Detalhe da pesquisa
1.
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
Am J Med Genet A
; 170(12): 3133-3137, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27642715
2.
Imprinted Gene Expression and Function of the Dopa Decarboxylase Gene in the Developing Heart.
Front Cell Dev Biol
; 9: 676543, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34239874
3.
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
Nat Commun
; 12(1): 2444, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33953184
4.
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
Am J Med Genet A
; 152A(8): 1942-50, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602488
5.
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Orphanet J Rare Dis
; 14(1): 104, 2019 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077240
6.
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Clin Dysmorphol
; 17(4): 229-41, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18978650
7.
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Orphanet J Rare Dis
; 13(1): 47, 2018 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618366
8.
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
Ther Apher Dial
; 20(3): 318-21, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27312922
9.
A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.
PeerJ
; 2: e354, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24795849
10.
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
Eur J Hum Genet
; 20(1): 122-4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21712856
11.
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Nat Genet
; 43(4): 303-5, 2011 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21378985