Results 101 to 110 of about 1,305 (131)

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

Rizzuti L, Vitriolo A, Mariana PdA, Pereira MF, Meert L, Dossena F, Prazzoli F, Dekker M, Dekkers DH, Demmers J, van IJcken WF, Soriani C, Gabriele M, Mohiuddin M, Van Dijck A, Finazzi V, Trattaro S, Pallotta D, Tenderini E, Vulto-van Silfhout AT, de Vries BBA, Eichler EE, Pearson CE, Kooy RF, Poot R, Testa G.   +25 more
europepmc   +1 more source

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome

European Journal of Medical Genetics, 2023
ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder.
Anna C Jansen, Michael Aertsen, Jessica Rosenblum   +2 more
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

All in the Family

Clinical Nurse Specialist, 2022
Purpose The overarching purpose of this research was to examine the experiences of 1 family living with a child with Helsmoortel-Van Der Aa syndrome or activity-dependent neuroprotective protein (ADNP) syndrome. Design A retrospective qualitative design was used for this study.
Paula C, Fletcher, Stephanie, Pollock, Nicole, Luymes, Pamela J, Bryden   +3 more
openaire   +2 more sources

Comparative study on predicting ADNP syndrome using deep learning algorithms

2021 2nd International Conference on Smart Electronics and Communication (ICOSEC), 2021
Helsmoortel Van der Aa syndrome also known as ADNP syndrome is a neurological disorder which is caused by genetic changes in the ADNP gene. These genetic mutations occur impulsively in most patients, showing that there has been no family history of the disorder.
V. Uday Kumar, P. Dundy Sai Maruthi, P. Viswa Teja, A. Venkata Sai   +3 more
exaly   +2 more sources

[Analysis of clinical features and ADNP variant in a child with Helsmoortel-Van der Aa syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS).Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review.The child has featured peculiar facies, accompanied by autism ...
Wei, Shen, Wei, Chen, Juan, Lu, Haoquan, Zhou   +3 more
openaire   +2 more sources

Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies

Biological Psychiatry, 2022
ADNP is essential for embryonic development. As such, de novo ADNP mutations lead to an intractable autism/intellectual disability syndrome requiring investigation.Mimicking humans, CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 editing produced mice carrying heterozygous Adnp p.Tyr718∗ (Tyr), a paralog of the most common ADNP ...
Petr Kašpárek, Markus Heimesaat, Paschalis Theotokis   +2 more
exaly   +3 more sources

[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing.
Jian, Ma, Haixia, Ma, Kaihui, Zhang, Yuqiang, Lyu, Min, Gao, Dong, Wang, Zhongtao, Gai, Yi, Liu   +7 more
openaire   +1 more source

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene

American Journal of Medical Genetics Part A, 2017
Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel‐van der Aa syndrome. Among 17 previously reported patients with Helsmoortel‐van der Aa syndrome, one patient exhibited blepharophimosis.
Toshiki, Takenouchi, Tomoru, Miwa, Yoshiaki, Sakamoto, Yuri, Sakaguchi, Tomoko, Uehara, Takao, Takahashi, Kenjiro, Kosaki   +6 more
openaire   +2 more sources

[Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis.Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized.
Xiu, Zhao, Zhe, Su, Zhongwei, Xu, Huiping, Su, Rongfei, Zheng   +4 more
openaire   +1 more source

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