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1.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31913574
2.
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenet Genome Res
; 156(2): 65-70, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30286452
3.
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Am J Med Genet A
; 167A(8): 1921-6, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25866352
4.
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Am J Med Genet A
; 161A(1): 179-84, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23225375
5.
Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.
Prenat Diagn
; 32(12): 1166-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23015528
6.
Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.
Fetal Diagn Ther
; 31(3): 196-200, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22415219
7.
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Mol Cytogenet
; 10: 24, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649281
8.
Application of multicolor banding for identification of complex chromosome 18 rearrangements.
J Mol Diagn
; 8(4): 521-5; quiz 528, 2006 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16931594
9.
A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21.
Cancer Genet Cytogenet
; 156(1): 62-7, 2005 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15588858
10.
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
J Neurodev Disord
; 7(1): 26, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26257835
11.
Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.
J Assoc Genet Technol
; 40(1): 16-21, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-26030165
12.
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Genet Res Int
; 2011: 185271, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22567345
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