PMC Articles for MedGen (Select 868321) - PMC - NCBI

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Items: 11

Select item 106667151.

A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype

Inshal Jawed, Ayesha Azhar Javed, Syeda Alisha Johar, Daayl N Mirza, Ayesha A Abdani, Asad Ali Khan

Womens Health (Lond) 2023; 19: 17455057231213270. Published online 2023 Nov 22. doi: 10.1177/17455057231213270

PMCID:: PMC10666715

Abstract Article PDF–766K

Select item 87537382.

The Genetic Sex of Two Intersexual Horses and Some Notes on the Karyotype of Normal Horses

Set Bornstein

Acta Vet Scand. 1967; 8(4): 291–300. Published online 1967 Dec 1. doi: 10.1186/BF03547818

PMCID:: PMC8753738

Summary PDF–1.5M

Select item 77922263.

A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs

Gabriele Flossmann, Christine Wurmser, Hubert Pausch, Amabel Tenghe, Jörg Dodenhoff, Günther Dahinten, Kay-Uwe Götz, Ingolf Russ, Ruedi Fries

BMC Genomics. 2021; 22: 38. Published online 2021 Jan 7. doi: 10.1186/s12864-020-07343-x

PMCID:: PMC7792226

Abstract Article PDF–2.6M

Select item 65568824.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Floor A. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Wlodarski, Sébastien Moutton, Frédéric Tran-Mau-Them, Christel Thauvin-Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute-Benejean, Roger L. Ladda, Susan L. Sell, Ange-Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

Am J Hum Genet. 2019 Jun 6; 104(6): 1040–1059. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.024

PMCID:: PMC6556882

Abstract Article PDF–4.1M

Select item 61399075.

The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report

Muritala A. Asafa, Rahman A. Bolarinwa, Omotayo A. Eluwole, Bolanle O. Ibitoye, Adesoji M. Adegoke, Oluwadare Ogunlade

J Med Case Rep. 2018; 12: 268. Published online 2018 Sep 17. doi: 10.1186/s13256-018-1793-x

PMCID:: PMC6139907

Abstract Article PDF–1.3M

Select item 40317596.

5α-reductase-2 Deficiency’s Effect on Human Fertility

Hey-Joo Kang, Julianne Imperato-McGinley, Yuan-Shan Zhu, Zev Rosenwaks

Fertil Steril. Author manuscript; available in PMC 2014 May 23.

Published in final edited form as: Fertil Steril. 2014 Feb; 101(2): 310–316. Published online 2014 Jan 8. doi: 10.1016/j.fertnstert.2013.11.128

PMCID:: PMC4031759

Abstract Article PDF–401K

Select item 32258977.

Six1 and Eya1 are critical regulators of peri-cloacal mesenchymal progenitors during genitourinary tract development

Chen Wang, Patricio Gargollo, Chaoshe Guo, Tielong Tang, Gerald Mingin, Ye Sun, Xue Li

Dev Biol. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Dev Biol. 2011 Dec 1; 360(1): 186–194. Published online 2011 Sep 24. doi: 10.1016/j.ydbio.2011.09.020

PMCID:: PMC3225897

Abstract Article PDF–5.7M

Select item 18672858.

p63 Coordinates Anogenital Modeling and Epithelial Cell Differentiation in the Developing Female Urogenital Tract

Tan A. Ince, Aida P. Cviko, Bradley J. Quade, Annie Yang, Frank D. McKeon, George L. Mutter, Christopher P. Crum

Am J Pathol. 2002 Oct; 161(4): 1111–1117. doi: 10.1016/S0002-9440(10)64387-8

PMCID:: PMC1867285

Abstract Article PDF–1.2M

Select item 15861849.

CHARGE syndrome

Kim D Blake, Chitra Prasad

Orphanet J Rare Dis. 2006; 1: 34. Published online 2006 Sep 7. doi: 10.1186/1750-1172-1-34

PMCID:: PMC1586184

Abstract Article PDF–522K

Select item 127757710.

Congenital retroflexion of the penis and inguinal cryptorchidism in a presumptive bovine twin with a 60,XY/60,XX/61,XX,+cen chromosome constitution.

W C Hare

Can J Comp Med. 1976 Oct; 40(4): 429–433.

PMCID:: PMC1277577

Summary Page Browse PDF–1.0M

Select item 2270311.

Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene

Carolyn R. Fisher, Kathy H. Graves, Albert F. Parlow, Evan R. Simpson

Proc Natl Acad Sci U S A. 1998 Jun 9; 95(12): 6965–6970. doi: 10.1073/pnas.95.12.6965

PMCID:: PMC22703

Abstract Article PDF–245K

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