PMC Articles for MedGen (Select 340849) - PMC

Lidiia Zhytnik, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks, Aare Märtson, Alessandra Maugeri, Katre Maasalu, Dimitra Micha

Genes (Basel) 2022 Mar; 13(3): 407. Published online 2022 Feb 24. doi: 10.3390/genes13030407

PMCID:: PMC8950175

Abstract Article PDF–1.9M

Select item 60761884.

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report

Heng Xie, Li Xue, Wei Hua, Bangsheng Jia, Liang Zhang, Li Li

Medicine (Baltimore) 2018 Jul; 97(28): e11283. Published online 2018 Jul 13. doi: 10.1097/MD.0000000000011283

PMCID:: PMC6076188

Abstract Article PDF–880K

Select item 31793445.

Loss of Skeletal Mineralization by the Simultaneous Ablation of PHOSPHO1 and Alkaline Phosphatase Function: A Unified Model of the Mechanisms of Initiation of Skeletal Calcification

Manisha C Yadav, Ana Maria Sper Simão, Sonoko Narisawa, Carmen Huesa, Marc D McKee, Colin Farquharson, José Luis Millán

J Bone Miner Res. 2011 Feb; 26(2): 286–297. Published online 2010 Aug 3. doi: 10.1002/jbmr.195

PMCID:: PMC3179344

Abstract Article PDF–3.8M

Select item 64748476.

Nuclear FGFR2 regulates musculoskeletal integration within the developing limb

Joanna E. Salva, Ryan R. Roberts, Taylor S. Stucky, Amy E. Merrill

Dev Dyn. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Dev Dyn. 2019 Mar; 248(3): 233–246. Published online 2019 Jan 28. doi: 10.1002/dvdy.9

PMCID:: PMC6474847

Abstract Article PDF–4.5M

Select item 48623977.

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Débora Romeo Bertola, Rachel S. Honjo, Wagner A.R. Baratela

Mol Syndromol. 2016 Apr; 7(1): 12–18. Published online 2016 Mar 16. doi: 10.1159/000444729

PMCID:: PMC4862397

Abstract Article PDF–182K

Select item 49603238.

Maxillofacial Changes in Melnick-Needles Syndrome

Leilane Larissa Albuquerque do Nascimento, Monica da Consolação Canuto Salgueiro, Mariana Quintela, Victor Perez Teixeira, Ana Carolina Costa Mota, Camila Haddad Leal de Godoy, Sandra Kalil Bussadori

Case Rep Dent. 2016; 2016: 9685429. Published online 2016 Jul 12. doi: 10.1155/2016/9685429

PMCID:: PMC4960323

Abstract Article PDF–1.0M

Select item 91921879.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Maha Alotaibi, Deema Aldhubaiban, Ahmed Alasmari, Leena Alotaibi

Glob Med Genet. 2022 Jun; 9(2): 175–178. Published online 2021 Dec 17. doi: 10.1055/s-0041-1740468

PMCID:: PMC9192187

Abstract Article PDF–1009K

Select item 465260710.

Phospho1 deficiency transiently modifies bone architecture yet produces consistent modification in osteocyte differentiation and vascular porosity with ageing

B. Javaheri, A. Carriero, K.A. Staines, Y.-M. Chang, D.A. Houston, K.J. Oldknow, J.L. Millan, Bassir N. Kazeruni, P. Salmon, S. Shefelbine, C. Farquharson, A.A. Pitsillides

Bone. 2015 Dec; 81: 277–291. doi: 10.1016/j.bone.2015.07.035

PMCID:: PMC4652607

Abstract Article

Select item 421904511.

The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM)

Frederic Shapiro, Lauren Barone, Andrew Johnson, Evelyn Flynn

BMC Musculoskelet Disord. 2014; 15: 347. Published online 2014 Oct 15. doi: 10.1186/1471-2474-15-347

PMCID:: PMC4219045

Abstract Article PDF–2.5M

Select item 715998012.

Perinatal Hypophosphatasia in a Premature Infant

Deepika Sankaran, Praveen K. Chandrasekharan, Munmun Rawat

AJP Rep. 2020 Apr; 10(2): e139–e147. Published online 2020 Apr 15. doi: 10.1055/s-0040-1709512

PMCID:: PMC7159980

Abstract Article PDF–543K

Select item 305801913.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta

Orphanet J Rare Dis. 2011; 6: 7. Published online 2011 Feb 28. doi: 10.1186/1750-1172-6-7

PMCID:: PMC3058019

Abstract Article PDF–534K

Select item 357629414.

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 353897815.

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation

Sang Sun Kang, Sung Hwa Shin, Chung-Kyoon Auh, Jaesun Chun

Exp Mol Med. 2012 Dec 17; 44(12): 707–722. Published online 2012 Nov 8. doi: 10.3858/emm.2012.44.12.080

PMCID:: PMC3538978

Abstract Article PDF–770K

Select item 529123516.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, University of Washington Center for Mendelian Genomics Consortium, Deborah Krakow, Daniel H. Cohn

Hum Mol Genet. 2016 Sep 15; 25(18): 4012–4020. Published online 2016 Jul 27. doi: 10.1093/hmg/ddw241

PMCID:: PMC5291235

Abstract Article PDF–814K

Select item 256785617.

Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement

David A. Stevenson, John C. Carey, Stephen P. Coburn, Karen L. Ericson, Janice L. B. Byrne, Steven Mumm, Michael P. Whyte

J Clin Endocrinol Metab. 2008 Sep; 93(9): 3443–3448. Published online 2008 Jun 17. doi: 10.1210/jc.2008-0318

PMCID:: PMC2567856

Abstract Article

Select item 154609218.

Infantile cortical hyperostosis.

L Frána, M Sekanina

Arch Dis Child. 1976 Aug; 51(8): 589–595. doi: 10.1136/adc.51.8.589

PMCID:: PMC1546092

Summary Page Browse PDF–1.4M

Select item 118192719.

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean-Luc Taupin, Jean-François Moreau, Andrea Superti-Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire

Am J Hum Genet. 2004 Feb; 74(2): 298–305. Published online 2004 Jan 21. doi: 10.1086/381715

PMCID:: PMC1181927

Abstract Article PDF–377K

Select item 105119120.

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

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