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1.
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Hum Genet
; 139(4): 531-543, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32030560
2.
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.
Exp Eye Res
; 168: 161-170, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305299
3.
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Cytogenet Genome Res
; 144(3): 190-5, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25531548
4.
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.
Hum Genet
; 132(11): 1287-99, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23835950
5.
Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.
Gene
; 887: 147737, 2023 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37625567
6.
Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Front Genet
; 13: 868306, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35281799
7.
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Biomedicines
; 11(1)2022 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672520
8.
SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Front Genet
; 12: 757170, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34925449
9.
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Eur J Med Genet
; 63(10): 104027, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32758661
10.
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Congenit Anom (Kyoto)
; 59(5): 174-178, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30225942
11.
Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
Front Genet
; 13: 1022918, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36160024
12.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet
; 49(1): 36-45, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27841880
13.
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients.
Haematologica
; 91(6): 840-3, 2006 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-16769589
14.
Complex X chromosome rearrangement associated with multiorgan autoimmunity.
Mol Cytogenet
; 8: 51, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26191082
15.
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.
JIMD Rep
; 23: 55-65, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25814383
16.
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.
Eur J Hum Genet
; 17(8): 1024-33, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19223936
17.
Genetic defects in Portuguese families with inherited protein C deficiency.
Thromb Res
; 128(3): 299-302, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21621249
18.
Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor.
Genes Chromosomes Cancer
; 36(1): 1-6, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12461744
19.
Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
Am J Hematol
; 76(2): 163-71, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15164384
20.
Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly.
Genomics
; 81(5): 489-503, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12706107
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