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Items: 13

Select item 95926171.

Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats

Monika Stachowiak, Izabela Szczerbal, Joanna Nowacka-Woszuk, Tomasz Nowak, Natalia Sowinska, Anna Lukomska, Maciej Gogulski, Malgorzata Badura, Karolina Sklorz-Mencel, Dariusz Jagodka, Wojciech Nizanski, Stanislaw Dzimira, Marek Switonski

Sci Rep. 2022; 12: 17807. Published online 2022 Oct 24. doi: 10.1038/s41598-022-21718-y

PMCID:: PMC9592617

Article PDF–2.1M

Select item 93384702.

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello

Ital J Pediatr. 2022; 48: 132. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01330-6

PMCID:: PMC9338470

Article PDF–1.0M

Select item 88486813.

Comparative transcriptome analysis identifies crucial candidate genes and pathways in the hypothalamic-pituitary-gonadal axis during external genitalia development of male geese

Bincheng Tang, Shenqiang Hu, Qingyuan Ouyang, Tianhao Wu, Yao Lu, Jiwei Hu, Bo Hu, Liang Li, Jiwen Wang

BMC Genomics. 2022; 23: 136. Published online 2022 Feb 15. doi: 10.1186/s12864-022-08374-2

PMCID:: PMC8848681

Article PDF–4.1M

Select item 44128524.

Transcription activator-like effector nuclease (TALEN)-mediated female-specific sterility in the silkworm, Bombyx mori

Jun Xu, Yueqiang Wang, Zhiqian Li, Lin Ling, Baosheng Zeng, Anthony A. James, Anjiang Tan, Yongping Huang

Insect Mol Biol. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Insect Mol Biol. 2014 Dec; 23(6): 800–807. Published online 2014 Aug 13. doi: 10.1111/imb.12125

PMCID:: PMC4412852

Article PDF–1.3M

Select item 34432925.

Molecular Mechanisms of External Genitalia Development

Sarah D. Blaschko, Gerald R. Cunha, Laurence S. Baskin

Differentiation. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Differentiation. 2012 Oct; 84(3): 261–268. Published online 2012 Jul 11. doi: 10.1016/j.diff.2012.06.003

PMCID:: PMC3443292

Article PDF–1.3M

Select item 34298686.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T Gabbett, Louanne Hudgins, Jane A Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O M Wilkie

Hum Mutat. 2011 Apr; 32(4): E2069–E2078. Published online 2011 Feb 8. doi: 10.1002/humu.21457

PMCID:: PMC3429868

Article PDF–422K

Select item 10493257.

Partial trisomy 16 as a result of familial 16;20 translocation.

E V Davison, J R Beesley

J Med Genet. 1984 Oct; 21(5): 384–386. doi: 10.1136/jmg.21.5.384

PMCID:: PMC1049325

Summary Page Browse PDF–492K

Select item 103659758.

Late presentation of Swyer syndrome: A case report

Swasti Pathak, Gaurav Raj, Rishabh Pratap, Shivam Singh

Radiol Case Rep. 2023 Sep; 18(9): 3295–3298. Published online 2023 Jul 12. doi: 10.1016/j.radcr.2023.06.061

PMCID:: PMC10365975

Article PDF–842K

Select item 80052259.

Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report

Yoshiko Kurose, Tomonori Nagai, Kousuke Shigematsu, Takahiro Uotani, Taichi Akahori, Yasushi Takai, Hiroyuki Seki

J Med Case Rep. 2021; 15: 165. Published online 2021 Mar 28. doi: 10.1186/s13256-021-02758-w

PMCID:: PMC8005225

Article PDF–1.3M

Select item 712788910.

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

Esra Işık, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Özgür Çoğulu, Şükran Darcan, Ferda Özkınay

J Clin Res Pediatr Endocrinol. 2020 Mar; 12(1): 113–116. Published online 2020 Mar 19. doi: 10.4274/jcrpe.galenos.2019.2019.0023

PMCID:: PMC7127889

Article PDF–824K

Select item 526051011.

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Carlos I. Rivera-Pedroza, Jimena Barraza-García, Beatriz Paumard-Hernández, Julian Nevado, Carlos Orbea-Gallardo, Jaime Sánchez del Pozo, Karen E. Heath

Mol Syndromol. 2017 Jan; 8(1): 30–35. Published online 2016 Nov 17. doi: 10.1159/000452609

PMCID:: PMC5260510

Article PDF–553K

Select item 432446512.

Cyclopia: A Rare Condition with Unusual Presentation – A Case Report

Ghassan SA Salama, Mahmoud AF Kaabneh, Mohamed K Al-Raqad, Ibrahim MH Al-abdallah, Ayoub GA Shakkoury, Ruba AA Halaseh

Clin Med Insights Pediatr. 2015; 9: 19–23. Published online 2015 Feb 9. doi: 10.4137/CMPed.S21107

PMCID:: PMC4324465

Article PDF–1.9M

Select item 258843013.

A case of unrecognized female epispadias

Julierut Tantibhedhyangkul, Susannah D. Copland, Andrea M. Haqq, Thomas M. Price

Fertil Steril. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Fertil Steril. 2008 Nov; 90(5): 2017.e1–2017.e3. Published online 2008 Mar 7. doi: 10.1016/j.fertnstert.2007.12.055