Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies

2010 ◽  
Vol 152A (12) ◽  
pp. 3148-3153 ◽  
Author(s):  
Hussam Al-Kateb ◽  
Amanda Hahn ◽  
Julie M. Gastier-Foster ◽  
Linda Jeng ◽  
Shawn E. McCandless ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Congenital Anomalies ◽  
De Novo ◽  
Interstitial Deletion ◽  
Multiple Congenital Anomalies ◽  
Cutis Aplasia

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

1995 ◽  
Vol 55 (1) ◽  
pp. 30-32 ◽  
Author(s):  
Michael L. Levin ◽  
Lisa G. Shaffer ◽  
Richard A. Lewis ◽  
Mary V. Gresik ◽  
James R. Lupski
Keyword(s):  
Congenital Anomalies ◽  
De Novo ◽  
Interstitial Deletion ◽  
Chromosome 17 ◽  
Multiple Congenital Anomalies

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Clinical and molecular characterization of de novo loss of function variants inHNRNPU

2017 ◽  
Vol 173 (10) ◽  
pp. 2680-2689 ◽  
Author(s):  
Magalie S. Leduc ◽  
Hsiao-Tuan Chao ◽  
Chunjing Qu ◽  
Magdalena Walkiewicz ◽  
Rui Xiao ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Loss Of Function

scholarly journals An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

1977 ◽  
Vol 14 (6) ◽  
pp. 455-459 ◽  
Author(s):  
L Wisniewski ◽  
G Purdy ◽  
T Hassold ◽  
C Wilson ◽  
K Bentley ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 9 ◽  
Multiple Congenital Anomalies

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

2007 ◽  
Vol 16 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Shashirekha Shetty ◽  
Kym M. Boycott ◽  
Tanya L. Gillan ◽  
Kathy Bowser ◽  
Jillian S. Parboosingh ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Balanced Translocation

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

2005 ◽  
Vol 140A (1) ◽  
pp. 88-91 ◽  
Author(s):  
Toshiyuki Yamamoto ◽  
Hideaki Ueda ◽  
Motoyoshi Kawataki ◽  
Michiko Yamanaka ◽  
Toshihide Asou ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Chromosome Region ◽  
Interstitial Deletion ◽  
Multiple Congenital Anomalies

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 82-88 ◽  
Author(s):  
Maggie S. Brett ◽  
Ivy S.L. Ng ◽  
Eileen C.P. Lim ◽  
Min Hwee Yong ◽  
Zhihui Li ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Growth Retardation ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies
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