Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1993 ◽  
Vol 2 (8) ◽  
pp. 1263-1266 ◽  
Author(s):  
Hélène Hofmann-Radvanyi ◽  
Christian Lavedan ◽  
Jean-Pierre Rabès ◽  
Daniel Savoy ◽  
Chantal Duros ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Normal Allele ◽  
Low Expression

Genetic anemia in three siblings associated with a nonsense codon of STEAP3 and low expression of the normal allele

2010 ◽  
Vol 17 (3) ◽  
pp. 201-202
Author(s):  
B. Grandchamp ◽  
C. Balser ◽  
C. Kannengiesser ◽  
G. Hetet ◽  
C. Oudin ◽  
...  
Keyword(s):  
Normal Allele ◽  
Nonsense Codon ◽  
Low Expression

Low expression of p27 and low proliferation index do not correlate in hairy cell leukaemia

2000 ◽  
Vol 111 (1) ◽  
pp. 263-271 ◽  
Author(s):  
Marco Chilosi ◽  
Roberto Chiarle ◽  
Maurizio Lestani ◽  
Fabio Menestrina ◽  
Licia Montagna ◽  
...  
Keyword(s):  
Hairy Cell Leukaemia ◽  
Proliferation Index ◽  
Cell Leukaemia ◽  
Hairy Cell ◽  
Low Expression

Myotonic dystrophy: a rare cause of primary hypogonadism

2013 ◽  
pp. 1-1
Author(s):  
Alison Thorne ◽  
C M Iqbal ◽  
Deepa Beeharry ◽  
Tom Mayes ◽  
Shankar Upendram Srinivas
Keyword(s):  
Myotonic Dystrophy

A higher frequency of papillary thyroid carcinoma in myotonic dystrophy

2017 ◽  
Author(s):  
Hamou Adrien Ben ◽  
Claire Marie Dhaenens ◽  
Stephanie Espiard ◽  
Kanza Benomar ◽  
Vincent Tiffreau ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Myotonic Dystrophy ◽  
Papillary Thyroid

Calcifying Epithelioma Accompanying Myotonic Dystrophy.

1998 ◽  
Vol 60 (3) ◽  
pp. 328-331 ◽  
Author(s):  
Tomoki OKUDA ◽  
Shinji OYAKE ◽  
Tsunao OH-I ◽  
Michiyuki KOGA
Keyword(s):  
Myotonic Dystrophy

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy
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