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1.
Sumoylation at chromatin governs coordinated repression of a transcriptional program essential for cell growth and proliferation.
Genome Res
; 23(10): 1563-79, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23893515
2.
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Am J Hum Genet
; 83(1): 18-29, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18538293
3.
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Hum Mutat
; 30(4): E541-54, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19177455
4.
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Hum Mutat
; 30(10): E921-35, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19603532
5.
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Hum Genet
; 125(4): 393-400, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19184110
6.
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Mol Genet Metab
; 98(1-2): 225-34, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19553149
7.
Risk classification at the time of diagnosis differentially affects the level of residual disease in children with B-precursor acute lymphoblastic leukemia after completion of therapy.
Leuk Res
; 27(8): 743-50, 2003 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-12801533
8.
An early requirement for maternal FoxH1 during zebrafish gastrulation.
Dev Biol
; 310(1): 10-22, 2007 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17719025
9.
Functional analysis of mutations in TGIF associated with holoprosencephaly.
Mol Genet Metab
; 90(1): 97-111, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-16962354
10.
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
Hum Genet
; 115(6): 510-4, 2004 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-15365816
11.
Residual leukaemia after bone marrow transplant in children with acute lymphoblastic leukaemia after first haematological relapse or with poor initial presenting features.
Br J Haematol
; 120(4): 711-5, 2003 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-12588362
12.
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