PMC Articles for MedGen (Select 98138) - PMC

Result Filters

Links from MedGen

Items: 19

Select item 17346291.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

V. Cormier-Daire, M. Chauvet, S. Lyonnet, M. Briard, A. Munnich, M. Le Merrer

J Med Genet. 2000 Jul; 37(7): 520–524. doi: 10.1136/jmg.37.7.520

PMCID:: PMC1734629

Summary PDF–160K Cite

Select item 84602832.

Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review

Makiho Ishibashi, Takafumi Watanabe, Hyo Kyozuka, Akiko Yamaguchi, Kenichi Sato, Maki Sato, Hayato Go, Keiya Fujimori

Fukushima J Med Sci. 2021; 67(2): 83–88. Published online 2021 May 15. doi: 10.5387/fms.2020-28

PMCID:: PMC8460283

Article PubReader PDF–275K Cite

Select item 80803723.

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi

BMC Neurol. 2021; 21: 180. Published online 2021 Apr 28. doi: 10.1186/s12883-021-02204-w

PMCID:: PMC8080372

Article PubReader PDF–5.1M Cite

Select item 63101034.

Expanding the Phenotypic Spectrum Associated with OPHN1 Variants

Talia S. Schwartz, Monica H. Wojcik, Renee C. Pelletier, Heather L. Edward, Jonathan D. Picker, Ingrid A. Holm, Meghan C. Towne, Alan H. Beggs, Pankaj B. Agrawal

Eur J Med Genet. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Eur J Med Genet. 2019 Feb; 62(2): 137–143. Published online 2018 Jun 28. doi: 10.1016/j.ejmg.2018.06.015

PMCID:: PMC6310103

Article PubReader PDF–730K Cite

Select item 10509235.

Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

T Ogata, K Muroya, N Matsuo, J Hata, Y Fukushima, Y Suzuki

J Med Genet. 1997 Apr; 34(4): 331–334. doi: 10.1136/jmg.34.4.331

PMCID:: PMC1050923

Summary Page Browse PDF–926K Cite

Select item 10490216.

Ring chromosome 10 and its clinical features.

H Nakai, M Adachi, N Katsushima, N Yamazaki, M Sakamoto, K Tada

J Med Genet. 1983 Apr; 20(2): 142–144. doi: 10.1136/jmg.20.2.142

PMCID:: PMC1049021

Summary Page Browse PDF–528K Cite

Select item 10130147.

A Case of Trisomy 9

Murray Feingold, Leonard Atkins

J Med Genet. 1973 Jun; 10(2): 184–187. doi: 10.1136/jmg.10.2.184

PMCID:: PMC1013014

Summary Page Browse PDF–1.3M Cite

Select item 100983598.

A novel DEAH-box helicase 37 mutation associated with differences of sex development

Yun Wan, Richeng Yu, Jianhua Luo, Ping Huang, Xingju Zheng, Liqun Sun, Kui Hu

Front Endocrinol (Lausanne) 2023; 14: 1059159. Published online 2023 Mar 30. doi: 10.3389/fendo.2023.1059159

PMCID:: PMC10098359

Article PubReader PDF–5.9M Cite

Select item 95365009.

Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p

Melab Musabi, Ayman Saker, Jessi Baer, Peter Wang, Anahita Mohseni Meybodi, Chitra Prasad, Soume Bhattacharya

Clin Case Rep. 2022 Oct; 10(10): e6343. Published online 2022 Oct 6. doi: 10.1002/ccr3.6343

PMCID:: PMC9536500

Article PubReader PDF–1.4M Cite

Select item 933901410.

Dilemma on Indonesian adult with micropenis during COVID-19 pandemic: A case report and review article

Karin Dhia Fahmita, Deasy Ardiany

Ann Med Surg (Lond) 2022 Aug; 80: 104244. Published online 2022 Jul 31. doi: 10.1016/j.amsu.2022.104244

PMCID:: PMC9339014

Article PubReader PDF–2.2M Cite

Select item 895745211.

Reconstruction of a Scrotum by Combining Two Skin Flaps in a Ball Shape

Kazuya Kashiyama, Motoi Nakano, Akihito Higashi, Shoko Ashizuka, Yuki Moriuchi, Atsuhiko Iwao, Katsumi Tanaka

Case Rep Urol. 2022; 2022: 2808821. Published online 2022 Mar 19. doi: 10.1155/2022/2808821

PMCID:: PMC8957452

Article PubReader PDF–1.6M Cite

Select item 843661112.

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Manal M. Thomas, Engy A. Ashaat, Ghada A. Otaify, Samira Ismail, Mona L. Essawi, Mohamed S. Abdel-Hamid, Heba A. Hassan, Sonia A. Alsaiedi, Mona Aglan, Mona O. El Ruby, Samia Temtamy

Mol Syndromol. 2021 Aug; 12(5): 279–288. Published online 2021 Jul 22. doi: 10.1159/000516607

PMCID:: PMC8436611

Article PubReader PDF–513K Cite

Select item 799253613.

Agenesis of penis

Diya Pal, Dilip Kumar Pal

Urol Ann. 2020 Oct-Dec; 12(4): 379–381. Published online 2020 Oct 15. doi: 10.4103/UA.UA_29_20

PMCID:: PMC7992536

Article PubReader PDF–745K Cite

Select item 757665614.

A case of testicular atrophy associated with cystic fibrosis

Eriselda Profka, Giulia Rodari, Federico Giacchetti, Alfredo Berrettini, Gianantonio Manzoni, Valeria Daccò, Maura Arosio, Claudia Giavoli, Carla Colombo

Endocrinol Diabetes Metab Case Rep. 2020; 2020: 20-0095. Published online 2020 Aug 25. doi: 10.1530/EDM-20-0095

PMCID:: PMC7576656

Article PubReader PDF–547K Cite

Select item 682088915.

Laurence-Moon-Bardet-Biedl Syndrome: A Case Report

Bilal Ahmed Khan, Ashar Shahid, Maaz Bin Nazir, Kiran Shafiq Khan, Avinash Punshi

Cureus. 2019 Sep; 11(9): e5618. Published online 2019 Sep 10. doi: 10.7759/cureus.5618

PMCID:: PMC6820889

Article PubReader PDF–275K Cite

Select item 562722616.

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy

Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani

Clin Pediatr Endocrinol. 2017; 26(4): 251–257. Published online 2017 Sep 28. doi: 10.1297/cpe.26.251