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Items: 1 to 20 of 500

1.
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers
Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy
Orphanet J Rare Dis. 2010; 5: 24. Published online 2010 Sep 29. doi: 10.1186/1750-1172-5-24
PMCID:
PMC2956717
ArticlePDF–2.0M
2.
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
Silvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, Giorgia Bottaro, Antonio Novelli, Sandro Loche, Marco Cappa
Front Endocrinol (Lausanne) 2024; 15: 1364234. Published online 2024 Mar 26. doi: 10.3389/fendo.2024.1364234
PMCID:
PMC11002242
ArticlePDF–1.3M
3.
Sex-based differences in growth-related IGF1 signaling in response to PAPP-A2 deficiency: comparative effects of rhGH, rhIGF1 and rhPAPP-A2 treatments
María del Mar Fernández-Arjona, Juan Antonio Navarro, Antonio Jesús López-Gambero, Marialuisa de Ceglia, Miguel Rodríguez, Leticia Rubio, Fernando Rodríguez de Fonseca, Vicente Barrios, Julie A. Chowen, Jesús Argente, Patricia Rivera, Juan Suárez
Biol Sex Differ. 2024; 15: 34. Published online 2024 Apr 8. doi: 10.1186/s13293-024-00603-5
PMCID:
PMC11000399
ArticlePDF–9.4M
4.
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Amarens Hoogenboom, Farah A. Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M. van Haelst
Eur J Hum Genet. 2024 Apr; 32(4): 435–439. Published online 2024 Jan 25. doi: 10.1038/s41431-023-01527-1
PMCID:
PMC10999433
ArticlePDF–1.0M
5.
Distribution of TGFBI variants in patients with early onset glaucoma
Viney Gupta, Arnav Panigrahi, Bindu I. Somarajan, Shikha Gupta, Koushik Tripathy, Abhishek Singh, Anshul Sharma, Radhika Tandon, Dibyabhaba Pradhan, Arundhati Sharma, Tushar Kushwaha, Krishna K. Inampudi
Mol Vis. 2023; 29: 365–377. Published online 2023 Dec 26.
PMCID:
PMC10994680
ArticlePDF–631K
6.
A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis
Lana Vukadin, Bohye Park, Mostafa Mohamed, Huashi Li, Amr Elkholy, Alex Torrelli-Diljohn, Jung-Hyun Kim, Kyuho Jeong, James M. Murphy, Caitlin A. Harvey, Sophia Dunlap, Leah Gehrs, Hanna Lee, Hyung-Gyoon Kim, Jay Prakash Sah, Seth N. Lee, Denise Stanford, Robert A. Barrington, Jeremy B. Foote, Anna G. Sorace, Robert S. Welner, Blake E. Hildreth, III, Ssang-Taek Steve Lim, Eun-Young Erin Ahn
JCI Insight. 2024 Mar 8; 9(5): e175053. Published online 2024 Jan 30. doi: 10.1172/jci.insight.175053
PMCID:
PMC10972584
ArticlePDF–5.3M
7.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Genes (Basel) 2024 Mar; 15(3): 346. Published online 2024 Mar 8. doi: 10.3390/genes15030346
PMCID:
PMC10970670
ArticlePDF–1.1M
8.
Spectrum of Mutations in PTPN11 in Russian Cohort
Anna Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oksana Ryzhkova
Genes (Basel) 2024 Mar; 15(3): 345. Published online 2024 Mar 7. doi: 10.3390/genes15030345
PMCID:
PMC10970286
ArticlePDF–942K
9.
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
Xiaohui Fu, Shuli Chen, Xiao Huang, Qinghua Lu, Yunfei Cui, Weinan Lin, Qin Yang
Front Endocrinol (Lausanne) 2024; 15: 1345067. Published online 2024 Mar 13. doi: 10.3389/fendo.2024.1345067
PMCID:
PMC10965776
ArticlePDF–1.5M
10.
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274
PMCID:
PMC10958179
ArticlePDF–1.2M
11.
Autoimmune hemolytic anemia and thrombocytopenia in a Chinese patient with heterozygous NBAS mutations: Case report
Yuanlin Yang, Xiaoming Fei, Fang Lei, Lixia Wang, Xianqiu Yu, Yu Tang
Medicine (Baltimore) 2024 Mar 22; 103(12): e36975. Published online 2024 Mar 22. doi: 10.1097/MD.0000000000036975
PMCID:
PMC10956969
ArticlePDF–513K
12.
Deficiency of heme oxygenase 1a causes detrimental effects on cardiac function
Hong Wang, Juuso Siren, Sanni Perttunen, Katariina Immonen, Yu‐Chia Chen, Suneeta Narumanchi, Riikka Kosonen, Jere Paavola, Mika Laine, Ilkka Tikkanen, Päivi Lakkisto
J Cell Mol Med. 2024 Apr; 28(7): e18243. Published online 2024 Mar 20. doi: 10.1111/jcmm.18243
PMCID:
PMC10955162
ArticlePDF–15M
13.
Nanoparticle-mediated transgene expression of insulin-like growth factor 1 in the growth restricted guinea pig placenta increases placenta nutrient transporter expression and fetal glucose concentrations
Rebecca L. Wilson, Kristin Lampe, Mukesh K. Gupta, Craig L. Duvall, Helen N. Jones
Mol Reprod Dev. Author manuscript; available in PMC 2024 Mar 18.
Published in final edited form as: Mol Reprod Dev. 2022 Nov; 89(11): 540–553. Published online 2022 Sep 12. doi: 10.1002/mrd.23644
PMCID:
PMC10947605
ArticlePDF–1.7M
14.
Placental nanoparticle gene therapy normalizes gene expression changes in the fetal liver associated with fetal growth restriction in a fetal sex-specific manner
Rebecca L. Wilson, Kendal K. Stephens, Helen N. Jones
J Dev Orig Health Dis. Author manuscript; available in PMC 2024 Mar 18.
Published in final edited form as: J Dev Orig Health Dis. 2023 Jun; 14(3): 325–332. Published online 2023 Feb 16. doi: 10.1017/S2040174423000016
PMCID:
PMC10947591
ArticlePDF–1021K
15.
Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition
Dylan C Sarver, Jean Garcia-Diaz, Muzna Saqib, Ryan C Riddle, G William Wong
eLife. 2024; 12: RP90949. Published online 2024 Jan 19. doi: 10.7554/eLife.90949
PMCID:
PMC10945605
ArticlePDF–11M
16.
Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome
Jianing Niu, Xiaoming Teng, Junyu Zhang
Mol Genet Genomic Med. 2024 Mar; 12(3): e2415. Published online 2024 Mar 15. doi: 10.1002/mgg3.2415
PMCID:
PMC10941593
ArticlePDF–1.6M
17.
Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses
Yaoyao Shangguan, Xingru Ding, Le Ma, Yi-Xin Cai, Shulei Xiang, Xiu-Feng Huang, Yunyan Shen, Hai-Guo Yu, Wenjie Zheng
J Immunol Res. 2024; 2024: 5722548. Published online 2024 Mar 6. doi: 10.1155/2024/5722548
PMCID:
PMC10937081
ArticlePDF–1.4M
18.
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome
Gaowei Wang, Xiaojing Liu, Meiye Wang, Jin Wang, Zhenhua Zhang, Karel Allegaert, Daoqi Mei, Yaodong Zhang, Shuying Luo, Yang Fang, Dongxiao Li, Yongxing Chen, Haiyan Wei
Front Endocrinol (Lausanne) 2024; 15: 1324160. Published online 2024 Feb 28. doi: 10.3389/fendo.2024.1324160
PMCID:
PMC10933015
ArticlePDF–1.2M
19.
Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk
Evgeny Reshetnikov, Maria Churnosova, Yuliya Reshetnikova, Vadim Stepanov, Anna Bocharova, Victoria Serebrova, Ekaterina Trifonova, Irina Ponomarenko, Inna Sorokina, Olga Efremova, Valentina Orlova, Irina Batlutskaya, Marina Ponomarenko, Vladimir Churnosov, Inna Aristova, Alexey Polonikov, Mikhail Churnosov
Int J Mol Sci. 2024 Mar; 25(5): 2647. Published online 2024 Feb 24. doi: 10.3390/ijms25052647
PMCID:
PMC10932237
ArticlePDF–3.4M
20.
TBX3基因突变致Ulnar-Mammary综合征1例家系报道并文献复习
彭 宁, 郭 敏, 蒋 铁建
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28; 47(12): 1769–1774. Chinese. doi: 10.11817/j.issn.1672-7347.2022.220197
PMCID:
PMC10930273
ArticlePDF–992K

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