PMC Articles for MedGen (Select 374194) - PMC

Select item 100423141.

Lynda E. Polgreen, Erik A. Imel, Michael J. Econs

Bone. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Bone. 2023 May; 170: 116723. Published online 2023 Feb 28. doi: 10.1016/j.bone.2023.116723

PMCID:: PMC10042314

Abstract Article PDF–431K

Select item 69375222.

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Carlos R. Ferreira, Debra S. Regier, Robin Yoon, Kristen S. Pan, Jean M. Johnston, Sandra Yang, Jürgen W. Spranger, Cynthia J. Tifft

Bone. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Bone. 2020 Feb; 131: 115142. Published online 2019 Nov 6. doi: 10.1016/j.bone.2019.115142

PMCID:: PMC6937522

Abstract Article PDF–843K

Select item 52373883.

SPONASTRIME Dysplasia: Report of an 11-Year-Old Boy and Review of the Literature

Heather A. Cooper, James Crowe, Merlin G. Butler

Am J Med Genet. Author manuscript; available in PMC 2017 Jan 14.

Published in final edited form as: Am J Med Genet. 2000 May 1; 92(1): 33–39. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u

PMCID:: PMC5237388

Abstract Article PDF–1.0M

Select item 28206834.

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J. Nowak, Susan L. Christian, Lorenzo Pavone, William B. Dobyns

Eur J Pediatr. 2010; 169(4): 475–481. Published online 2009 Oct 17. doi: 10.1007/s00431-009-1061-6

PMCID:: PMC2820683

Abstract Article PDF–203K

Select item 21330865.

Collagen II Is Essential for the Removal of the Notochord and the Formation of Intervertebral Discs

Attila Aszódi, Danny Chan, Ernst Hunziker, John F. Bateman, Reinhard Fässler

J Cell Biol. 1998 Nov 30; 143(5): 1399–1412. doi: 10.1083/jcb.143.5.1399

PMCID:: PMC2133086

Abstract Article PDF–1.7M

Select item 17354756.

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

P Turnpenny, N Whittock, J Duncan, S Dunwoodie, K Kusumi, S Ellard

J Med Genet. 2003 May; 40(5): 333–339. doi: 10.1136/jmg.40.5.333

PMCID:: PMC1735475

Summary PDF–240K

Select item 16829787.

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

C Sher, R Ramesar, R Martell, I Learmonth, P Tsipouras, P Beighton

Am J Hum Genet. 1991 Mar; 48(3): 518–524.

PMCID:: PMC1682978

Summary Page Browse PDF–1.2M

Select item 10516118.

Congenital spinal deformity in a three generation family.

I K Temple, T G Thomas, M Baraitser

J Med Genet. 1988 Dec; 25(12): 831–834. doi: 10.1136/jmg.25.12.831

PMCID:: PMC1051611

Summary Page Browse PDF–1.1M

Select item 222729.

The mouse bagpipe gene controls development of axial skeleton, skull, and spleen

Laura A. Lettice, Lorna A. Purdie, Geoffrey J. Carlson, Fiona Kilanowski, Julia Dorin, Robert E. Hill

Proc Natl Acad Sci U S A. 1999 Aug 17; 96(17): 9695–9700. doi: 10.1073/pnas.96.17.9695

PMCID:: PMC22272

Abstract Article PDF–853K

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