Detalhe da pesquisa
1.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
2.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
3.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
4.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
5.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
J Am Soc Nephrol
; 25(10): 2366-75, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700880
6.
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.
Bioinformatics
; 28(14): 1879-86, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611130
7.
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.
Calcif Tissue Int
; 93(2): 155-62, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23700148
8.
A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
J Cell Biochem
; 113(7): 2432-41, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573557
9.
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
J Clin Invest
; 117(9): 2684-91, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17710231
10.
Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects.
Biochem Biophys Res Commun
; 398(3): 513-8, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20599764
11.
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Am J Med Genet A
; 152A(4): 896-903, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358599
12.
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532877
13.
Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults.
Calcif Tissue Int
; 84(2): 97-102, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19093065
14.
Discordance for X-linked hypophosphataemic rickets in identical twin girls.
Horm Res
; 71(4): 237-44, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19258716
15.
An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.
Ann Indian Acad Neurol
; 22(3): 327-331, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31359949
16.
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Bone
; 43(4): 663-6, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18625346
17.
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
J Clin Invest
; 128(12): 5368-5373, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30226830
18.
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
J Clin Endocrinol Metab
; 92(5): 1943-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17311862
19.
A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
Endocrinology
; 158(3): 470-476, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28005411
20.
Human ALOX12, but not ALOX15, is associated with BMD in white men and women.
J Bone Miner Res
; 21(4): 556-64, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16598376