Detalhe da pesquisa
1.
A specific mutation in TBL1XR1 causes Pierpont syndrome.
J Med Genet
; 53(5): 330-7, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26769062
2.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Hum Mutat
; 34(2): 296-300, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086778
3.
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Eur J Hum Genet
; 22(4): 480-5, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23900271
4.
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Eur J Hum Genet
; 20(2): 161-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21934709
5.
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Eur J Hum Genet
; 19(11): 1152-60, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21712853
6.
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.
Eur J Med Genet
; 53(5): 344-6, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20553986
7.
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Cardiovasc Res
; 88(1): 130-9, 2010 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20519243
8.
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Eur J Med Genet
; 52(2-3): 116-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19452620
9.
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Eur J Med Genet
; 52(2-3): 108-15, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19328872
10.
Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).
Am J Med Genet A
; 137A(3): 313-22, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16092121
11.
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.
Am J Med Genet A
; 137(1): 77-80, 2005 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16007632
12.
Toriello-Carey syndrome: delineation and review.
Am J Med Genet A
; 123A(1): 84-90, 2003 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14556252