Detalhe da pesquisa
1.
Kidney function and transplants in prune belly syndrome: a scoping review.
Pediatr Nephrol
; 39(4): 1053-1063, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968538
2.
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Prenat Diagn
; 44(2): 196-204, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37594370
3.
Urethral luminal epithelia are castration-insensitive cells of the proximal prostate.
Prostate
; 80(11): 872-884, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497356
4.
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
BMC Med Genet
; 21(1): 38, 2020 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32085749
5.
Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients.
BJU Int
; 123(1): 130-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113772
6.
Straight to the Operating Room: An Emergent Surgery Track for Acute Testicular Torsion Transfers.
J Pediatr
; 192: 178-183, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246339
7.
Copy number variations in a population with prune belly syndrome.
Am J Med Genet A
; 176(11): 2276-2283, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285310
8.
Transscrotal Near Infrared Spectroscopy as a Diagnostic Test for Testis Torsion in Pediatric Acute Scrotum: A Prospective Comparison to Gold Standard Diagnostic Test Study.
J Urol
; 198(3): 694-701, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28392394
9.
Medical and dietary interventions for preventing recurrent urinary stones in children.
Cochrane Database Syst Rev
; 11: CD011252, 2017 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29117629
10.
Long-Term Outcomes of Bladder Neck Reconstruction without Augmentation Cystoplasty in Children.
J Urol
; 195(1): 155-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173106
11.
Diagnosing Testicular Torsion before Urological Consultation and Imaging: Validation of the TWIST Score.
J Urol
; 195(6): 1870-6, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26835833
12.
Reprogramming of human fibroblasts toward a cardiac fate.
Proc Natl Acad Sci U S A
; 110(14): 5588-93, 2013 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23487791
13.
DNA copy number variations in patients with persistent cloaca.
J Urol
; 191(5 Suppl): 1543-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679878
14.
DNA copy number variations in patients with 46,XY disorders of sex development.
J Urol
; 192(6): 1801-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24946221
15.
Evaluation and treatment of cryptorchidism: AUA guideline.
J Urol
; 192(2): 337-45, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24857650
16.
The use of autologous buccal mucosa grafts in vaginal reconstruction.
Curr Urol Rep
; 15(8): 428, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24948036
17.
Autologous buccal mucosa graft for repair of recurrent rectovaginal fistula.
Pediatr Surg Int
; 30(5): 533-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24626879
18.
PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.
Nat Commun
; 15(1): 339, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184690
19.
Genetic abnormalities in FOXP1 are associated with congenital heart defects.
Hum Mutat
; 34(9): 1226-30, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23766104
20.
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Am J Med Genet A
; 161A(10): 2487-94, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918653