Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

2011 ◽  
Vol 158A (1) ◽  
pp. 155-158 ◽  
Author(s):  
Amelia R. Mroch ◽  
Mark Laudenschlager ◽  
Jason D. Flanagan
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion ◽  
Fumarase Deficiency

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

2008 ◽  
Vol 28 (4) ◽  
pp. 317-320 ◽  
Author(s):  
Albert de La Chapelle ◽  
Eeva-Marja Sankila ◽  
Mikael Lindlöf ◽  
Pertti Aula ◽  
Reuo Norio
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion ◽  
Carrier Detection ◽  
Norrie Disease

Application of Endonuclease Mapping to the Analysis and Prenatal Diagnosis of Thalassemias Caused by Globin-Gene Deletion

1978 ◽  
Vol 299 (4) ◽  
pp. 166-172 ◽  
Author(s):  
Stuart H. Orkin ◽  
Blanche P. Alter ◽  
Cigdem Altay ◽  
Maurice J. Mahoney ◽  
Herbert Lazarus ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion ◽  
Globin Gene ◽  
Endonuclease Mapping

Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray

2016 ◽  
Vol 59 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Ida Charlotte Bay Lund ◽  
Else Marie Vestergaard ◽  
Rikke Christensen ◽  
Niels Uldbjerg ◽  
Naja Becher
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion ◽  
Chromosomal Microarray ◽  
Nager Syndrome

Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis

The Lancet ◽  
1995 ◽  
Vol 345 (8956) ◽  
pp. 1049 ◽  
Author(s):  
NandaR. Rodrigues ◽  
Louise Campbell ◽  
Nicholas Owen ◽  
CharlesH. Rodeck ◽  
KayE. Davies
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Gene Deletion ◽  
Muscular Atrophy ◽  
Deletion Analysis

Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

1998 ◽  
Vol 63 (4) ◽  
pp. 254-262 ◽  
Author(s):  
Eleanor M. Coughlin ◽  
Ernst Christensen ◽  
Pamela L. Kunz ◽  
K.S. Krishnamoorthy ◽  
Valerie Walker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Fumarase Deficiency

Δ F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families

1990 ◽  
Vol 10 (6) ◽  
pp. 413-414 ◽  
Author(s):  
G. Novelli ◽  
P. Sangiuolo ◽  
B. Dallapiccola ◽  
P. Gasparini ◽  
A. Savoia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Gene Deletion

scholarly journals Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion

2018 ◽  
Vol 57 (3) ◽  
pp. 435-441 ◽  
Author(s):  
Ha Ly Thi Thanh ◽  
Huong Le Thi Thanh ◽  
Long Hoang Luong ◽  
Thinh Huy Tran ◽  
Su-Ching Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy
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