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Select item 61173621.

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

Abstract Article PDF–922K

Select item 42076042.

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

Abstract Article PDF–3.6M

Select item 58180093.

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

Abstract Article

Select item 38080604.

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

Abstract Article

Select item 109389785.

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

Abstract Article PDF–395K

Select item 110602706.

Successful surgical reconstruction of atypical variant mirror hand anomaly in a 2-year-old female child: a unique case report

Hazem Arab, Maher Almousa, Mahmoud Salemah, Yousef Alsaffaf, Abdulla Alabdullah

Ann Med Surg (Lond) 2024 May; 86(5): 3175–3179. Published online 2024 Apr 4. doi: 10.1097/MS9.0000000000002015

PMCID:: PMC11060270

Abstract Article PDF–497K

Select item 112597447.

Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia

George R. F. Murphy, Eleanor Feneck, James Paget, Branavan Sivakumar, Gill Smith, Malcolm P. O. Logan

J Anat. 2024 Aug; 245(2): 217–230. Published online 2024 Apr 16. doi: 10.1111/joa.14040

PMCID:: PMC11259744

Abstract Article PDF–9.4M

Select item 103315218.

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

Abstract Article PDF–340K

Select item 101627639.

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

Abstract Article

Select item 1015182910.

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

Abstract Article

Select item 952954311.

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

Abstract Article PDF–566K

Select item 728914012.

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

Abstract Article PDF–1.1M

Select item 601397713.

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

Abstract Article PDF–1.7M

Select item 573395914.

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

Abstract Article PDF–1.0M

Select item 838575515.

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

Abstract Article PDF–1.4M

Select item 569686516.

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

Abstract Article PDF–96K

Select item 438108917.

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

Abstract Article PDF–2.6M

Select item 1096378118.

The complete mitochondrial genome of Chibiraga houshuaii (Lepidoptera, Limacodidae) and its phylogenetic implications

Yanpeng Cai, Aihui Yin

Sci Rep. 2024; 14: 7009. Published online 2024 Mar 25. doi: 10.1038/s41598-024-57709-4

PMCID:: PMC10963781

Abstract Article PDF–4.2M

Select item 1099750119.

Determinants of lenalidomide response with or without erythropoiesis-stimulating agents in myelodysplastic syndromes: the HOVON89 trial

A. A. van de Loosdrecht, E. M. P. Cremers, C. Alhan, C. Duetz, F. E. M. in ’t Hout, H. A. Visser-Wisselaar, D. A. Chitu, A. Verbrugge, S. M. Cunha, G. J. Ossenkoppele, J. J. W. M. Janssen, S. K. Klein, E. Vellenga, G. A. Huls, P. Muus, S. M. C. Langemeijer, G. E. de Greef, P. A. W. te Boekhorst, M. H. G. Raaijmakers, M. van Marwijk Kooy, M. C. Legdeur, J. J. Wegman, W. Deenik, O. de Weerdt, T. M. van Maanen-Lamme, P. Jobse, R. J. W. van Kampen, A. Beeker, P. W. Wijermans, B. J. Biemond, B. C. Tanis, J. W. J. van Esser, C. G. Schaar, H. S. Noordzij-Nooteboom, E. M. G. Jacobs, A. O. de Graaf, M. Jongen-Lavrencic, M. J. P. L. Stevens-Kroef, T. M. Westers, J. H. Jansen

Leukemia. 2024; 38(4): 840–850. Published online 2024 Jan 31. doi: 10.1038/s41375-024-02161-6

PMCID:: PMC10997501

Abstract Article PDF–1.5M

Select item 1096355220.

Modelling the Effectiveness of Tepotinib in Comparison to Standard-of-Care Treatments in Patients with Advanced Non-small Cell Lung Cancer (NSCLC) Harbouring METex14 Skipping in the UK

Rachael Batteson, Emma Hook, Hollie Wheat, Anthony J. Hatswell, Helene Vioix, Thomas McLean, Stamatia Theodora Alexopoulos, Shobhit Baijal, Paul K. Paik

Target Oncol. 2024; 19(2): 191–201. Published online 2024 Mar 16. doi: 10.1007/s11523-024-01038-z

PMCID:: PMC10963552

Abstract Article PDF–822K

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