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Items: 1 to 20 of 434

1.
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira
Bone. Author manuscript; available in PMC 2023 Sep 26.
Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219
PMCID:
PMC10521254
ArticlePubReaderPDF–1.0MCite
2.
Drosophila Atlastin regulates synaptic vesicle mobilization independent of bone morphogenetic protein signaling
Francisca Bertin, Jorge Jara-Wilde, Benedikt Auer, Andrés Köhler-Solís, Carolina González-Silva, Ulrich Thomas, Jimena Sierralta
Biol Res. 2023; 56: 49. Published online 2023 Sep 14. doi: 10.1186/s40659-023-00462-1
PMCID:
PMC10503011
ArticlePubReaderPDF–11MCite
3.
A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
Xiaodong Yang, Siyu Pu, Bo Xiang, Xueyang Tang, Jing Chen
BMC Pediatr. 2023; 23: 424. Published online 2023 Aug 25. doi: 10.1186/s12887-023-04167-y
PMCID:
PMC10463978
ArticlePubReaderPDF–2.5MCite
4.
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China
Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li
BMC Med Genomics. 2023; 16: 190. Published online 2023 Aug 17. doi: 10.1186/s12920-023-01631-7
PMCID:
PMC10433562
ArticlePubReaderPDF–1.5MCite
5.
Low skeletal muscle mass as an early sign in children with fabry disease
Zhihong Lu, Guoping Huang, Ling Yu, Yan Wang, Langping Gao, Li Lin, Lidan Hu, Jianhua Mao
Orphanet J Rare Dis. 2023; 18: 199. Published online 2023 Jul 21. doi: 10.1186/s13023-023-02806-2
PMCID:
PMC10362620
ArticlePubReaderPDF–3.1MCite
6.
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Ann Clin Transl Neurol. 2023 May; 10(5): 686–695. Published online 2023 Apr 7. doi: 10.1002/acn3.51760
PMCID:
PMC10187720
ArticlePubReaderPDF–542KCite
7.
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
Yazhao Mei, Yunyi Jiang, Zhenlin Zhang, Hao Zhang
BMC Med Genomics. 2023; 16: 47. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01472-4
PMCID:
PMC9990223
ArticlePubReaderPDF–2.9MCite
8.
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort
Burak Altintas, Neelam Giri, Lisa J. McReynolds, Ana Best, Blanche P. Alter
Haematologica. 2023 Jan 1; 108(1): 69–82. Published online 2022 Apr 14. doi: 10.3324/haematol.2021.279981
PMCID:
PMC9827153
ArticlePubReaderPDF–1.5MCite
9.
Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene
Meyer‐Landolt Lukas, Gaspar Harald, Javier Sanz, Mafalda Trippel, Gallati Sabina, Rössler Jochen
Am J Med Genet A. 2022 Nov; 188(11): 3318–3323. Published online 2022 Sep 4. doi: 10.1002/ajmg.a.62961
PMCID:
PMC9826191
ArticlePubReaderPDF–2.0MCite
10.
Specific deletion of Axin1 leads to activation of β-catenin/BMP signaling resulting in fibular hemimelia phenotype in mice
Rong Xie, Dan Yi, Daofu Zeng, Qiang Jie, Qinglin Kang, Zeng Zhang, Zhenlin Zhang, Guozhi Xiao, Lin Chen, Liping Tong, Di Chen
eLife. 2022; 11: e80013. Published online 2022 Dec 21. doi: 10.7554/eLife.80013
PMCID:
PMC9815809
ArticlePubReaderPDF–14MCite
11.
Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms
María Noel Spangenberg, Sofia Grille, Camila Simoes, Nicolás Dell'Oca, Matilde Boada, Cecilia Guillermo, Victor Raggio, Lucía Spangenberg
Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006237. doi: 10.1101/mcs.a006237
PMCID:
PMC9808556
ArticlePubReaderPDF–1.8MCite
12.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Sarah R. Poll, Renan Martin, Elizabeth Wohler, Elizabeth S. Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa Kratz, Mirlene Cernach, Reynaldo Jesus-Garcia, Chad Haldeman-Englert, Yoon Jae Choi, Carol D. Morris, Bernard Cohen, Julie Hoover-Fong, David Valle, Gregg L. Semenza, Nara L. M. Sobreira
PLoS Genet. 2022 Dec; 18(12): e1010504. Published online 2022 Dec 8. doi: 10.1371/journal.pgen.1010504
PMCID:
PMC9767349
ArticlePubReaderPDF–1.4MCite
13.
Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome
Fumihiro Isobe, Masanori Hayashi, Rena Kobayashi, Manami Nakamura, Tomoki Kosho, Jun Takahashi
Genes (Basel) 2022 Nov; 13(11): 1978. Published online 2022 Oct 29. doi: 10.3390/genes13111978
PMCID:
PMC9689626
ArticlePubReaderPDF–2.0MCite
14.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Paul R. Mark, Stephen A. Murray, Tao Yang, Alexandra Eby, Angela Lai, Di Lu, Jacob Zieba, Surender Rajasekaran, Elizabeth A. VanSickle, Linda Z. Rossetti, Lucia Guidugli, Kelly Watkins, Meredith S. Wright, Caleb P. Bupp, Jeremy W. Prokop
Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006169. doi: 10.1101/mcs.a006169
PMCID:
PMC9632358
ArticlePubReaderPDF–16MCite
15.
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy
Paul R. Mark
Am J Med Genet A. 2022 Sep; 188(9): 2834–2849. Published online 2022 Apr 29. doi: 10.1002/ajmg.a.62764
PMCID:
PMC9541200
ArticlePubReaderPDF–12MCite
16.
Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia
Tian Xu, Xiaohui Tao, Zhenlin Zhang, Hua Yue
Front Endocrinol (Lausanne) 2022; 13: 956646. Published online 2022 Aug 19. doi: 10.3389/fendo.2022.956646
PMCID:
PMC9437435
ArticlePubReaderPDF–1.9MCite
17.
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba, Aleksander Jamsheer
Orphanet J Rare Dis. 2022; 17: 325. Published online 2022 Aug 26. doi: 10.1186/s13023-022-02480-w
PMCID:
PMC9419377
ArticlePubReaderPDF–4.1MCite
18.
A Drosophila Su(H) model of Adams-Oliver Syndrome reveals cofactor titration as a mechanism underlying developmental defects
Ellen K. Gagliani, Lisa M. Gutzwiller, Yi Kuang, Yoshinobu Odaka, Phillipp Hoffmeister, Stefanie Hauff, Aleksandra Turkiewicz, Emily Harding-Theobald, Patrick J. Dolph, Tilman Borggrefe, Franz Oswald, Brian Gebelein, Rhett A. Kovall
PLoS Genet. 2022 Aug; 18(8): e1010335. Published online 2022 Aug 11. doi: 10.1371/journal.pgen.1010335
PMCID:
PMC9398005
ArticlePubReaderPDF–3.9MCite
19.
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Francesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, Matteo Piu, Maria A. Maffini, Jole Costanza, Laura Fontana, Carlo Santaniello, Concetta Forino, Donatella Milani, Maria Teresa Bonati, Andrea Secco, Roberto Gastaldi, Carlo Alfieri, Piergiorgio Messa, Monica Miozzo, Maura Arosio, Giovanna Mantovani
J Bone Miner Res. 2022 Mar; 37(3): 465–474. Published online 2022 Jan 17. doi: 10.1002/jbmr.4490
PMCID:
PMC9305952
ArticlePubReaderPDF–3.3MCite
20.
Excessive osteoclast activation by osteoblast paracrine factor RANKL is a major cause of the abnormal long bone phenotype in Apert syndrome model mice
Hye‐Rim Shin, Bong‐Soo Kim, Hyun‐Jung Kim, Heein Yoon, Woo‐Jin Kim, Je‐Yong Choi, Hyun‐Mo Ryoo
J Cell Physiol. 2022 Apr; 237(4): 2155–2168. Published online 2022 Jan 20. doi: 10.1002/jcp.30682
PMCID:
PMC9303724
ArticlePubReaderPDF–13MCite

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