Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2018 1
2019 1
2020 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hyperphosphatasia with intellectual disability syndrome 5"
Page 1
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation (intellectual disability), and Ear anomalies, including conductive hearing loss. Mabry [aka hyperphosphatasia ment …
CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retarda …
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Knaus A, et al. Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19. Hum Mutat. 2016. PMID: 27120253 Free PMC article.
The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability. ...In this work, we describe a screening approach with sequence specific baits for transcript …
The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsy …
Mabry Syndrome in a Child of South Asian Descent.
Sohail AH, Durrani MYK, Ibrahim SH, Humayun KN. Sohail AH, et al. J Coll Physicians Surg Pak. 2018 Sep;28(9):S192-S194. doi: 10.29271/jcpsp.2018.09.S192. J Coll Physicians Surg Pak. 2018. PMID: 30173695
Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. ...More than 20 cases of Mabry syndrome have been reported in medical literature. Herein, we report the case of a six-month child with Mabry syndrome that present …
Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. ...More than 20 cases of Mabry sy …
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PM, Mabry CC. Thompson MD, et al. Eur J Med Genet. 2020 Apr;63(4):103822. doi: 10.1016/j.ejmg.2019.103822. Epub 2019 Dec 2. Eur J Med Genet. 2020. PMID: 31805394
We report that recessive inheritance of a post-GPI attachment to proteins 2 (PGAP2) gene variant results in the hyperphosphatasia with neurologic deficit (HPMRS) phenotype described by Mabry et al., in 1970. HPMRS, or Mabry syndrome, is now known to be one of 21 inh …
We report that recessive inheritance of a post-GPI attachment to proteins 2 (PGAP2) gene variant results in the hyperphosphatasia wit …