Detalhe da pesquisa
1.
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
Am J Med Genet A
; 176(2): 319-329, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194955
2.
Pallister-Killian syndrome: a study of 22 British patients.
J Med Genet
; 52(7): 454-64, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25888713
3.
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
BMC Med Genet
; 14: 42, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23557002
4.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23345203
5.
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
Am J Hum Genet
; 82(4): 927-36, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18371933
6.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18784092
7.
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).
Hum Genet
; 125(2): 181-8, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19104840
8.
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Eur J Hum Genet
; 16(1): 18-27, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17940555
9.
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.
Eur J Hum Genet
; 14(6): 739-43, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16552425
10.
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
Eur J Hum Genet
; 13(6): 716-20, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15785777
11.
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
Eur J Hum Genet
; 13(10): 1131-6, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16077733
12.
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
Am J Med Genet A
; 149A(4): 793-7, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19248177
13.
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Eur J Hum Genet
; 21(2): 182-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22828807
14.
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
Mol Cytogenet
; 3: 3, 2010 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-20167067
15.
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
Eur J Hum Genet
; 17(1): 37-43, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18716609
16.
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
Eur J Med Genet
; 51(6): 672-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18848651
17.
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.
Am J Med Genet A
; 128A(2): 179-84, 2004 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15214013
18.
Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion.
Clin Dysmorphol
; 18(4): 222-4, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19641456
19.
Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.
Am J Med Genet A
; 143A(6): 615-8, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318843