Literature DB >> 5465362

Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits.

C C Mabry, A Bautista, R F Kirk, L D Dubilier, H Braunstein, J A Koepke.   

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Year:  1970        PMID： 5465362     DOI： 10.1016/s0022-3476(70)80047-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  12 in total

1.  Histochemical and cytochemical studies of alkaline phosphatase activity in the synapses of rat brain.

Authors:  K Sugimura; A Mizutani
Journal:  Histochemistry       Date:  1979-06-18

2.  Mental retardation, elevated alkaline phosphatase, convulsive disorder and thickening of calvarium.

Authors:  L S Taitz
Journal:  Proc R Soc Med       Date:  1973-03

3.  Evidence for infectious origin of isolated transient hyperphosphatasemia.

Authors:  U Frank; K Kruse
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

4.  Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Authors:  Peter M Krawitz; Yoshiko Murakami; Jochen Hecht; Ulrike Krüger; Susan E Holder; Geert R Mortier; Barbara Delle Chiaie; Elfride De Baere; Miles D Thompson; Tony Roscioli; Szymon Kielbasa; Taroh Kinoshita; Stefan Mundlos; Peter N Robinson; Denise Horn
Journal:  Am J Hum Genet       Date:  2012-06-07       Impact factor: 11.025

5.  A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Authors:  Kathryn J Swoboda; Rebecca L Margraf; John C Carey; Holly Zhou; Tara M Newcomb; Emily Coonrod; Jacob Durtschi; Kalyan Mallempati; Attila Kumanovics; Ben E Katz; Karl V Voelkerding; John M Opitz
Journal:  Am J Med Genet A       Date:  2013-11-20       Impact factor: 2.802

6.  Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Authors:  Peter M Krawitz; Michal R Schweiger; Christian Rödelsperger; Carlo Marcelis; Uwe Kölsch; Christian Meisel; Friederike Stephani; Taroh Kinoshita; Yoshiko Murakami; Sebastian Bauer; Melanie Isau; Axel Fischer; Andreas Dahl; Martin Kerick; Jochen Hecht; Sebastian Köhler; Marten Jäger; Johannes Grünhagen; Birgit Jonske de Condor; Sandra Doelken; Han G Brunner; Peter Meinecke; Eberhard Passarge; Miles D Thompson; David E Cole; Denise Horn; Tony Roscioli; Stefan Mundlos; Peter N Robinson
Journal:  Nat Genet       Date:  2010-08-29       Impact factor: 38.330

7.  PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Authors:  Peter M Krawitz; Yoshiko Murakami; Angelika Rieß; Marja Hietala; Ulrike Krüger; Na Zhu; Taroh Kinoshita; Stefan Mundlos; Jochen Hecht; Peter N Robinson; Denise Horn
Journal:  Am J Hum Genet       Date:  2013-04-04       Impact factor: 11.025

8.  Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders.

Authors:  Ruqaiah Altassan; Stephanie Fox; Chantal Poulin; Daniela Buhas
Journal:  Mol Genet Metab Rep       Date:  2018-02-06

9.  TNAP and EHD1 are over-expressed in bovine brain capillary endothelial cells after the re-induction of blood-brain barrier properties.

Authors:  Barbara Deracinois; Sophie Duban-Deweer; Gwënaël Pottiez; Roméo Cecchelli; Yannis Karamanos; Christophe Flahaut
Journal:  PLoS One       Date:  2012-10-31       Impact factor: 3.240

10.  Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Authors:  Alexej Knaus; Tomonari Awaya; Ingo Helbig; Zaid Afawi; Manuela Pendziwiat; Jubran Abu-Rachma; Miles D Thompson; David E Cole; Steve Skinner; Fran Annese; Natalie Canham; Michal R Schweiger; Peter N Robinson; Stefan Mundlos; Taroh Kinoshita; Arnold Munnich; Yoshiko Murakami; Denise Horn; Peter M Krawitz
Journal:  Hum Mutat       Date:  2016-05-19       Impact factor: 4.878
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