An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
KGCB Bindels‐de Heus, SE Mous… - American Journal of …, 2020 - Wiley Online Library
This study presents a broad overview of health issues and psychomotor development of 100
children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in …
children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in …
[HTML][HTML] The incisive canal: a comprehensive review
The incisive canal, also known as the nasopalatine canal, is an interosseous conduit
through the anterior maxilla connecting the oral and nasal cavities. Within this canal lies the …
through the anterior maxilla connecting the oral and nasal cavities. Within this canal lies the …
Measuring what matters to individuals with Angelman syndrome and their families: development of a patient-centered disease concept model
T Willgoss, D Cassater, S Connor, ML Krishnan… - Child Psychiatry & …, 2021 - Springer
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental
disorder. Despite the considerable impact on individuals and caregivers, no disease …
disorder. Despite the considerable impact on individuals and caregivers, no disease …
Psychiatric comorbidities in neurodevelopmental disorders
BH King - Current Opinion in Neurology, 2016 - journals.lww.com
As there have been advances in our collective understanding of the genetic underpinnings
of certain disorders and the downstream physiological consequences of those genetic …
of certain disorders and the downstream physiological consequences of those genetic …
The face of Glut1‐DS patients: A 3D craniofacial morphometric analysis
V Pucciarelli, S Bertoli, M Codari, R De Amicis… - Clinical …, 2017 - Wiley Online Library
Glut1 deficiency syndrome (Glut1‐DS) is a neurological and metabolic disorder caused by
impaired transport of glucose across the blood brain barrier (BBB). Mutations on the …
impaired transport of glucose across the blood brain barrier (BBB). Mutations on the …
Benefits and limitations of prenatal screening for Prader–Willi syndrome
MG Butler - Prenatal diagnosis, 2017 - Wiley Online Library
This review summarizes the status of genetic laboratory testing in Prader–Willi syndrome
(PWS) with different genetic subtypes, most often a paternally derived 15q11–q13 deletion …
(PWS) with different genetic subtypes, most often a paternally derived 15q11–q13 deletion …
Angelman syndrome
JM Mathews, ER Jalazo - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
Angelman syndrome (AS) is a rare neurodevelopmental condition characterized by
significant developmental delay and speech impairment, a movement/balance disorder with …
significant developmental delay and speech impairment, a movement/balance disorder with …
Basics of Developmental Disorders of Speech and Language
A am Zehnhoff-Dinnesen, DM Denk-Linnert… - … I: Fundamentals–Voice …, 2019 - Springer
The development of speech and language from infancy to around 4 years of age is a central
issue and thus a useful indicator of a child's overall development. Any impairment in this …
issue and thus a useful indicator of a child's overall development. Any impairment in this …
[HTML][HTML] Angelman syndrome? fenotype features and oral health status
A Witt-Porczyk, P Piekoszewska-Ziętek… - Nowa …, 2024 - czytelniamedyczna.pl
Wstęp. Zespół Angelmana jest rzadko występującą chorobą neurogenetyczną o
niewyjaśnionej ostatecznie etiologii. Obraz kliniczny jest zróżnicowany w zależności od …
niewyjaśnionej ostatecznie etiologii. Obraz kliniczny jest zróżnicowany w zależności od …
[HTML][HTML] Zespół Angelmana–cechy fenotypowe i stan zdrowia jamy ustnej
A Witt-Porczyk, P Piekoszewska-Ziętek… - Nowa …, 2024 - czytelniamedyczna.pl
Wstęp. Zespół Angelmana jest rzadko występującą chorobą neurogenetyczną o
niewyjaśnionej ostatecznie etiologii. Obraz kliniczny jest zróżnicowany w zależności od …
niewyjaśnionej ostatecznie etiologii. Obraz kliniczny jest zróżnicowany w zależności od …