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Select item 36497951.

Fertile Eunuch Syndrome in Association with Biventricular Noncompaction, Bicuspid Aortic Valve, Severe Aortic Stenosis, and Talipes Equinovarus

Kazim Serhan Ozcan, Damirbek Osmonov, Servet Altay, Baris Gungor, Mehmet Eren

Tex Heart Inst J. 2013; 40(2): 204–206.

PMCID:: PMC3649795

Article PDF–2.4M

Select item 59198312.

Constitutively active follicle-stimulating hormone receptor enables androgen-independent spermatogenesis

Olayiwola O. Oduwole, Hellevi Peltoketo, Ariel Poliandri, Laura Vengadabady, Marcin Chrusciel, Milena Doroszko, Luna Samanta, Laura Owen, Brian Keevil, Nafis A. Rahman, Ilpo T. Huhtaniemi

J Clin Invest. 2018 May 1; 128(5): 1787–1792. Published online 2018 Mar 26. doi: 10.1172/JCI96794

PMCID:: PMC5919831

Article PDF–6.0M

Select item 100876953.

Wide‐ranging migration and destination of early olfactory placode‐derived neurons in chick embryos

Momoko Miyakawa, Shizuko Murakmai, Yasuo Uchiyama

Anat Rec (Hoboken) 2023 Feb; 306(2): 298–310. Published online 2022 Sep 22. doi: 10.1002/ar.25080

PMCID:: PMC10087695

Article PDF–15M

Select item 96666914.

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study

Andrew A. Dwyer, Maria Stamou, Isabella R. McDonald, Ella Anghel, Kimberly H. Cox, Kathryn B. Salnikov, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian

Front Endocrinol (Lausanne) 2022; 13: 1054447. Published online 2022 Nov 2. doi: 10.3389/fendo.2022.1054447

PMCID:: PMC9666691

Article PDF–532K

Select item 43534205.

RNA-Seq Analysis of Differential Gene Expression in Electroporated Chick Embryonic Spinal Cord

Felipe M. Vieceli, C.Y. Irene Yan

J Vis Exp. 2014; (93): 51951. Published online 2014 Nov 1. doi: 10.3791/51951

PMCID:: PMC4353420

Article PDF–551K

Select item 35494596.

Computational Fluid Dynamics of Developing Avian Outflow Tract Heart Valves

Koonal N. Bharadwaj, Cassie Spitz, Akshay Shekhar, Huseyin C. Yalcin, Jonathan T. Butcher

Ann Biomed Eng. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Ann Biomed Eng. 2012 Oct; 40(10): 2212–2227. Published online 2012 Apr 26. doi: 10.1007/s10439-012-0574-8

PMCID:: PMC3549459

Article PDF–4.9M

Select item 110416017.

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock

J Med Genet. 2024 May; 61(5): 490–501. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109531

PMCID:: PMC11041601

Article PDF–3.2M

Select item 109773538.

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

Wanxue Xu, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian, Margaret F. Lippincott

Hum Genet. Author manuscript; available in PMC 2024 Mar 28.

Published in final edited form as: Hum Genet. 2023 Nov; 142(11): 1611–1619. Published online 2023 Oct 7. doi: 10.1007/s00439-023-02601-w

PMCID:: PMC10977353

Article PDF–661K

Select item 109302929.

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism

ZENG Wang, LI Jiada, WANG Xinying, JIANG Fang, MEN Meichao

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 847–857. doi: 10.11817/j.issn.1672-7347.2022.220071

PMCID:: PMC10930292

Article PDF–1.0M

Select item 1092777910.

Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease

Jarod Rutledge, Benoit Lehallier, Pardis Zarifkar, Patricia Moran Losada, Marian Shahid-Besanti, Dan Western, Priyanka Gorijala, Sephira Ryman, Maya Yutsis, Gayle K. Deutsch, Elizabeth Mormino, Alexandra Trelle, Anthony D. Wagner, Geoffrey A. Kerchner, Lu Tian, Carlos Cruchaga, Victor W. Henderson, Thomas J. Montine, Per Borghammer, Tony Wyss-Coray, Kathleen L. Poston

Acta Neuropathol. 2024; 147(1): 52. Published online 2024 Mar 11. doi: 10.1007/s00401-024-02706-0

PMCID:: PMC10927779

Article PDF–5.4M

Select item 1084717411.

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins

Agata Zygmunt-Górska, Małgorzata Wójcik, Aleksandra Gilis-Januszewska, Anna Starmach, Mirosław Bik-Multanowski, Jerzy B. Starzyk

Hormones (Athens) 2024; 23(1): 69–79. Published online 2023 Dec 26. doi: 10.1007/s42000-023-00510-1

Correction in:: Hormones (Athens). 2024 Mar 18

PMCID:: PMC10847174

Article PDF–654K

Select item 1084625612.

Reduced olfactory performance is associated with changed microbial diversity, oralization, and accumulation of dead biomaterial in the nasal olfactory area

Christina Kumpitsch, Florian Ph. S. Fischmeister, Sonja Lackner, Sandra Holasek, Tobias Madl, Hansjörg Habisch, Axel Wolf, Veronika Schöpf, Christine Moissl-Eichinger

Microbiol Spectr. 2024 Feb; 12(2): e01549-23. Published online 2024 Jan 9. doi: 10.1128/spectrum.01549-23

PMCID:: PMC10846256

Article PDF–2.9M

Select item 1081053113.

The forkhead transcription factor Foxj1 controls vertebrate olfactory cilia biogenesis and sensory neuron differentiation

Dheeraj Rayamajhi, Mert Ege, Kirill Ukhanov, Christa Ringers, Yiliu Zhang, Inyoung Jung, Percival P. D’Gama, Summer Shijia Li, Mehmet Ilyas Cosacak, Caghan Kizil, Hae-Chul Park, Emre Yaksi, Jeffrey R. Martens, Steven L. Brody, Nathalie Jurisch-Yaksi, Sudipto Roy

PLoS Biol. 2024 Jan; 22(1): e3002468. Published online 2024 Jan 25. doi: 10.1371/journal.pbio.3002468

PMCID:: PMC10810531

Article PDF–3.7M

Select item 1080285914.

Nasal construction in congenital arhinia due to novel SMCHD1 gene variant

Marie Bargiela, Janina Kueper, Arman T. Serebrakian, MaKenna R. Browne, Susan Brogna, Zachary S. Peacock, Branko Bojovic, Natalie D. Shaw, Eric C. Liao

J Craniofac Surg. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: J Craniofac Surg. 2023 May 1; 34(3): 849–854. Published online 2023 Mar 22. doi: 10.1097/SCS.0000000000009261

PMCID:: PMC10802859

Article PDF–1.9M

Select item 1079600815.

Large-scale gene expression changes in APP/PSEN1 and GFAP mutation models exhibit high congruence with Alzheimer’s disease

Stephen C. Gammie, Albee Messing, Mason A. Hill, Cynthia A. Kelm-Nelson, Tracy L. Hagemann

PLoS One. 2024; 19(1): e0291995. Published online 2024 Jan 18. doi: 10.1371/journal.pone.0291995

PMCID:: PMC10796008

Article PDF–4.1M

Select item 1072019216.

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria

Suaad Hamsho, Mohammed Alaswad, Mouhammed Sleiay, Ayham Alhusseini

BMC Endocr Disord. 2023; 23: 274. Published online 2023 Dec 14. doi: 10.1186/s12902-023-01525-w

PMCID:: PMC10720192

Article PDF–1.2M

Select item 1071568417.

Non-neuronal expression of SARS-CoV-2 entry genes in the olfactory system suggests mechanisms underlying COVID-19-associated anosmia

David H. Brann, Tatsuya Tsukahara, Caleb Weinreb, Marcela Lipovsek, Koen Van den Berge, Boying Gong, Rebecca Chance, Iain C. Macaulay, Hsin-Jung Chou, Russell B. Fletcher, Diya Das, Kelly Street, Hector Roux de Bezieux, Yoon-Gi Choi, Davide Risso, Sandrine Dudoit, Elizabeth Purdom, Jonathan Mill, Ralph Abi Hachem, Hiroaki Matsunami, Darren W. Logan, Bradley J. Goldstein, Matthew S. Grubb, John Ngai, Sandeep Robert Datta

Sci Adv. 2020 Jul; 6(31): eabc5801. Published online 2020 Jul 31. doi: 10.1126/sciadv.abc5801

PMCID:: PMC10715684

Article PDF–2.3M

Select item 1068054618.

Гормональные и генетические причины развития крипторхизма

Орешкина Е. М., Болотова Н. В., Пылаев Т. Е., Аверьянов А. П., Райгородская Н. Ю.

Probl Endokrinol (Mosk) 2023; 69(5): 99–106. Russian. Published online 2023 Nov 12. doi: 10.14341/probl13242

PMCID:: PMC10680546

Article PDF–172K

Select item 1063406319.

Association between SARS-CoV-2 variants and post COVID-19 condition: findings from a longitudinal cohort study in the Belgian adult population

Huyen Nguyen Thi Khanh, Laura Cornelissen, Diego Castanares-Zapatero, Robby De Pauw, Dieter Van Cauteren, Stefaan Demarest, Sabine Drieskens, Brecht Devleesschauwer, Karin De Ridder, Rana Charafeddine, Pierre Smith

BMC Infect Dis. 2023; 23: 774. Published online 2023 Nov 8. doi: 10.1186/s12879-023-08787-8

PMCID:: PMC10634063

Article PDF–1.6M

Select item 1062717020.

Assessment of heterogeneity among participants in the Parkinson’s Progression Markers Initiative cohort using α-synuclein seed amplification: a cross-sectional study

Andrew Siderowf, Luis Concha-Marambio, David-Erick Lafontant, Carly M Farris, Yihua Ma, Paula A Urenia, Hieu Nguyen, Roy N Alcalay, Lana M Chahine, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kalpana Merchant, Brit Mollenhauer, Kathleen L Poston, John Seibyl, Tanya Simuni, Caroline M Tanner, Daniel Weintraub, Aleksandar Videnovic, Seung Ho Choi, Ryan Kurth, Chelsea Caspell-Garcia, Christopher S Coffey, Mark Frasier, Luis M A Oliveira, Samantha J Hutten, Todd Sherer, Kenneth Marek, Claudio Soto

Lancet Neurol. Author manuscript; available in PMC 2023 Nov 6.

Published in final edited form as: Lancet Neurol. 2023 May; 22(5): 407–417. doi: 10.1016/S1474-4422(23)00109-6

PMCID:: PMC10627170

Article PDF–451K

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