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Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients
BMC Medical Genomics
◽
10.1186/1755-8794-7-24
◽
2014
◽
Vol 7
(1)
◽
Cited By ~ 5
Author(s):
Lixian Chang
◽
Weiping Yuan
◽
Huimin Zeng
◽
Quanquan Zhou
◽
Wei Wei
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Whole Exome
Download Full-text
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References
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia
Gene
◽
10.1016/j.gene.2013.08.031
◽
2013
◽
Vol 530
(2)
◽
pp. 295-300
◽
Cited By ~ 13
Author(s):
Zhaojing Zheng
◽
Juan Geng
◽
Ru-en Yao
◽
Caihua Li
◽
Daming Ying
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Molecular Defects
◽
Whole Exome
Download Full-text
Whole exome sequencing in non-obstructive azoospermia allows the identification of a high-risk subgroup of infertile men for undiagnosed Fanconi Anemia, a cancer-prone disease
Endocrine Abstracts
◽
10.1530/endoabs.56.oc2.3
◽
2018
◽
Author(s):
Csilla Krausz
◽
Antoni Riera-Escamilla
◽
Chiara Chianese
◽
Daniel Moreno-Mendoza
◽
Osvaldo Rajmil
◽
...
Keyword(s):
High Risk
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Obstructive Azoospermia
◽
Infertile Men
◽
Whole Exome
Download Full-text
Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges
PLoS ONE
◽
10.1371/journal.pone.0052648
◽
2012
◽
Vol 7
(12)
◽
pp. e52648
◽
Cited By ~ 27
Author(s):
Kerstin Knies
◽
Beatrice Schuster
◽
Najim Ameziane
◽
Martin Rooimans
◽
Thomas Bettecken
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Whole Exome
Download Full-text
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes
BMC Cancer
◽
10.1186/s12885-015-1549-6
◽
2015
◽
Vol 15
(1)
◽
Cited By ~ 18
Author(s):
Jean-François Spinella
◽
Jasmine Healy
◽
Virginie Saillour
◽
Chantal Richer
◽
Pauline Cassart
◽
...
Keyword(s):
Acute Lymphoblastic Leukemia
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Rare Case
◽
Lymphoblastic Leukemia
◽
Childhood Acute Lymphoblastic Leukemia
◽
Whole Exome
Download Full-text
PB1862 WHOLE EXOME SEQUENCING REVEALS XRCC2 MUTATION CAUSING FANCONI ANEMIA
HemaSphere
◽
10.1097/01.hs9.0000565952.90249.23
◽
2019
◽
Vol 3
(S1)
◽
pp. 849
Author(s):
A. Alhashem
◽
B. Alabbasi
◽
H. Alfaridi
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Whole Exome
Download Full-text
Whole exome sequencing identifies functional classes of gene mutations associated with bone marrow failure in pediatric Fanconi Anemia patients
European Journal Of Haematology
◽
10.1111/ejh.13645
◽
2021
◽
Author(s):
Shiyu Wang
◽
Natalia H. Zbib
◽
Alyza Skaist
◽
Jiang Gui
◽
Rafael Madero‐Marroquin
◽
...
Keyword(s):
Bone Marrow
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Bone Marrow Failure
◽
Gene Mutations
◽
Whole Exome
◽
Functional Classes
Download Full-text
Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP
Human Mutation
◽
10.1002/humu.22221
◽
2012
◽
Vol 34
(1)
◽
pp. 93-96
◽
Cited By ~ 18
Author(s):
Beatrice Schuster
◽
Kerstin Knies
◽
Chantal Stoepker
◽
Eunike Velleuer
◽
Richard Friedl
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Fanconi Anemia
◽
Whole Exome
Download Full-text
Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)
The Thoracic and Cardiovascular Surgeon
◽
10.1055/s-0034-1393993
◽
2014
◽
Vol 62
(S 02)
◽
Author(s):
M. Hitz
◽
S. Al-Turki
◽
A. Schalinski
◽
U. Bauer
◽
T. Pickardt
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Whole Exome
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FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder
10.1055/s-0038-1675915
◽
2018
◽
Author(s):
Yasemin Dincer
◽
Michael Zech
◽
Matias Wagner
◽
Nikolai Jung
◽
Volker Mall
◽
...
Keyword(s):
Movement Disorder
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Whole Exome
◽
Dyskinetic Movement
Download Full-text
Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
Endocrine Abstracts
◽
10.1530/endoabs.39.oc5.2
◽
2015
◽
Author(s):
Lucy Shapiro
◽
Martin Savage
◽
Lou Metherell
◽
Helen Storr
Keyword(s):
Short Stature
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Single Gene
◽
Genetic Characterisation
◽
Whole Exome
Download Full-text
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