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Items: 1 to 20 of 3952

1.
The use of infrared thermography for non-invasive detection of bleeding and musculoskeletal abnormalities in patients with hemophilia: an observational study
Ryohei Kawasaki, Asuka Sakata, Chihiro Hosoda, Suguru Harada, Tetsuhiro Soeda, Yukiko Nishida, Naoki Matsumoto, Kohei Tatsumi, Keiji Nogami, Yasushi Yoshimura, Midori Shima
Thromb J. 2023; 21: 70. Published online 2023 Jun 28. doi: 10.1186/s12959-023-00511-5
PMCID:
PMC10303282
AbstractArticlePDF–1.1M
2.
TeamMate: A Longitudinal Study of New Zealand Working Farm Dogs. II. Occurrence of Musculoskeletal Abnormalities
Katja E. Isaksen, Lori Linney, Helen Williamson, Nick J. Cave, Elizabeth J. Norman, Naomi Cogger
Front Vet Sci. 2020; 7: 624. Published online 2020 Oct 16. doi: 10.3389/fvets.2020.00624
PMCID:
PMC7596175
AbstractArticlePDF–826K
3.
A Pilot Study of Musculoskeletal Abnormalities in Patients in Recovery from a Unilateral Rupture-Repaired Achilles Tendon
Dong Sun, Gusztáv Fekete, Julien S. Baker, Qichang Mei, Bíró István, Yan Zhang, Yaodong Gu
Int J Environ Res Public Health. 2020 Jul; 17(13): 4642. Published online 2020 Jun 28. doi: 10.3390/ijerph17134642
PMCID:
PMC7369810
AbstractArticlePDF–4.1M
4.
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Charlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, Sofie Symoens, Fransiska Malfait, Daria Larionova, Pascal Simoens, Manuel Dierick, Luc Van Hoorebeke, Anne De Paepe, Ronald Y Kwon, MaryAnn Weis, David R Eyre, Andy Willaert, Paul J Coucke
J Bone Miner Res. Author manuscript; available in PMC 2017 Mar 24.
Published in final edited form as: J Bone Miner Res. 2016 Nov; 31(11): 1930–1942. Published online 2016 Oct 24. doi: 10.1002/jbmr.2977
PMCID:
PMC5364950
AbstractArticlePDF–3.2M
5.
Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS
Mercedes O Chan, Ethan S Sen, Elizabeth Hardy, Pauline Hensman, Edmond Wraith, Simon Jones, Tim Rapley, Helen E Foster
Pediatr Rheumatol Online J. 2014; 12: 32. Published online 2014 Aug 1. doi: 10.1186/1546-0096-12-32
PMCID:
PMC4126068
AbstractArticlePDF–830K
6.
The musculoskeletal abnormalities of the Similaun Iceman (“ÖTZI”): clues to chronic pain and possible treatments
Walter F. Kean, Shannon Tocchio, Mary Kean, K. D. Rainsford
Inflammopharmacology. 2013; 21(1): 11–20. Published online 2012 Oct 25. doi: 10.1007/s10787-012-0153-5
PMCID:
PMC3560943
AbstractArticlePDF–933K
7.
Upper limb musculoskeletal abnormalities in type 2 diabetic patients in low socioeconomic strata in Pakistan
Saera Suhail Kidwai, Lubna Wahid, Shaista A Siddiqi, Rashid M khan, Ishaq Ghauri, Ishaque Sheikh
BMC Res Notes. 2013; 6: 16. Published online 2013 Jan 17. doi: 10.1186/1756-0500-6-16
PMCID:
PMC3556491
AbstractArticlePDF–173K
8.
A family with multiple musculoskeletal abnormalities.
K E Barber, P J Gow, K M Mayo
Ann Rheum Dis. 1984 Apr; 43(2): 275–278. doi: 10.1136/ard.43.2.275
PMCID:
PMC1001482
SummaryPage BrowsePDF–1.2M
9.
Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
William Rojas García, Henry Tovar Cortes, Andrés Florez Romero
Arch Endocrinol Metab. 2019 Jul-Aug; 63(4): 385–394. Published online 2019 Jul 11. doi: 10.20945/2359-3997000000150
PMCID:
PMC10528647
AbstractArticlePDF–858K
10.
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias
Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik
Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003
PMCID:
PMC10524810
AbstractArticlePDF–1.8M
11.
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient
Shuo Tang, Jieyu You, Li Liu, Hongjuan Ouyang, Na Jiang, Jiaqi Duan, Canlin Li, Yanhong Luo, Wenting Zhang, Meizheng Zhan, Chenxi Liu, Gui‐Zhen Lyu, Victor Wei Zhang, Hongmei Zhao
Mol Genet Genomic Med. 2023 Aug; 11(8): e2188. Published online 2023 Jul 24. doi: 10.1002/mgg3.2188
PMCID:
PMC10422072
AbstractArticlePDF–882K
12.
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy
Kelsey Paulhus, Edward Glasscock
Int J Mol Sci. 2023 May; 24(10): 8826. Published online 2023 May 16. doi: 10.3390/ijms24108826
PMCID:
PMC10219020
AbstractArticlePDF–870K
13.
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
Miya St John, Olivia van Reyk, David A. Koolen, Bert B. A. de Vries, David J. Amor, Angela T. Morgan
Eur J Hum Genet. 2023 May; 31(5): 531–540. Published online 2022 Dec 19. doi: 10.1038/s41431-022-01230-7
PMCID:
PMC10172335
AbstractArticlePDF–1.2M
14.
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
John J. DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G. Khan, Elizabeth R. H. Rizza, James C. Reynolds, Scott M. Paul, Suvimol C. Hill, Kenneth H. Kraemer
Am J Med Genet A. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3448–3462. Published online 2022 Sep 14. doi: 10.1002/ajmg.a.62962
PMCID:
PMC9669218
AbstractArticlePDF–1.6M
15.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Undiagnosed Diseases Network , Telethon Undiagnosed Diseases Program , Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata
Brain. 2022 Sep; 145(9): 3308–3327. Published online 2022 Jul 4. doi: 10.1093/brain/awac106
PMCID:
PMC9473360
AbstractArticlePDF–2.2M
16.
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
Marianna Farnè, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni
Am J Med Genet A. 2022 Feb; 188(2): 692–707. Published online 2021 Oct 19. doi: 10.1002/ajmg.a.62536
PMCID:
PMC9297928
AbstractArticlePDF–2.1M
17.
Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
Sara Bech, Annemette Løkkegaard, Troels T. Nielsen, Anne Nørremølle, Sabine Grønborg, Lis Hasholt, Gudrun K. Steffensen, Gabor Graehn, Jess H. Olesen, Niels Tommerup, Yuan Mang, Mads Bak, Jørgen E. Nielsen, Hans Eiberg, Lena E. Hjermind
Mov Disord. 2020 Dec; 35(12): 2343–2347. Published online 2020 Sep 19. doi: 10.1002/mds.28244
PMCID:
PMC8151874
AbstractArticlePDF–505K
18.
A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
Ya Tan, Ling Duan, Kai Yang, Qian Liu, Jing Wang, Zhe Dong, Zhi Li, Yiwen He, Yousheng Yan, Li Lin
J Clin Lab Anal. 2020 Aug; 34(8): e23326. Published online 2020 Apr 14. doi: 10.1002/jcla.23326
PMCID:
PMC7439338
AbstractArticlePDF–1.4M
19.
P0-Related Protein Accelerates Human Mesenchymal Stromal Cell Migration by Modulating VLA-5 Interactions with Fibronectin
Maria G. Roubelakis, Grigorios Tsaknakis, Feng-Juan Lyu, Ourania Trohatou, Andrew C. W. Zannettino, Suzanne M. Watt
Cells. 2020 May; 9(5): 1100. Published online 2020 Apr 29. doi: 10.3390/cells9051100
PMCID:
PMC7290418
AbstractArticlePDF–8.2M
20.
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities
Masashi Ueda, Tohru Matsuki, Masahide Fukada, Shima Eda, Akie Toya, Akio Iio, Hidenori Tabata, Atsuo Nakayama
Mol Brain. 2020; 13: 80. Published online 2020 May 24. doi: 10.1186/s13041-020-00622-4
PMCID:
PMC7245844
AbstractArticlePDF–3.2M

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