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1.
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Front Endocrinol (Lausanne)
; 12: 736240, 2021.
Article
in English
| MEDLINE | ID: mdl-34721296
2.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
J Bone Miner Res
; 35(5): 913-919, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31886927
3.
Molecular characterization of a recurrent 10.9â¯kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
Eur J Med Genet
; 62(11): 103577, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-30423445
4.
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.
Bone
; 123: 145-152, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30905746
5.
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
J Bone Miner Res
; 32(9): 1893-1899, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28548312
6.
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
J Clin Endocrinol Metab
; 98(9): E1549-56, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23884777
7.
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
J Clin Endocrinol Metab
; 97(5): E863-7, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22378814
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