Detalhe da pesquisa
1.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol
; 47(12): 2342-2345, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178237
2.
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.
Cytogenet Genome Res
; 160(4): 185-192, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32316019
3.
Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Genet Med
; 21(4): 877-886, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181606
4.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095202
5.
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
6.
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
Am J Med Genet A
; 170A(4): 1017-22, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773965
7.
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.
Am J Med Genet A
; 167A(12): 3153-60, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333682
8.
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Am J Med Genet A
; 167A(9): 2052-64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097203
9.
Response to Prakash et al.
Genet Med
; 21(8): 1884-1885, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573795
10.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genet Med
; 13(9): 777-84, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21844811
11.
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
Am J Med Genet A
; 155A(1): 106-12, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204216
12.
Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.
NPJ Genom Med
; 5: 28, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32714564
13.
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Am J Med Genet A
; 149A(2): 147-54, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19133692
14.
Inherited 2q23.1 microdeletions involving the MBD5 locus.
Mol Genet Genomic Med
; 5(5): 608-613, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944244
15.
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.
Eur J Hum Genet
; 13(3): 283-91, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15657610
16.
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
17.
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.
Am J Med Genet A
; 126A(1): 27-32, 2004 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15039970
18.
Functional disomy resulting from duplications of distal Xq in four unrelated patients.
Hum Genet
; 115(5): 399-408, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15338277