PMC Articles for MedGen (Select 140930) - PMC - NCBI

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Items: 7

Select item 98517481.

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia

Hum Mol Genet. 2023 Feb 1; 32(3): 473–488. Published online 2022 Aug 26. doi: 10.1093/hmg/ddac213

PMCID:: PMC9851748

Abstract Article PDF–2.7M

Select item 55929822.

Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations

Waleed Kishta, Fahad H. Abduljabbar, Marie Gdalevitch, Frank Rauch, Reggie Hamdy, François Fassier

J Pediatr Orthop. 2017 Oct; 37(7): 479–483. Published online 2017 Sep 18. doi: 10.1097/BPO.0000000000000644

PMCID:: PMC5592982

Abstract Article PDF–143K

Select item 41899673.

Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK

Michael P. Whyte, Cristina Tau, William H. McAlister, Xiafang Zhang, Deborah V. Novack, Virginia Preliasco, Eduardo Santini-Araujo, Steven Mumm

Bone. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Bone. 2014 Nov; 68: 153–161. Published online 2014 Jul 23. doi: 10.1016/j.bone.2014.07.019

PMCID:: PMC4189967

Abstract Article PDF–2.4M

Select item 35762944.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska

BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13

PMCID:: PMC3576294

Abstract Article PDF–966K

Select item 10511915.

Kyphomelic dysplasia in two sib fetuses.

C P Chen, S R Chern, S L Shih, C Y Chuang, F Y Huang

J Med Genet. 1998 Jan; 35(1): 65–69. doi: 10.1136/jmg.35.1.65

PMCID:: PMC1051191

Summary Page Browse PDF–1.8M

Select item 10170346.

Kyphomelic dysplasia: the first 10 cases.

P D Turnpenny, R A Dakwar, F N Boulos

J Med Genet. 1990 Apr; 27(4): 269–272. doi: 10.1136/jmg.27.4.269

PMCID:: PMC1017034

Summary Page Browse PDF–738K

Select item 10156517.

Kyphomelic dysplasia.

I K Temple, E M Thompson, C M Hall, G Bridgeman, M E Pembrey

J Med Genet. 1989 Jul; 26(7): 457–461. doi: 10.1136/jmg.26.7.457

PMCID:: PMC1015651

Summary Page Browse PDF–1.2M

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