Detalhe da pesquisa
1.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
2.
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
J Med Genet
; 54(7): 502-510, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270404
3.
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
Am J Med Genet A
; 170(9): 2445-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374896
4.
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
J Med Genet
; 52(6): 405-12, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755106
5.
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress.
Clin Biochem
; 40(9-10): 666-70, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17466964
6.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Eur J Med Genet
; 60(3): 195-199, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111183
7.
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Eur J Med Genet
; 58(9): 488-91, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26193383
8.
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Gene
; 536(1): 213-6, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24315824
9.
Multiple evidence for an early age pro-oxidant state in Down Syndrome patients.
Biogerontology
; 7(4): 211-20, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16612664