Results 101 to 110 of about 13,790,477 (113)

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity

American Journal of Medical Genetics, Part A
The ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is an autosomal dominant neurodevelopmental disorder caused by heterozygous truncating variants abolishing the homeobox and/or HP1 domains of ADNP. Rare missense changes in the ADNP gene are usually variants of uncertain significance or reclassified as (likely) benign because ...
Orazio Palumbo, Ada Piepoli, Pietro Palumbo   +2 more
exaly   +2 more sources

The De Novo p.( Ser802Phe ) Variant Causes Helsmoortel‐Van der Aa/ ADNP Syndrome in a 24‐Year‐Old Woman and Is Predicted to Perturb ADNP ‐ DNA Affinity

American Journal of Medical Genetics Part A
ABSTRACT The ADNP syndrome, also known as Helsmoortel‐Van der Aa syndrome (HVDAS), is an autosomal dominant neurodevelopmental disorder caused by heterozygous truncating variants abolishing the homeobox and/or HP1 domains of ADNP. Rare missense changes in the
Mario Benvenuto, Marilena Carmela Di Giacomo, Ada Piepoli, Massimo Carella, Paola D'Addetta, Orazio Palumbo, Marco Castori, Pietro Palumbo   +7 more
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Frontiers in Pediatrics, 2023
Si Yang
exaly  

Two Children with Helsmoortel-Van der Aa Syndrome and a Mutation in the ADNP Gene but Variable Clinical Appearance

Neuropediatrics, 2019
Nikoletta Nikolaou, Margarete Koch-Hogrebe, Dagmar Wieczorek, Claudia Roll, Johannes Lemke, Kevin Rostasy   +5 more
openaire   +1 more source

Understanding the functional consequences of mutations in the Helsmoortel-Van der Aa and fragile X syndromes

Abstract: Neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability, are a major societal challenge, affecting over 3% of children worldwide and profoundly impact the lives of patients and their families. This doctoral research focuses on two frequent autistic syndromes with intellectual disability: Helsmoortel-Van der ...
openaire   +1 more source

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

European Journal of Paediatric Neurology, 2018
Emanuele Agolini, Silvia Majore, Maria Cristina Digilio   +2 more
exaly  

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

American Journal of Medical Genetics Part A, 2017
Chumei, Li, Yongdong, Wang, Marta, Szybowska   +2 more
openaire   +2 more sources

Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American Journal of Medical Genetics Part A, 2016
Małgorzata Krajewska‐Walasek, Dorota Jurkiewicz, Dorota Piekutowska‐Abramczuk, Marzena Kucharczyk, Krystyna H. Chrzanowska, Aleksandra Jezela‐Stanek, Elżbieta Ciara   +6 more
openaire   +1 more source

Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American Journal of Medical Genetics, Part A, 2016
Małgorzata Krajewska-Walasek, Aleksandra Jezela-Stanek, Elżbieta Ciara   +2 more
exaly  

Rare occipital dermoid cyst infection due to Corynebacterium striatum in a child with Helsmoortel-Van der Aa syndrome

The American Journal of the Medical Sciences
NT Tran, H Imran, S Tengsupakul
openaire   +1 more source