Literature DB >> 3346785

Hyperphosphatasia with mental retardation.

K Kruse1, F Hanefeld, A Kohlschütter, R Rosskamp, G Gross-Selbeck.   

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Year:  1988        PMID： 3346785     DOI： 10.1016/s0022-3476(88)80331-7

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


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  5 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  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

3.  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

4.  Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.

Authors:  Leigh C Carmody; Hannah Blau; Daniel Danis; Xingman A Zhang; Jean-Philippe Gourdine; Nicole Vasilevsky; Peter Krawitz; Miles D Thompson; Peter N Robinson
Journal:  Orphanet J Rare Dis       Date:  2020-02-04       Impact factor: 4.123

Review 5.  Tissue-Nonspecific Alkaline Phosphatase in Central Nervous System Health and Disease: A Focus on Brain Microvascular Endothelial Cells.

Authors:  Divine C Nwafor; Allison L Brichacek; Ahsan Ali; Candice M Brown
Journal:  Int J Mol Sci       Date:  2021-05-17       Impact factor: 5.923
  5 in total

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