Detalles de la búsqueda
1.
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.
Cytogenet Genome Res
; 160(4): 185-192, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32316019
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29194955
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26097203
4.
Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes.
Am J Med Genet A
; 176(9): 2034-2036, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30055074
5.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23345203
6.
Transmitted deletions of medial 5p and learning difficulties; does the cadherin cluster only become penetrant when flanking genes are deleted?
Am J Med Genet A
; 155A(11): 2807-15, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21965044
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21204216
8.
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.
Am J Med Genet A
; 152A(7): 1764-9, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20583179
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19133692
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-17940555
11.
Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
Eur J Hum Genet
; 15(1): 45-52, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-16985501
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-16552425
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-16077733
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-15657610
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19248177
16.
Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?
Am J Med Genet A
; 146A(14): 1899-901, 2008 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18553547
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22828807
18.
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?
Eur J Hum Genet
; 25(1): 8-9, 2016 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27485411
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-18716609
20.
Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.
Genome Res
; 18(11): 1686-97, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18974263