scholarly journals Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

2017 ◽  
Vol 41 (5) ◽  
pp. 271-278 ◽  
Author(s):  
Alberto Galvez-Ruiz ◽  
Anthony J. Lehner ◽  
Alicia Galindo-Ferreiro ◽  
Patrik Schatz
Keyword(s):  
Gene Mutations ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

scholarly journals A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

2019 ◽  
Vol 16 ◽  
pp. 100563
Author(s):  
Rahul Rachwani Anil ◽  
Carlos Rocha-de-Lossada ◽  
Carlos Hernando Ayala ◽  
Manuela España Contreras
Keyword(s):  
Syndrome Patient ◽  
New Mutation ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome

2021 ◽  
pp. 1-4
Author(s):  
Christine L. Benador-Shen ◽  
Elias Reichel ◽  
Dallas Reed ◽  
Lawrence S. Milner ◽  
Nancy Pinnell ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

Minor dysmorphic features in a patient with papillorenal syndrome – A Case Report

2020 ◽  
pp. 1-7
Author(s):  
Ferit Kulali ◽  
Ahmet Yagmur Bas ◽  
Fatma Iyigun Guzel ◽  
Husniye Yucel ◽  
Caner Kara ◽  
...  
Keyword(s):  
Critical Role ◽  
Multicystic Dysplastic Kidney ◽  
Renal Abnormality ◽  
Related Disorder ◽  
Dysmorphic Features ◽  
First Case ◽  
Dysplastic Kidney ◽  
Renal Coloboma Syndrome ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

Abstract Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormality. The syndrome causes mutations in the PAX2 gene, which plays a critical role in embryogenesis. Other related anomalies are less commonly observed. To our knowledge, ours is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features. Keywords: Renal coloboma syndrome; PAX2-related disorder; coloboma of optic nerve, multicystic dysplastic kidney; eye abnormalities Continuous...

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome

2005 ◽  
Vol 139 (4) ◽  
pp. 733-735 ◽  
Author(s):  
Keiko Yoshimura ◽  
Shigeo Yoshida ◽  
Yoko Yamaji ◽  
Aiko Komori ◽  
Ayako Yoshida ◽  
...  
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Papillorenal Syndrome ◽  
Pax2 Gene

scholarly journals Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.

1998 ◽  
Vol 35 (4) ◽  
pp. 338-339 ◽  
Author(s):  
K L Choi ◽  
L A McNoe ◽  
M C French ◽  
P J Guilford ◽  
M R Eccles
Keyword(s):  
Vesicoureteric Reflux ◽  
Gene Mutations ◽  
Pax2 Gene

WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A110-A110
Author(s):  
McTaggart Sj ◽  
Algar E ◽  
Chow Cw ◽  
Powell Hr ◽  
Jones CL.
Keyword(s):  
Gene Mutations ◽  
Wt1 Gene ◽  
Frasier Syndrome

1068: TP53 Gene Mutations as a Prognostic Marker for PSA Progression in Early Stage Prostate Cancer

2004 ◽  
Vol 171 (4S) ◽  
pp. 282-282
Author(s):  
Markus D. Sachs ◽  
Horst Schlechte ◽  
Katrin Schiemenz ◽  
Severin V. Lenk ◽  
Dietmar Schnorr ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prognostic Marker ◽  
Early Stage ◽  
Gene Mutations ◽  
Tp53 Gene ◽  
Psa Progression ◽  
Tp53 Gene Mutations
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