PMC Links for Books (Select 5606778) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 88327492.

Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up

Yuchun Zou, Hanyu Lin, Weijia Chen, Lin Chang, Senxin Cai, You-Guang Lu, Linyu Xu

BMC Oral Health. 2022; 22: 36. Published online 2022 Feb 11. doi: 10.1186/s12903-022-02069-6

PMCID:: PMC8832749

Abstract Article PDF–1.9M

Select item 85736333.

Severe presentation of non-ossifying fibroma of the femur in osteoglophonic dysplasia

Abilash Kumar, Yee Tong Chong, Kamal Jamil, Emilia Rusli

BMJ Case Rep. 2021; 14(11): e245415. Published online 2021 Nov 5. doi: 10.1136/bcr-2021-245415

PMCID:: PMC8573633

Abstract Article PDF–659K

Select item 56873214.

Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E. White, Sheela Nampoothiri

J Pediatr Genet. 2017 Dec; 6(4): 247–251. Published online 2017 May 5. doi: 10.1055/s-0037-1602816

PMCID:: PMC5687321

Abstract Article PDF–302K

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44691067.

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young

Orphanet J Rare Dis. 2015; 10: 71. Published online 2015 Jun 9. doi: 10.1186/s13023-015-0287-9

PMCID:: PMC4469106

Abstract Article PDF–2.1M

Select item 44304668.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A. Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valérie Drouin-Garraud, Hervé Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux, Nelly Pitteloud

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2015 Aug; 17(8): 651–659. Published online 2014 Nov 13. doi: 10.1038/gim.2014.166

PMCID:: PMC4430466

Abstract Article PDF–739K

Select item 42019149.

Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease

AJ Sow, R Ramli, ZA Latiff, S Ichikawa, AK Gray, R Nordin, MN Abd Jabar, SHA Primuharsa Putra, CH Siar, MJ Econs

Clin Genet. Author manuscript; available in PMC 2014 Oct 19.

Published in final edited form as: Clin Genet. 2010 Aug; 78(2): 197–198. Published online 2010 Mar 5. doi: 10.1111/j.1399-0004.2010.01382.x

PMCID:: PMC4201914

Article PDF–265K

Select item 381200710.

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

Audrey Vizeneux, Aude Hilfiger, Jérôme Bouligand, Monique Pouillot, Sylvie Brailly-Tabard, Anu Bashamboo, Ken McElreavey, Raja Brauner

PLoS One. 2013; 8(10): e77827. Published online 2013 Oct 24. doi: 10.1371/journal.pone.0077827

PMCID:: PMC3812007

Abstract Article PDF–450K

Select item 119638211.

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Kenneth E. White, Jose M. Cabral, Siobhan I. Davis, Tonya Fishburn, Wayne E. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil J. McLellan, Carole McKeown, David FitzPatrick, Kai Yu, David M. Ornitz, Michael J. Econs

Am J Hum Genet. 2005 Feb; 76(2): 361–367. Published online 2004 Dec 28. doi: 10.1086/427956

PMCID:: PMC1196382

Abstract Article PDF–296K

Select item 104917612.

Osteoglophonic dwarfism in two generations.

R I Kelley, P F Borns, D Nichols, E H Zackai

J Med Genet. 1983 Dec; 20(6): 436–440. doi: 10.1136/jmg.20.6.436

PMCID:: PMC1049176

Summary Page Browse PDF–1.5M

Select item 101569613.

Osteoglophonic dysplasia.

P Beighton

J Med Genet. 1989 Sep; 26(9): 572–576. doi: 10.1136/jmg.26.9.572

PMCID:: PMC1015696

Summary Page Browse PDF–1.4M

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