Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
2.
Disruption of regulatory domains and novel transcripts as disease-causing mechanisms.
Bioessays
; 45(10): e2300010, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381881
3.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
4.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
5.
Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity.
Cell Rep
; 42(1): 111975, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36641754
6.
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.
Am J Med Genet A
; 158A(7): 1782-4, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644616
7.
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. / Le syndrome 49, XXXXY : nouvelle description de ses répercussions clinicobiologiques chez un patient adulte.
Ann Biol Clin (Paris)
; 72(3): 371-7, 2014.
Artigo
em Francês
| MEDLINE | ID: mdl-24876149
8.
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Eur J Hum Genet
; 20(12): 1216-23, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22739344
9.
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis.
Pathology
; 43(5): 447-52, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21716161