Genetic counseling and molecular analysis of muscular dystrophy families in Israel

1997 ◽  
Vol 7 (6-7) ◽  
pp. 434
Author(s):  
Cyril Legum ◽  
Avi Orr-Urtreger ◽  
Adi Ben Yehuda ◽  
Chedva Perek ◽  
Sigal Tsabari ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Muscular Dystrophy ◽  
Molecular Analysis

Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)

2003 ◽  
pp. 305-316
Author(s):  
Silvère M. van der Maarel ◽  
Egbert Bakker ◽  
Rune R. Frants
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Analysis ◽  
Facioscapulohumeral Muscular Dystrophy

Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy.

1977 ◽  
Vol 23 (12) ◽  
pp. 2341-2343 ◽  
Author(s):  
H L Verrill ◽  
N A Pickard ◽  
H D Gruemer
Keyword(s):  
Creatine Kinase ◽  
Genetic Counseling ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Laboratory ◽  
Carrier State ◽  
Childbearing Age ◽  
Plasma Creatine Kinase

Abstract Currently, the most useful clinical laboratory aid in establishing the carrier state of Duchenne muscular dystrophy is to determine creatine kinase (EC 2.7.3.2) activity in the plasma. The considerable overlap between plasma creatine kinase activities of controls and of carriers at the childbearing age contributes appreciable difficulty to genetic counseling of potential carriers. The consistent failure of lymphocyte cap formation in Duchenne muscular dystrophy patients and carriers in this study suggests a valuable tool for the confirmation of the carrier state.

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy

1995 ◽  
Vol 18 (S13) ◽  
pp. S103-S109 ◽  
Author(s):  
Peter W. Lunt ◽  
Philip E. Jardine ◽  
Manuela Koch ◽  
Julia Maynard ◽  
Micheal Osborn ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Genotypic Correlation

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population

2011 ◽  
Vol 21 (4) ◽  
pp. 557-563 ◽  
Author(s):  
Miri Yanoov-Sharav ◽  
Esther Leshinsky-Silver ◽  
Sarit Cohen ◽  
Chana Vinkler ◽  
Marina Michelson ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Counseling And Testing ◽  
Israeli Population
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