Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association
about
The genetic landscape and clinical implications of vertebral anomalies in VACTERL associationPCSK5 mutation in a patient with the VACTERL association.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Prenatal exposure to environmental factors and congenital limb defects.Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 09 January 2014
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Mutation screening and array c ...... e array in VACTERL association
@en
Mutation screening and array c ...... array in VACTERL association.
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type
label
Mutation screening and array c ...... e array in VACTERL association
@en
Mutation screening and array c ...... array in VACTERL association.
@nl
prefLabel
Mutation screening and array c ...... e array in VACTERL association
@en
Mutation screening and array c ...... array in VACTERL association.
@nl
P2093
P2860
P50
P1433
P1476
Mutation screening and array c ...... e array in VACTERL association
@en
P2093
Edvard Nordenskjöld
Erik Iwarsson
Frideborg Bradley
Göran Annerén
Johanna Winberg
Nikos Papadogiannakis
Peter Gustavsson
Pär-Johan Svensson
P2860
P304
P356
10.1371/JOURNAL.PONE.0085313
P407
P577
2014-01-09T00:00:00Z