Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

2000 ◽  
Vol 20 (10) ◽  
pp. 835-837 ◽  
Author(s):  
Pierangela De Biasio ◽  
Federico Prefumo ◽  
Maria Baffico ◽  
Maurizia Baldi ◽  
Manuela Priolo ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Type I ◽  
Thanatophoric Dysplasia

scholarly journals P33.09: 3D ultrasound, MRI and molecular diagnosis of thanatophoric dysplasia type I

2007 ◽  
Vol 30 (4) ◽  
pp. 580-580
Author(s):  
K. M. J. Min Jenog ◽  
K. D. Kim Dm ◽  
K. S. J. Kim Sa Jin
Keyword(s):  
Molecular Diagnosis ◽  
3D Ultrasound ◽  
Type I ◽  
Thanatophoric Dysplasia

Second trimester molecular diagnosis of a stop codonFGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings

2002 ◽  
Vol 22 (8) ◽  
pp. 736-737 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Ju Lin ◽  
Wayseen Wang ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Type I ◽  
Second Trimester ◽  
Thanatophoric Dysplasia ◽  
Ultrasound Findings

Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis

2000 ◽  
Vol 20 (9) ◽  
pp. 761-764 ◽  
Author(s):  
C. Busquets ◽  
M. J. Coll ◽  
B. Merinero ◽  
M. Ugarte ◽  
M. A. Ruiz ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Mutation Analysis ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Direct Mutation

Analysis of cDNA Molecules is Not Suitable for the Molecular Diagnosis of Mucopolysaccharidosis Type I

2012 ◽  
Vol 21 (1) ◽  
pp. 53-55 ◽  
Author(s):  
Andresa Cardoso Grandini Almeida ◽  
Gabriela Pasqualim ◽  
Fabiana Q. Mayer ◽  
Ida Vanessa Doderlein Schwartz ◽  
Carolina F. Souza ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

2005 ◽  
Vol 25 (5) ◽  
pp. 426-428 ◽  
Author(s):  
Pierangela De Biasio ◽  
Irina Bruzzone Ichim ◽  
Eloisa Scarso ◽  
Maurizia Baldi ◽  
Anwar Barban ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Increased Nuchal Translucency

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

2001 ◽  
Vol 104 (4) ◽  
pp. 277-281 ◽  
Author(s):  
Gianni Camera ◽  
Maurizia Baldi ◽  
Giuseppe Strisciuglio ◽  
Daniela Concolino ◽  
Pierpaolo Mastroiacovo ◽  
...  
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia
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