elisabeth M., et al.
Publicado: (2017)

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
por: Dağdeviren Çakır, Aydilek, et al.
Publicado: (2021)

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
por: Liu, Chang, et al.
Publicado: (2019)

Next Steps in Prader-Willi Syndrome Research: On the Relationship between Genotype and Phenotype
por: Whittington, Joyce, et al.
Publicado: (2022)

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings
por: Angulo, M. A., et al.
Publicado: (2015)

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
por: Butler, Merlin G., et al.
Publicado: (2019)

Corrigendum: Prader-Willi syndrome: Symptoms and topiramate response in light of genetics
por: Louveau, Cécile, et al.
Publicado: (2023)

Prader-Willi syndrome: A primer for clinicians
por: Cataletto, Mary, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_va4lij67k770hegrum8i0jk71u