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Items: 13

Select item 52883281.

Transverse testicular ectopia with scrotal hypospadias but without inguinal hernia – Case report of a rare association

Pradeep Kajal, Kamal Nain Rattan, Namita Bhutani, Vijender Sangwan

Int J Surg Case Rep. 2017; 31: 167–169. Published online 2017 Jan 19. doi: 10.1016/j.ijscr.2017.01.044

PMCID:: PMC5288328

Abstract Article PDF–944K

Select item 103356842.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, Maria Concepción Alonso-Cerezo, Pilar Bahillo, Laura Bertholt, Isabel Esteva, Luis Castaño, Christa E. Flück

PLoS One. 2023; 18(7): e0287515. Published online 2023 Jul 11. doi: 10.1371/journal.pone.0287515

PMCID:: PMC10335684

Abstract Article PDF–1.4M

Select item 94468243.

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu, Peng Lin

BMC Med Genomics. 2022; 15: 188. Published online 2022 Sep 5. doi: 10.1186/s12920-022-01347-0

PMCID:: PMC9446824

Abstract Article PDF–1.4M

Select item 81331554.

New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report

Nail R. Akramov, Rafael F. Shavaliev, Ilsiya V. Osipova

Medicine (Baltimore) 2021 May 14; 100(19): e25864. Published online 2021 May 14. doi: 10.1097/MD.0000000000025864

PMCID:: PMC8133155

Abstract Article PDF–408K

Select item 59853775.

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler

J Clin Res Pediatr Endocrinol. 2018 Jun; 10(2): 100–107. Published online 2018 May 18. doi: 10.4274/jcrpe.5121

PMCID:: PMC5985377

Abstract Article PDF–250K

Select item 53358376.

Extended clinical features associated with novel Glis3 mutation: a case report

K. A. Alghamdi, A. B. Alsaedi, A. Aljasser, A. Altawil, Naglaa M. Kamal

BMC Endocr Disord. 2017; 17: 14. Published online 2017 Mar 2. doi: 10.1186/s12902-017-0160-z

PMCID:: PMC5335837

Abstract Article PDF–343K

Select item 37393787.

Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

Amrit Bhangoo, Francoise Paris, Pascal Philibert, Francoise Audran, Svetlana Ten, Charles Sultan

Asian J Androl. 2010 Jul; 12(4): 561–566. Published online 2010 Mar 22. doi: 10.1038/aja.2010.6

PMCID:: PMC3739378

Abstract Article PDF–450K

Select item 33165398.

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan

PLoS One. 2012; 7(3): e32505. Published online 2012 Mar 30. doi: 10.1371/journal.pone.0032505

PMCID:: PMC3316539

Abstract Article PDF–238K

Select item 108364539.

A scoping review on chordee correction in boys with ventral congenital penile curvature and hypospadias

Priyank Yadav, Adam Bobrowski, Ihtisham Ahmad, Jin Kyu Kim, Margarita Chancy, Dheidan Alshammari, Mandy Rickard, Armando J. Lorenzo, Darius Bagli, Michael E. Chua

Indian J Urol. 2024 Jan-Mar; 40(1): 17–24. Published online 2023 Dec 29. doi: 10.4103/iju.iju_277_23

PMCID:: PMC10836453

Abstract Article PDF–1.6M

Select item 1063655710.

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

Qaisar Ali Khan, Faiza Amatul‐Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin‐Carrion, Muhammad Afzal, Moses Alfaro

Clin Case Rep. 2023 Nov; 11(11): e8097. Published online 2023 Nov 9. doi: 10.1002/ccr3.8097

PMCID:: PMC10636557

Abstract Article PDF–571K

Select item 823235811.

Evaluation of Tunica Vaginalis Free Graft as a Better Alternative to Tunica Vaginalis Pedicled Flap for Providing Waterproof Cover in Stage II Hypospadias Repair

Charu Tiwari, Nitinkumar Borkar

Afr J Paediatr Surg. 2021 Apr-Jun; 18(2): 90–93. Published online 2021 Feb 18. doi: 10.4103/ajps.AJPS_93_20

PMCID:: PMC8232358

Abstract Article PDF–568K

Select item 753452012.

45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report

Yasuhiro Kawabe, Mihoko Yamaguchi, Satoshi Miyagaki, Takeshi Ota, Hidechika Morimoto, Atsushi Hattori, Maki Fukami, Jun Mori

Clin Pediatr Endocrinol. 2020; 29(4): 189–193. Published online 2020 Oct 3. doi: 10.1297/cpe.29.189

PMCID:: PMC7534520

Abstract Article PDF–4.5M

Select item 748807313.

Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy

Jasmine Gujral, Gertrude Costin, Divya Khurana, Mabel Yau, Elizabeth Wallach, Christopher J. Romero, Meredith Wilkes, Swathi Sethuram, Robert Rapaport

Int J Pediatr Endocrinol. 2020; 2020: 16. Published online 2020 Sep 9. doi: 10.1186/s13633-020-00087-1

PMCID:: PMC7488073

Abstract Article PDF–575K

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PMC Articles for MedGen (Select 786371) (13)
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Culaea inconstans isolate HAM22-BRSB-3-16S large subunit ribosomal RNA gene, par...
Culaea inconstans isolate HAM22-BRSB-3-16S large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2299300731|gb|OP415335.1|

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