Literature DB >> 10657150

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13.

M Bastepe1, J E Pincus, H Jüppner.   

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Year:  1999        PMID： 10657150     DOI： 10.1006/mcpr.1999.0271

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN： 0890-8508            Impact factor:   2.365


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  3 in total

1.  Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Authors:  M Bastepe; A H Lane; H Jüppner
Journal:  Am J Hum Genet       Date:  2001-04-09       Impact factor: 11.025

2.  SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

Authors:  Clemens Bergwitz; Nicole M Roslin; Martin Tieder; J C Loredo-Osti; Murat Bastepe; Hilal Abu-Zahra; Danielle Frappier; Kelly Burkett; Thomas O Carpenter; Donald Anderson; Michele Garabedian; Isabelle Sermet; T Mary Fujiwara; Kenneth Morgan; Harriet S Tenenhouse; Harald Juppner
Journal:  Am J Hum Genet       Date:  2005-12-09       Impact factor: 11.025

3.  Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Authors:  Murat Bastepe; Leopold F Fröhlich; Geoffrey N Hendy; Olafur S Indridason; Robert G Josse; Hiroyuki Koshiyama; Jarmo Körkkö; Jon M Nakamoto; Arlan L Rosenbloom; Arnold H Slyper; Toshitsugu Sugimoto; Agathocles Tsatsoulis; John D Crawford; Harald Jüppner
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808
  3 in total

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