PMC Articles for MedGen (Select 90968) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 28

<< First< Prev

Page of 2

Next >Last >>

Select item 54831851.

Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias

J. M. Swartz, R. Ciarlo, E. Denhoff, A. Abrha, D. A. Diamond, J. N. Hirschhorn, Y-M. Chan

J Pediatr Urol. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: J Pediatr Urol. 2017 Jun; 13(3): 293.e1–293.e6. Published online 2017 Jan 30. doi: 10.1016/j.jpurol.2017.01.004

PMCID:: PMC5483185

Article PDF–102K

Select item 97475522.

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Felipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, Rafael Loch Bastista, Nathalia Lisboa Gomes, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Francisco Tibor Denes, Berenice Bilharinho Mendonca, Sorahia Domenice

Mol Genet Genomic Med. 2022 Dec; 10(12): e2084. Published online 2022 Nov 11. doi: 10.1002/mgg3.2084

PMCID:: PMC9747552

Article PDF–1.8M

Select item 89603673.

A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies and failure to thrive

Julia M. Wang, Daniel V. Ho, Amy Kritzer, Jefferson Y. Chan

Hum Mutat. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Hum Mutat. 2022 Apr; 43(4): 471–476. Published online 2022 Feb 7. doi: 10.1002/humu.24337

PMCID:: PMC8960367

Article PDF–434K

Select item 87252054.

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

Sofia E. Luna, Daniel J. Wegner, Sarah Gale, Ping Yang, Abby Hollander, Lori St. Dennis-Feezle, Zeina M. Nabhan, Daniel S. Ory, F. Sessions Cole, Jennifer A. Wambach

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2021 Sep; 212: 105908. Published online 2021 May 10. doi: 10.1016/j.jsbmb.2021.105908

PMCID:: PMC8725205

Article PDF–438K

Select item 67318115.

Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

Dilharan D Eliezer, Himanshu Goel, Virginia M Turner, Aniruddh Deshpande

BMJ Case Rep. 2019; 12(9): e229938. Published online 2019 Sep 4. doi: 10.1136/bcr-2019-229938

PMCID:: PMC6731811

Article PDF–1.2M

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

Article PDF–343K

Select item 53258097.

Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn

Horm Res Paediatr. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Horm Res Paediatr. 2017; 87(4): 264–270. Published online 2016 Aug 24. doi: 10.1159/000448754

PMCID:: PMC5325809

Article PDF–343K

Select item 50964828.

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Cemil Koçyiğit, Serdar Sarıtaş, Gönül Çatlı, Hüseyin Onay, Bumin Nuri Dündar

J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 232–235. Published online 2016 Jun 6. doi: 10.4274/jcrpe.2637

PMCID:: PMC5096482

Article PDF–119K

Select item 48351589.

A Case of Beare-Stevenson Syndrome with Unusual Manifestations

Nitin Ron, Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie David

Am J Case Rep. 2016; 17: 254–258. Published online 2016 Apr 15. doi: 10.12659/AJCR.897177

PMCID:: PMC4835158

Article PDF–187K

Select item 403175910.

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

Article PDF–401K

Select item 361375111.

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

Joyce Y Wu, Ivan N McGown, Lin Lin, John C Achermann, Mark Harris, David M Cowley, Salim Aftimos, Kristen A Neville, Catherine S Choong, Andrew M Cotterill

Clin Endocrinol (Oxf) 2013 Apr; 78(4): 545–550. Published online 2013 Mar 12. doi: 10.1111/cen.12012

PMCID:: PMC3613751

Article PDF–185K

Select item 332281612.

Androgen Receptor Exon 1 Mutation Causes Androgen Insensitivity by Creating Phosphorylation Site and Inhibiting Melanoma Antigen-A11 Activation of NH₂- and Carboxyl-terminal Interaction-dependent Transactivation

William H. Lagarde, Amanda J. Blackwelder, John T. Minges, Andrew T. Hnat, Frank S. French, Elizabeth M. Wilson

J Biol Chem. 2012 Mar 30; 287(14): 10905–10915. Published online 2012 Feb 13. doi: 10.1074/jbc.M111.336081

PMCID:: PMC3322816

Article PDF–1.4M

Select item 101669913.

Anophthalmia with cleft palate and micrognathia: a new syndrome?

S R Phadke, A K Sharma, S S Agarwal

J Med Genet. 1994 Dec; 31(12): 960–961. doi: 10.1136/jmg.31.12.960

PMCID:: PMC1016699

Summary Page Browse PDF–405K

Select item 1050251514.

A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development

Yunting Yu, Peter A Lee, Lina Huerta-Saenz, Natalie G Allen

JCEM Case Rep. 2023 Sep; 1(5): luad103. Published online 2023 Sep 15. doi: 10.1210/jcemcr/luad103

PMCID:: PMC10502515

Article PDF–356K

Select item 897731315.

An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam

Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, Thi Minh Thi Ha

Case Rep Endocrinol. 2022; 2022: 6025916. Published online 2022 Mar 27. doi: 10.1155/2022/6025916

PMCID:: PMC8977313

Article PDF–1.1M

Select item 871767016.

An infant with 49XXXXY syndrome: a case report

N. P. G. C. R. Naotunna, C. Liyanage, N. Atapattu

J Med Case Rep. 2021; 15: 630. Published online 2021 Dec 30. doi: 10.1186/s13256-021-03188-4

PMCID:: PMC8717670

Article PDF–827K

Select item 748807317.

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