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Select item 115794301.

Fetal lower urinary tract obstruction: international Delphi consensus on management and core outcome set

H. J. Mustafa, A. Khalil, S. Johnson, S. J. Gordijn, W. Ganzevoort, C. Melling, C. J. Koh, G. T. Mandy, M. D. Kilby, A. Johnson, R. A. Quintero, G. Ryan, A. A. Shamshirsaz, A. A. Nassr, on behalf of the LUTO Working Group

Ultrasound Obstet Gynecol. 2024 Nov; 64(5): 635–650. Published online 2024 Oct 31. doi: 10.1002/uog.27684

PMCID:: PMC11579430

Article PDF–792K

Select item 115271822.

Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach

Mark Stanworth, Shu-Dong Zhang

PLoS One. 2024; 19(10): e0313139. Published online 2024 Oct 31. doi: 10.1371/journal.pone.0313139

PMCID:: PMC11527182

Article PDF–2.4M

Select item 114149533.

Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Four Consecutive Pregnancies with Megacystis

Susana Saraiva, M. Solinho, C. Lourenço, C. Brito

J Med Ultrasound. 2024 Jul-Sep; 32(3): 255–258. Published online 2023 Sep 23. doi: 10.4103/jmu.jmu_111_22

PMCID:: PMC11414953

Article PDF–1.3M

Select item 113432084.

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload

Zhen Zhou, Kgosi Hughes, Nisha Saif, Hyoseon Kim, Michael P. Massett, Mingjie Zheng, Alana C. Cecchi, Dongchuan Guo, David R. Murdock, Ping Pan, Jelita S. Clinton, Jun Wang, John M. Greally, Dianna M. Milewicz

Version 1. bioRxiv. Preprint. 2024 Aug 16. doi: 10.1101/2024.08.15.608063

PMCID:: PMC11343208

Article PDF–1.8M

Select item 112497445.

Obstructive or non-obstructive megacystis: a prenatal dilemma

Martina Mandaletti, Elisa Cerchia, Elena Ruggiero, Elisabetta Teruzzi, Simona Bastonero, Annasilvia Pertusio, Marcello Della Corte, Andrea Sciarrone, Simona Gerocarni Nappo

Front Pediatr. 2024; 12: 1379267. Published online 2024 Jul 2. doi: 10.3389/fped.2024.1379267

PMCID:: PMC11249744

Article PDF–1.7M

Select item 111350996.

The challenging diagnosis and management of the prune belly syndrome: A case report

Dhouha Kamoun, Amel Ben Hamed, Amina Abdenadher, Nadia Kolsi, Amira Bouraoui, Nedia Henteti

SAGE Open Med Case Rep. 2024; 12: 2050313X241258850. Published online 2024 May 28. doi: 10.1177/2050313X241258850

PMCID:: PMC11135099

Article PDF–624K

Select item 110633347.

Appearance of the bladder on initial voiding cystogram in boys with PUV and its relation to pre and postnatal findings

S. Pecorelli, C. Ferdynus, J. Delmas, L. Harper

Front Pediatr. 2024; 12: 1380502. Published online 2024 Apr 18. doi: 10.3389/fped.2024.1380502

PMCID:: PMC11063334

Article PDF–191K

Select item 110121728.

Antenatal Determinants of Postnatal Renal Function in Fetal Megacystis: A Systematic Review

Ugo Maria Pierucci, Irene Paraboschi, Guglielmo Mantica, Sara Costanzo, Angela Riccio, Giorgio Giuseppe Orlando Selvaggio, Gloria Pelizzo

Diagnostics (Basel) 2024 Apr; 14(7): 756. Published online 2024 Apr 2. doi: 10.3390/diagnostics14070756

PMCID:: PMC11012172

Article PDF–1.0M

Select item 109443339.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition

Marcia Mejia, Mónica Royero Arias, Jonathan Pimiento Figueroa, Walter Romero Espitia

Cureus. 2024 Feb; 16(2): e54255. Published online 2024 Feb 15. doi: 10.7759/cureus.54255

PMCID:: PMC10944333

Article PDF–628K

Select item 1088477910.

Conservative Management With a Multimodal Approach of a 12-Week Cervical Ectopic Pregnancy With Fetal Megacystis

Daniela Nuti Oprescu, Ana Elena Martiniuc, Monica Mihaela Cirstoiu, Elena Theodora Giubegeanu, Oana Daniela Toader

Cureus. 2024 Jan; 16(1): e52771. Published online 2024 Jan 23. doi: 10.7759/cureus.52771

PMCID:: PMC10884779

Article PDF–577K

Select item 1077019511.

Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt

I. Gottschalk, C. Berg, T. Menzel, J. S. Abel, A. Kribs, M. Dübbers, J. Kohaut, L. T. Weber, C. Taylan, S. Habbig, M. C. Liebau, T. M. Boemers, E. C. Weber

Arch Gynecol Obstet. 2024; 309(1): 145–158. Published online 2023 Jan 5. doi: 10.1007/s00404-022-06905-6

PMCID:: PMC10770195

Article PDF–652K

Select item 1070589312.

Cloacal Dysgenesis Sequence

Nicolae Gică, Livia Apostol, Iulia Huluță, Corina Gică, Nicoleta Gana, Ana-Maria Vayna

Diagnostics (Basel) 2023 Dec; 13(23): 3529. Published online 2023 Nov 24. doi: 10.3390/diagnostics13233529

PMCID:: PMC10705893

Article PDF–548K

Select item 1066890713.

Megacystis in the First Trimester as an Unreported Sonographic Finding of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Confirmed by Whole-exome Sequencing

Yan-Dong Yang, Dong-Zhi Li

J Med Ultrasound. 2023 Jul-Sep; 31(3): 242–244. Published online 2022 Aug 18. doi: 10.4103/jmu.jmu_30_22

PMCID:: PMC10668907

Article PDF–845K

Select item 1065641414.

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping

Chuanju Chen, Hao Shi, Wenbin Niu, Xiao Bao, Jingya Yang, Haixia Jin, Wenyan Song, Yingpu Sun

J Assist Reprod Genet. 2023 Dec; 40(12): 2933–2943. Published online 2023 Sep 26. doi: 10.1007/s10815-023-02939-0

PMCID:: PMC10656414

Article PDF–8.2M

Select item 1059889215.

Congenital lower urinary tract obstruction with spontaneous fetal bladder rupture due to posterior urethral valves: a case report

Max Adriaenssens, Veerle De Boe

J Med Case Rep. 2023; 17: 445. Published online 2023 Oct 25. doi: 10.1186/s13256-023-04163-x

PMCID:: PMC10598892

Article PDF–1.0M

Select item 1051268716.

An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence

Çiğdem Kunt İşgüder, Mine Kanat Pektaş, Doğan Köseoğlu, Şahin Takçı

Turk Patoloji Derg. 2020; 36(1): 64–67. Published online 2020 Jan 15. doi: 10.5146/tjpath.2018.01440

PMCID:: PMC10512687

Article PDF–871K

Select item 1024172617.

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

Robert M. Geraghty, Sarah Orr, Eric Olinger, Ruxandra Neatu, Miguel Barroso-Gil, Holly Mabillard, Genomics England Research Consortium, Ian Wilson, John A. Sayer

J Rare Dis (Berlin) 2023; 2(1): 9. Published online 2023 Jun 5. doi: 10.1007/s44162-023-00012-z

PMCID:: PMC10241726

Article PDF–1.3M

Select item 1015996318.

Trends in Termination of Pregnancy for Foetal Urological Abnormalities in England and Wales: a Cross-Sectional Study

Megan Jeffery, Sarah Tai-MacArthur, Panicos Shangaris, Martin Duggan, Julia Spencer, Srividhya Sankaran

Reprod Sci. 2023 Apr; 30(4): 1350–1358. Published online 2022 Sep 29. doi: 10.1007/s43032-022-01094-8

PMCID:: PMC10159963

Article PDF–889K

Select item 1015842219.

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

Mari Mori, Amanda R. Clause, Kristen Truxal, R. Tanner Hagelstrom, Kandamurugu Manickam, Stephen G. Kaler, Vinay Prasad, Jonathan Windster, Maria M. Alves, Carlo Di Lorenzo

JPGN Rep. 2022 Nov; 3(4): e258. Published online 2022 Oct 20. doi: 10.1097/PG9.0000000000000258