Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

2017 ◽  
Vol 11 (5-6) ◽  
pp. 293-297 ◽  
Author(s):  
Matthieu Peycelon ◽  
Lamisse Mansour-Hendili ◽  
Capucine Hyon ◽  
Nathalie Collot ◽  
Muriel Houang ◽  
...  
Keyword(s):  
Proximal Hypospadias ◽  
Intragenic Duplication

scholarly journals Laparoscopic excision of symptomatic prostatic utricle following proximal hypospadias repair

2021 ◽  
pp. 101982
Author(s):  
Hoa Viet Nguyen ◽  
Tuan Hong Vu ◽  
Quan Quy Hong ◽  
Hung Quang Pham ◽  
Chung Ta Vo ◽  
...  
Keyword(s):  
Hypospadias Repair ◽  
Proximal Hypospadias ◽  
Prostatic Utricle ◽  
Laparoscopic Excision

S129 Treatment of proximal hypospadias using extended snodgrass technique with dorsal dartos flap wraping

2009 ◽  
Vol 8 (8) ◽  
pp. 649-650
Author(s):  
M. Majstorovic ◽  
M. Bizic ◽  
V. Kojovic ◽  
B. Stojanovic ◽  
Z. Krstic ◽  
...  
Keyword(s):  
Proximal Hypospadias ◽  
Dartos Flap

scholarly journals Single Stages Repair of Hypospadias Using The Snodgrass Technique: A Modern Choice

2018 ◽  
Vol 14 (2) ◽  
pp. 50-52
Author(s):  
Binod Karn ◽  
N. M. Shrestha
Keyword(s):  
Observational Study ◽  
Plastic Surgery ◽  
Teaching Hospital ◽  
The Other ◽  
Fistula Formation ◽  
Meatal Stenosis ◽  
Proximal Hypospadias ◽  
Medical College ◽  
Cosmetic Appearance

 Background: Proximal hypospadias with chordee is the most challenging variant of hypospadias to reconstruct. During the last 10 years, the approach to severe hypospadias has been controversial.Materials & Methods: This is a hospital based observational study conducted in the plastic surgery unit of department of surgery at Nepalgunj Medical College and Teaching Hospital Kohalpur from 2012 March to 2016 September. All patients underwent single staged procedures using Snodgrass technique.Results: Thirty three patients were operated. Twenty four patients had no complications. Single fistula was present in 6(18.18%) patients. Two (6.06%) patients had 2 fistulae; one at the original site of the hypospadias and the other was sub-coronal. One (3.03%) patient had moderate meatal stenosis, which was successfully treated by repeated dilatations.Conclusion: Single Staged procedure using the principles of Snodgrass's technique; is a versatile operation that can be used for the proximal hypospadias. It decreases the rate of fistula formation; disruption; stenosis and gives a satisfactory cosmetic appearance. JNGMC,  Vol. 14 No. 2 December 2016, Page: 50-52

scholarly journals Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Jun Miyazaki ◽  
Mayuko Ito ◽  
Haruki Nishizawa ◽  
Takema Kato ◽  
Yukito Minami ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Intragenic Duplication

scholarly journals The genomic structure of the highly-conserved dmrt1 gene in Solea senegalensis (Kaup, 1868) shows an unexpected intragenic duplication

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241518 ◽  
Author(s):  
Ismael Cross ◽  
Emilio García ◽  
María E. Rodríguez ◽  
Alberto Arias-Pérez ◽  
Silvia Portela-Bens ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Solea Senegalensis ◽  
Dmrt1 Gene ◽  
Intragenic Duplication

Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

2014 ◽  
Vol 164 (12) ◽  
pp. 3083-3087 ◽  
Author(s):  
Agne Liedén ◽  
Malin Kvarnung ◽  
Daniel Nilssson ◽  
Ellika Sahlin ◽  
Elisabeth Syk Lundberg
Keyword(s):  
Causative Mechanism ◽  
Intragenic Duplication
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