Results 11 to 20 of about 13,790,427 (112)

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.
Petruzzi M, Stella A, Capra V, Contaldo M, Della Vella F.   +4 more
europepmc   +5 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   +3 more sources

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, Volume 196, Issue 4, December 2024.
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.
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L. Tedder, Cindy Skinner, Mariëlle Alders, Peter Henneman, Raoul C. M. Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Faivre, Sacha Weber, Aline Vincent‐Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B. Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti‐Pierri   +32 more
wiley   +4 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   +2 more sources

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance [PDF]

Diagnostics
Background/Objectives: Helsmoortel–Van der Aa syndrome (HVDAS), or ADNP syndrome, is a neurodevelopmental disorder characterized by cognitive deficits, dysmorphic features, and multisystem involvement. While typically arising de novo, familial cases with
Ahmet Kablan, Abdullah Sezer, Atakan Deniz, Elifcan Taşdelen, Firdevs Dinçsoy Bir, Abdulkerim Kolkıran, Melike Ataseven Kulalı, Kerem Teralı, Emregül Işık   +8 more
doaj   +2 more sources

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations. [PDF]

Genet Res (Camb)
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single‐nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics.
Wang Z, Zhao Y, Yang S, Wang Y, Wang L.
europepmc   +2 more sources

Transient visual evoked potential abnormalities in ADNP syndrome [PDF]

Journal of Neurodevelopmental Disorders
Background ADNP syndrome is a rare genetic disorder associated with global developmental delay/intellectual disability, autism, aberrant behavior, and medical comorbidities. Sensory symptoms represent a core clinical feature, even in those without autism
Tess Levy, Hailey Silver, Nurit Benrey, Abigail Siegel, Christina Layton, Vance Zemon, James Gordon, Joseph D. Buxbaum, Alexander Kolevzon, Paige M. Siper   +9 more
doaj   +2 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.
Szabó TM, Balogh I, Ujfalusi A, Szűcs Z, Madar L, Koczok K, Bessenyei B, Csürke I, Szakszon K.   +8 more
europepmc   +2 more sources

Clinical impact and in vitro characterization of ADNP variants in pediatric patients [PDF]

Molecular Autism
Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome.
Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu   +12 more
doaj   +2 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.
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   +3 more sources