Results 111 to 120 of about 1,305 (131)

ADNP syndrome; the pangenome; gender on the spectrum

Spectrum, 2023
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Sex and the Brain: Novel ADNP Syndrome Mice Are Protected by NAP

Biological Psychiatry, 2022
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Mutation in the ADNP gene associated with Noonan syndrome features

Clinical Dysmorphology, 2018
Ebba, Alkhunaizi, Magdalena A, Walkiewicz, David, Chitayat   +2 more
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ADNP syndrom: Klinické indikační markery pro cílené genetické testování

ADNP syndrom (ORPHA: 404448, OMIM: 615873) představuje vzácné neurovývojové onemocnění způsobené heterozygotními mutacemi v genu ADNP na chromozomu 20q13.13. Navzdory tomu, že jde o nejčastější známou monogenní příčinu poruch autistického spektra s odhadovanou prevalencí 0,17 % všech PAS, zůstává v klinické praxi značně poddiagnostikován.
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Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living

Journal of Molecular Neuroscience, 2022
Illana Gozes, Joseph Levine, R Frank Kooy   +2 more
exaly  

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Frontiers in Pediatrics, 2023
Si Yang
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
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Ketamine for treatment of ADNP syndrome and sensory processing deficits

2023
SERMONE SANDRA, DAVIS MATTHEW
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A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome

European Journal of Neuroscience, 2023
Illana Gozes, Shula Shazman
exaly  

PATIENT-SPECIFIC MODELLING OF SYNDROMIC AUTISM: UNCOVERING THE ROLE OF ADNP IN CHROMATIN DYSREGULATION

2022
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