Results 11 to 20 of about 13,790,477 (113)

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Abstract Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability.
Stefano D'Arrigo, Diana Carli, Jack Reilly   +2 more
exaly   +12 more sources

Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome. [PDF]

Int J Environ Res Public Health, 2021
Aim: Aim of this case report is to describe oro-facial abnormalities in a patient affected by Helsmoortel-Van der Aa syndrome, a rare autism syndrome, with not well described dental and cranial malformations. Case Report: Helsmoortel-Van der Aa Syndrome is a rare autosomal genetic syndrome causing mental impairment and autism, craniofacial dysmorphism,
Petruzzi M, Stella A, Capra V, Contaldo M, Della Vella F.   +4 more
europepmc   +9 more sources

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. [PDF]

Am J Hum Genet, 2020
Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent neuroprotective protein (ADNP).
Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S.   +28 more
europepmc   +13 more sources

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies. [PDF]

Genes (Basel), 2022
The ADNP-gene-related neurodevelopmental disorder Helsmoortel–Van der Aa syndrome is a rare syndromic-intellectual disability—an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental
Szabó TM, Balogh I, Ujfalusi A, Szűcs Z, Madar L, Koczok K, Bessenyei B, Csürke I, Szakszon K.   +8 more
europepmc   +5 more sources

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome. [PDF]

Eur J Hum Genet
Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whereas exome sequencing failed to detect the non-coding deletion, genome-wide CpG methylation analysis revealed
D'Incal CP, Annear DJ, Elinck E, van der Smagt JJ, Alders M, Dingemans AJM, Mateiu L, de Vries BBA, Vanden Berghe W, Kooy RF.   +9 more
europepmc   +11 more sources

Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report [PDF]

Journal of Medical Case Reports
Background Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism ...
Ebtesam Al‑Enezi, Mohannad Alghamdi, Khaled Al‑Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid   +5 more
doaj   +5 more sources

Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Эпилепсия и пароксизмальные состояния, 2020
Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +4 more sources

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series

American Journal of Medical Genetics, Part A
Abstract The neurodevelopmental disorder known as Helsmoortel‐van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity‐dependent neuroprotective protein; MIM*611386) in several ...
Giovanni Di Zenzo, Illana Gozes, Giulia Pascolini   +2 more
exaly   +4 more sources

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome. [PDF]

Eur J Hum Genet, 2018
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability ...
Huynh MT, Boudry-Labis E, Massard A, Thuillier C, Delobel B, Duban-Bedu B, Vincent-Delorme C.   +6 more
europepmc   +5 more sources

Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van Der Aa syndrome autopsy case

Acta Neuropathologica Communications
Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, Claudia Theys, Illana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy   +15 more
doaj   +3 more sources