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Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome
Cytogenetic and Genome Research
◽
10.1159/000059343
◽
2001
◽
Vol 95
(3-4)
◽
pp. 183-188
◽
Cited By ~ 42
Author(s):
Q. Wang
◽
A.A. Timur
◽
P. Szafranski
◽
A. Sadgephour
◽
V. Jurecic
◽
...
Keyword(s):
Molecular Characterization
◽
De Novo
◽
Overgrowth Syndrome
◽
De Novo Translocation
Download Full-text
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References
Clinical and molecular characterization of de novo loss of function variants inHNRNPU
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.38388
◽
2017
◽
Vol 173
(10)
◽
pp. 2680-2689
◽
Cited By ~ 14
Author(s):
Magalie S. Leduc
◽
Hsiao-Tuan Chao
◽
Chunjing Qu
◽
Magdalena Walkiewicz
◽
Rui Xiao
◽
...
Keyword(s):
Molecular Characterization
◽
De Novo
◽
Loss Of Function
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Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
Clinical Dysmorphology
◽
10.1097/mcd.0b013e3281e668eb
◽
2007
◽
Vol 16
(4)
◽
pp. 253-256
◽
Cited By ~ 1
Author(s):
Shashirekha Shetty
◽
Kym M. Boycott
◽
Tanya L. Gillan
◽
Kathy Bowser
◽
Jillian S. Parboosingh
◽
...
Keyword(s):
Molecular Characterization
◽
De Novo
◽
Balanced Translocation
Download Full-text
Molecular Characterization of Younger Indian Patients with De Novo Myelodysplastic Syndromes: AIIMS Experience
Leukemia Research
◽
10.1016/s0145-2126(17)30352-1
◽
2017
◽
Vol 55
◽
pp. S138
Author(s):
R. Chaubey
◽
S. Sazawal
◽
M. Mahapatra
◽
S. Chhikara
◽
R. Saxena
Keyword(s):
Molecular Characterization
◽
Myelodysplastic Syndromes
◽
De Novo
◽
Indian Patients
Download Full-text
Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature
Molecular Cytogenetics
◽
10.1186/s13039-016-0285-1
◽
2016
◽
Vol 9
(1)
◽
Cited By ~ 1
Author(s):
Elisa Tassano
◽
Mariasavina Severino
◽
Silvia Rosina
◽
Riccardo Papa
◽
Domenico Tortora
◽
...
Keyword(s):
Molecular Characterization
◽
De Novo
◽
Review Of The Literature
Download Full-text
Molecular characterization of complex chromosomal rearrangement: First report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case
Pathology - Research and Practice
◽
10.1016/j.prp.2014.08.015
◽
2014
◽
Vol 210
(12)
◽
pp. 1090-1094
◽
Cited By ~ 1
Author(s):
Firoz Ahmad
◽
Rupa Dalvi
◽
Swarna Mandava
◽
Bibhu R. Das
Keyword(s):
Molecular Characterization
◽
Chromosomal Rearrangement
◽
De Novo
◽
Complex Karyotype
◽
First Report
◽
Complex Chromosomal Rearrangement
◽
De Novo Aml
Download Full-text
Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
American Journal of Medical Genetics
◽
10.1002/(sici)1096-8628(19981116)80:3<273::aid-ajmg19>3.0.co;2-6
◽
1998
◽
Vol 80
(3)
◽
pp. 273-280
◽
Cited By ~ 20
Author(s):
Bruno Delobel
◽
Val�rie Delannoy
◽
Giorgio Pini
◽
Michele Zapella
◽
Marc Tardieu
◽
...
Keyword(s):
Molecular Characterization
◽
Rett Syndrome
◽
De Novo
Download Full-text
Clinical, Cytogenetic, and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication
Genetic Testing and Molecular Biomarkers
◽
10.1089/gtmb.2009.0067
◽
2010
◽
Vol 14
(1)
◽
pp. 57-65
◽
Cited By ~ 4
Author(s):
Alicia Vaglio
◽
Aubrey Milunsky
◽
Andrea Quadrelli
◽
Xin-Li Huang
◽
Thomas Maher
◽
...
Keyword(s):
Down Syndrome
◽
Molecular Characterization
◽
Clinical Features
◽
De Novo
◽
Partial Trisomy
◽
Intrachromosomal Duplication
Download Full-text
Biophysical and Molecular Characterization of a Novel De Novo KCNJ2 Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry
Circulation Cardiovascular Genetics
◽
10.1161/circgenetics.110.957696
◽
2011
◽
Vol 4
(1)
◽
pp. 51-57
◽
Cited By ~ 21
Author(s):
Hector Barajas-Martinez
◽
Dan Hu
◽
Gustavo Ontiveros
◽
Gabriel Caceres
◽
Mayurika Desai
◽
...
Keyword(s):
Ventricular Tachycardia
◽
Molecular Characterization
◽
De Novo
◽
Catecholaminergic Polymorphic Ventricular Tachycardia
◽
Polymorphic Ventricular Tachycardia
Download Full-text
Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study
Clinical Genetics
◽
10.1111/cge.12138
◽
2013
◽
Vol 85
(3)
◽
pp. 233-244
◽
Cited By ~ 13
Author(s):
N. Marle
◽
D. Martinet
◽
A. Aboura
◽
G. Joly‐Helas
◽
J. Andrieux
◽
...
Keyword(s):
Prospective Study
◽
Molecular Characterization
◽
Genetic Counselling
◽
De Novo
◽
A Prospective Study
Download Full-text
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.33433
◽
2010
◽
Vol 152A
(7)
◽
pp. 1781-1788
◽
Cited By ~ 10
Author(s):
Anne-Claude Tabet
◽
Azzedine Aboura
◽
Marion Gérard
◽
Marion Pilorge
◽
Céline Dupont
◽
...
Keyword(s):
Molecular Characterization
◽
De Novo
Download Full-text
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