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Items: 1 to 20 of 500

1.
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings
Solveig Schulz, Martin A. Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Eur J Hum Genet. 2018 Sep; 26(9): 1282–1287. Published online 2018 May 14. doi: 10.1038/s41431-018-0128-0
PMCID:
PMC6117362
AbstractArticlePDF–922K
2.
A Gain-of-Function Mutation in Tnni2 Impeded Bone Development through Increasing Hif3a Expression in DA2B Mice
Xiaoquan Zhu, Fengchao Wang, Yanyang Zhao, Peng Yang, Jun Chen, Hanzi Sun, Lei Liu, Wenjun Li, Lin Pan, Yanru Guo, Zhaohui Kou, Yu Zhang, Cheng Zhou, Jiang He, Xue Zhang, Jianxin Li, Weitian Han, Jian Li, Guanghui Liu, Shaorong Gao, Ze Yang
PLoS Genet. 2014 Oct; 10(10): e1004589. Published online 2014 Oct 23. doi: 10.1371/journal.pgen.1004589
PMCID:
PMC4207604
AbstractArticlePDF–3.6M
3.
The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse
J. Martin Collinson, Nils O. Lindström, Carlos Neves, Karen Wallace, Caroline Meharg, Rebecca H. Charles, Zoe K. Ross, Amy M. Fraser, Ivan Mbogo, Kadri Oras, Masaru Nakamoto, Simon Barker, Suzanne Duce, Zosia Miedzybrodzka, Neil Vargesson
Development. 2018 Feb 1; 145(3): dev160093. doi: 10.1242/dev.160093
PMCID:
PMC5818009
AbstractArticle
4.
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association
Pricila Bernardi, Carla Graziadio, Rafael Fabiano Machado Rosa, Juliana Nunes Pfeil, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Sao Paulo Med J. 2010; 128(2): 99–101. Published online 2010 Mar 4. doi: 10.1590/S1516-31802010000200011
PMCID:
PMC10938978
AbstractArticlePDF–395K
5.
Evaluation of Fetal and Maternal Outcomes in Chorion Villus Sampling (CVS)
Minoo Movahedi, Farinaz Farahbod, Elahe Zarean, Maryam Hajihashemi, Fedyeh Haghollahi, Mehri Farahmand
Adv Biomed Res. 2023; 12: 133. Published online 2023 May 19. doi: 10.4103/abr.abr_229_22
PMCID:
PMC10331521
AbstractArticlePDF–340K
6.
Focal Dermal Hypoplasia: Case Series
Maria Mansouri, Fatima Zohra Bouzid, Said. Amal, Oufae Hocar, Nissrine Aboussair
Indian J Dermatol. 2023 Jan-Feb; 68(1): 122. doi: 10.4103/ijd.ijd_508_22
PMCID:
PMC10162763
AbstractArticle
7.
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Dis Model Mech. 2023 Apr 1; 16(4): dmm049977. Published online 2023 Apr 21. doi: 10.1242/dmm.049977
PMCID:
PMC10151829
AbstractArticle
8.
A case of acheiria
Ali Al-Smair, Abdel Rahman M. Jaber, Mohammad H. Abu-Suailiek, Taghleb Al-Awad, Ahmad Saadeh
Radiol Case Rep. 2022 Dec; 17(12): 4710–4712. Published online 2022 Sep 30. doi: 10.1016/j.radcr.2022.09.023
PMCID:
PMC9529543
AbstractArticlePDF–566K
9.
Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang
Front Genet. 2021; 12: 705973. Published online 2021 Aug 11. doi: 10.3389/fgene.2021.705973
PMCID:
PMC8385755
AbstractArticlePDF–1.4M
10.
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors
Leendert H.J. Looijenga, Theodorus H. Van der Kwast, David Grignon, Lars Egevad, Glen Kristiansen, Chia-Sui Kao, Muhammad T. Idrees
Am J Surg Pathol. 2020 Jul; 44(7): e66–e79. Published online 2020 Mar 20. doi: 10.1097/PAS.0000000000001465
PMCID:
PMC7289140
AbstractArticlePDF–1.1M
11.
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation
Anna Zlotina, Artem Kiselev, Alexey Sergushichev, Elena Parmon, Anna Kostareva
Front Genet. 2018; 9: 209. Published online 2018 Jun 15. doi: 10.3389/fgene.2018.00209
PMCID:
PMC6013977
AbstractArticlePDF–1.7M
12.
Prenatal Diagnosis of Thoracoschisis and Review of Literature
Hasaruddin R. Hanafi, Zahar A. Zakaria
Case Rep Obstet Gynecol. 2017; 2017: 9821213. Published online 2017 Nov 16. doi: 10.1155/2017/9821213
PMCID:
PMC5733959
AbstractArticlePDF–1.0M
13.
Unexpected findings at diagnostic laparoscopy: caecal incarceration with concurrent appendicitis in a patient with bilateral broad ligament defects
S Onida, K Lynes, BA Ozdemir, PA Whitehouse
Ann R Coll Surg Engl. 2010 Sep; 92(6): e19–e20. Published online 2010 Sep. doi: 10.1308/147870810X12699662981159
PMCID:
PMC5696865
AbstractArticlePDF–96K
14.
Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome
Owen J. Arthurs, Lyn S. Chitty, Lydia Judge-Kronis, Neil J. Sebire
Pediatr Radiol. 2015; 45(4): 556–561. Published online 2014 Sep 5. doi: 10.1007/s00247-014-3133-7
PMCID:
PMC4381089
AbstractArticlePDF–2.6M
15.
Elementary school enrolment and its determinants among children with cerebral palsy in Thiruvananthapuram district, Kerala, India
Thekkumkara Surendran Nair Anish, Reshmi Ramachandran, P Sivaram, Seetha Mohandas, Archana Sasidharan, Pallipurathu Reghunathan Nair Sreelakshmi
J Neurosci Rural Pract. 2013 Aug; 4(Suppl 1): S40–S44. doi: 10.4103/0976-3147.116446
PMCID:
PMC3808060
AbstractArticle
16.
Identifying candidate genes and biological pathways in muscle development through multi-tissue transcriptome comparisons between male and female geese
Yunzhou Yang, Cui Wang, Shufang Chen, Yi Liu, Huiyan Jia, Huiying Wang, Daqian He
Sci Rep. 2024; 14: 16474. Published online 2024 Jul 16. doi: 10.1038/s41598-024-67560-2
PMCID:
PMC11252291
AbstractArticlePDF–2.4M
17.
Phenotypic characterization and gene mapping of hybrid necrosis in Triticum durum–Haynaldia villosa amphiploids
Yangqi Liu, Jinhong Liu, Zhenpu Huang, Kaiwen Fan, Xinshuo Guo, Liping Xing, Aizhong Cao
Theor Appl Genet. 2024; 137(8): 185. Published online 2024 Jul 15. doi: 10.1007/s00122-024-04691-0
PMCID:
PMC11249415
AbstractArticlePDF–2.6M
18.
Mapping of Aegilops speltoides derived leaf rust and stripe rust resistance genes using 35K SNP array
Balihar Kaur, Bukke Kutti Bai, Guriqbal Singh Dhillon, Jaspal Kaur, Achla Sharma, Puja Srivastava, Parveen Chhuneja, Satinder Kaur
BMC Genom Data. 2024; 25: 69. Published online 2024 Jul 15. doi: 10.1186/s12863-024-01247-5
PMCID:
PMC11247808
AbstractArticlePDF–1.7M
19.
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome
Shruti S. Tophkhane, Katherine Fu, Esther M. Verheyen, Joy M. Richman
Dis Model Mech. 2024 Jun 1; 17(6): dmm050584. Published online 2024 Jul 5. doi: 10.1242/dmm.050584
PMCID:
PMC11247504
AbstractArticle
20.
Impact of RAAS Receptors and Membrane-Bound Transporter System in the Left Ventricle during the Long-Term Control of Hypertension
Berwin Singh Swami Vetha, Rachel Byrum, DaQuan Mebane, Laxmansa C. Katwa, Azeez Aileru
Int J Mol Sci. 2024 Jul; 25(13): 6997. Published online 2024 Jun 26. doi: 10.3390/ijms25136997
PMCID:
PMC11241669
AbstractArticlePDF–2.5M

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