scholarly journals Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

2020 ◽  
Vol 6 (1) ◽  
pp. a005116
Author(s):  
Seth A. Brodie ◽  
Jean Paul Rodriguez-Aulet ◽  
Neelam Giri ◽  
Jieqiong Dai ◽  
Mia Steinberg ◽  
...  
Keyword(s):  
Functional Polymorphism ◽  
Absent Radius ◽  
1Q21.1 Deletion

scholarly journals 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

2019 ◽  
Vol 5 (6) ◽  
pp. a004564
Author(s):  
Seth A. Brodie ◽  
Jean Paul Rodriguez-Aulet ◽  
Neelam Giri ◽  
Jieqiong Dai ◽  
Mia Steinberg ◽  
...  
Keyword(s):  
Functional Polymorphism ◽  
Absent Radius ◽  
1Q21.1 Deletion

Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

2011 ◽  
Vol 54 (5) ◽  
pp. e471-e477 ◽  
Author(s):  
Ali Houeijeh ◽  
Joris Andrieux ◽  
Pascale Saugier-Veber ◽  
Albert David ◽  
Alice Goldenberg ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Clinical Genetic ◽  
Tar Syndrome ◽  
Absent Radius ◽  
1Q21.1 Deletion

Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes

2012 ◽  
Vol 55 (2) ◽  
pp. 120-123 ◽  
Author(s):  
Maria Corsignano Guastadisegni ◽  
Roberta Roberto ◽  
Alberto L’Abbate ◽  
Orazio Palumbo ◽  
Massimo Carella ◽  
...  
Keyword(s):  
Healthy Mother ◽  
Absent Radius ◽  
The One ◽  
1Q21.1 Deletion

On the assembly and structural modulation of lens fiber junctions

1984 ◽  
Vol 42 ◽  
pp. 110-113
Author(s):  
E.L. Benedetti ◽  
I. Dunia ◽  
Do Ngoc Lien ◽  
O. Vallon ◽  
D. Louvard ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Natural History ◽  
Intercellular Junctions ◽  
Eye Lens ◽  
Membrane Domains ◽  
Functional Polymorphism ◽  
Lens Fiber ◽  
The Past ◽  
Structural Modulation ◽  
Biochemical Difference

In the eye lens emerging molecular and structural patterns apparently cohabit with the remnants of the past. The lens in a rather puzzling fashion sums up its own natural history and even transient steps of the differentiation are memorized. A prototype of this situation is well outlined by the study of the lenticular intercellular junctions. These membrane domains exhibit structural, biochemical and perhaps functional polymorphism reflecting throughout life the multiple steps of the differentiation of the epithelium into fibers and of the ageing process of the lenticular cells.The most striking biochemical difference between the membrane derived from the epithelium and from the fibers respectively, concerns the presence of the 26,000 molecular weight polypeptide (MP26) in the latter membranes.

A Functional Polymorphism of the Stromelysin Gene (MMP3) May Influence Disease Progression in HCV Infection

Endoscopy ◽  
2004 ◽  
Vol 36 (05) ◽  
Author(s):  
CP O'Brien ◽  
M O'Brien ◽  
M Curry ◽  
C O'Farrelly ◽  
J Hegarty ◽  
...  
Keyword(s):  
Disease Progression ◽  
Hcv Infection ◽  
Functional Polymorphism

Mitral Valve Repair in a Patient with Thrombocytopenia-Absent Radius Syndrome: Case Report

2010 ◽  
Vol 13 (5) ◽  
pp. E336-E338
Author(s):  
Onur Gurer ◽  
Ahmet Kirbas ◽  
Murat Ugurlucan ◽  
Omer Isik
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Valve Repair ◽  
Valve Repair ◽  
Absent Radius
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