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18 in total

Review 1. Clinical practice. Hypoparathyroidism.

Authors: Dolores Shoback
Journal: N Engl J Med Date: 2008-07-24 Impact factor: 91.245

2. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

Authors: Nicolas Richard; Genevieve Abeguilé; Nadia Coudray; Hervé Mittre; Nicolas Gruchy; Joris Andrieux; Pascal Cathebras; Marie-Laure Kottler
Journal: J Clin Endocrinol Metab Date: 2012-02-29 Impact factor: 5.958

3. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Authors: Susanne Thiele; Luisa de Sanctis; Ralf Werner; Joachim Grötzinger; Cumhur Aydin; Harald Jüppner; Murat Bastepe; Olaf Hiort
Journal: Hum Mutat Date: 2011-04-12 Impact factor: 4.878

4. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Authors: Agnès Linglart; Robert C Gensure; Robert C Olney; Harald Jüppner; Murat Bastepe
Journal: Am J Hum Genet Date: 2005-03-30 Impact factor: 11.025

Review 5. A review of drug-induced hypocalcemia.

Authors: George Liamis; Haralampos J Milionis; Moses Elisaf
Journal: J Bone Miner Metab Date: 2009 Impact factor: 2.626

6. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Authors: Murat Bastepe; Leopold F Fröhlich; Agnès Linglart; Hilal S Abu-Zahra; Katsuyoshi Tojo; Leanne M Ward; Harald Jüppner
Journal: Nat Genet Date: 2004-12-12 Impact factor: 38.330

7. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Authors: J Liu; D Litman; M J Rosenberg; S Yu; L G Biesecker; L S Weinstein
Journal: J Clin Invest Date: 2000-11 Impact factor: 14.808

Review 8. Genetic disorders and defects in vitamin d action.

Authors: Peter J Malloy; David Feldman
Journal: Endocrinol Metab Clin North Am Date: 2010-06 Impact factor: 4.741

9. 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

10. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Authors: H Jüppner; E Schipani; M Bastepe; D E Cole; M L Lawson; M Mannstadt; G N Hendy; H Plotkin; H Koshiyama; T Koh; J D Crawford; B R Olsen; M Vikkula
Journal: Proc Natl Acad Sci U S A Date: 1998-09-29 Impact factor: 11.205