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Items: 1 to 20 of 236

1.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism
Bradley A. Welch, Hyun-ju Cho, Seyit Ahmet Ucakturk, Stephen Matthew Farmer, Semra Cetinkaya, Ayhan Abaci, Gamze Akkus, Enver Simsek, Leman Damla Kotan, Ihsan Turan, Fatih Gurbuz, Bilgin Yuksel, Susan Wray, A. Kemal Topaloglu
J Neuroendocrinol. Author manuscript; available in PMC 2024 Sep 3.
Published in final edited form as: J Neuroendocrinol. 2022 Apr; 34(4): e13103. Published online 2022 Feb 16. doi: 10.1111/jne.13103
PMCID:
PMC11370887
ArticlePDF–1.7M
2.
Research on Residual Gas Adsorption on Surface of Hexagonal Boron Nitride-Based Memristor
Cheng Ding, Yue Chen, Jin Yang, Shibin Lu, Yuehua Dai
ACS Omega. 2024 Aug 13; 9(32): 34597–34607. Published online 2024 Jul 31. doi: 10.1021/acsomega.4c02990
PMCID:
PMC11325510
ArticlePDF–8.2M
3.
Investigation on hydrogenation performance of Mg17Al12 by adding Y
Hua Ning, Guang Wei, Jianhong Chen, Zhipeng Meng, Zhiwen Wang, Zhiqiang Lan, Xiantun Huang, Junyu Chen, Peilin Qing, Haizhen Liu, Wenzheng Zhou, Jin Guo
Sci Rep. 2024; 14: 18115. Published online 2024 Aug 5. doi: 10.1038/s41598-024-69189-7
PMCID:
PMC11300876
ArticlePDF–2.9M
4.
Liver Transcriptomic Profiles of Ruminant Species Fed Spent Hemp Biomass Containing Cannabinoids
Agung Irawan, Massimo Bionaz
Genes (Basel) 2024 Jul; 15(7): 963. Published online 2024 Jul 22. doi: 10.3390/genes15070963
PMCID:
PMC11275923
ArticlePDF–3.0M
5.
Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12
Nur Berna Celik, Abdullah Sezer, Nebiyye Genel, Senay Savas-Erdeve, İbrahim Karaman, Semra Cetinkaya
Front Endocrinol (Lausanne) 2024; 15: 1426916. Published online 2024 Jul 5. doi: 10.3389/fendo.2024.1426916
PMCID:
PMC11257912
ArticlePDF–889K
6.
Onco@home: comparing the costs and reimbursement of cancer treatment at home with the standard of care
Sarah Misplon, Wim Marneffe, Jana Missiaen, Dries Myny, Inge Decock, Steve Lervant, Koen Vaneygen
Arch Public Health. 2024; 82: 95. Published online 2024 Jun 24. doi: 10.1186/s13690-024-01317-1
PMCID:
PMC11194927
ArticlePDF–1.5M
7.
Kallmann’s syndrome, a neuronal migration defect
A. Cariboni, R. Maggi
Cell Mol Life Sci. 2006 Nov; 63(21): 2512–2526. Published online 2006 Sep 4. doi: 10.1007/s00018-005-5604-3
PMCID:
PMC11136178
ArticlePDF–306K
8.
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants
Jianmei Zhang, Suhong Yang, Yan Zhang, Fei Liu, Lili Hao, Lianshu Han
Front Endocrinol (Lausanne) 2024; 15: 1343977. Published online 2024 Apr 2. doi: 10.3389/fendo.2024.1343977
PMCID:
PMC11019388
ArticlePDF–3.3M
9.
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
ArticlePDF–1.0M
10.
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation
Kentaro Ichioka, Takeshi Yoshikawa, Hiroko Kimura, Ryoichi Saito
BMJ Case Rep. 2024; 17(1): e258042. Published online 2024 Jan 25. doi: 10.1136/bcr-2023-258042
PMCID:
PMC10826480
ArticlePDF–1.7M
11.
Analysis of DWT–DCT watermarking algorithm on digital medical imaging
Rajkumar Soundrapandiyan, Kannadasan Rajendiran, Arunkumar Gurunathan, Akila Victor, Ramani Selvanambi
J Med Imaging (Bellingham) 2024 Jan; 11(1): 014002. Published online 2023 Dec 28. doi: 10.1117/1.JMI.11.1.014002
PMCID:
PMC10754357
ArticlePDF–1.8M
12.
Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report
Qingqing Tian, Jingjing Tang, Lihong Wang, Jiaojiao Liu, Xiangshan Li, Zhuozhuo Cao, Zhufang Tian
BMC Endocr Disord. 2023; 23: 213. Published online 2023 Oct 5. doi: 10.1186/s12902-023-01455-7
PMCID:
PMC10557371
ArticlePDF–1.1M
13.
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A. Lopez, Kyungreem Han, Keiji Honda, Carmen C. Brewer, John A. Butman, Robert J. Morell, Donna M. Martin, Andrew J. Griffith
Hum Genet. 2023; 142(10): 1499–1517. Published online 2023 Sep 5. doi: 10.1007/s00439-023-02581-x
PMCID:
PMC10511616
ArticlePDF–3.0M
14.
Expanding the reproductive organ phenotype of CHD7-spectrum disorder
Tomoki T. Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F. Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Elaine Zackai, Kai Jiao, Rebecca Linn, Caitlin Alexander, Mark Zaontz, Maria G. Vogiatzi, Louise C. Pyle
Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1418–1424. Published online 2023 Feb 16. doi: 10.1002/ajmg.a.63148
PMCID:
PMC10501305
ArticlePDF–329K
15.
Alteration of replication protein A binding mode on single-stranded DNA by NSMF potentiates RPA phosphorylation by ATR kinase
Yujin Kang, Ye Gi Han, Keon Woo Khim, Woo Gyun Choi, Min Kyung Ju, Kibeom Park, Kyeong Jin Shin, Young Chan Chae, Jang Hyun Choi, Hongtae Kim, Ja Yil Lee
Nucleic Acids Res. 2023 Aug 25; 51(15): 7936–7950. Published online 2023 Jun 28. doi: 10.1093/nar/gkad543
PMCID:
PMC10450186
ArticlePDF–1.6M
16.
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim
Sci Rep. 2023; 13: 12984. Published online 2023 Aug 10. doi: 10.1038/s41598-023-40037-4
PMCID:
PMC10415337
ArticlePDF–2.2M
17.
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development
Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim
Sci Rep. 2023; 13: 12309. Published online 2023 Jul 29. doi: 10.1038/s41598-023-38017-9
PMCID:
PMC10387110
ArticlePDF–11M
18.
Protective Effects of Bacillus subtilis HH2 against Oral Enterotoxigenic Escherichia coli in Beagles
Jinpeng Yang, Xinyue Zhang, Ziyao Zhou, Caiwu Li, Run Luo, Haifeng Liu, Hualin Fu, Zhijun Zhong, Liuhong Shen, Suizhong Cao, Yan Luo, Desheng Li, Guangneng Peng
Vet Sci. 2023 Jul; 10(7): 432. Published online 2023 Jul 3. doi: 10.3390/vetsci10070432
PMCID:
PMC10384286
ArticlePDF–3.8M
19.
Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants
Bronwyn G. A. Stuckey, Timothy W. Jones, Bryan K. Ward, Scott G. Wilson
Genes (Basel) 2023 Jun; 14(6): 1204. Published online 2023 May 31. doi: 10.3390/genes14061204
PMCID:
PMC10298326
ArticlePDF–957K
20.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants
Alexander F. Gileta, Maria L. Helgeson, Jacqueline M. M. Leonard, Louise C. Pyle, Hari P. Subramanian, Kelly Arndt, Colin P. Hawkes, Daniela del Gaudio
Am J Med Genet A. Author manuscript; available in PMC 2023 Jun 12.
Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 889–893. Published online 2020 Dec 23. doi: 10.1002/ajmg.a.62023
PMCID:
PMC10258807
ArticlePDF–360K

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