PMC Articles for MedGen (Select 232279) - PMC

Select item 78614191.

Unexpected obesity, rather than tumorigenesis, in a conditional mouse model of mitochondrial complex II deficiency

Fatimah Al Khazal, Seungwoo Kang, Molly Nelson Holte, Doo‐Sup Choi, Ravinder Singh, Patricia Ortega‐Sáenz, José López‐Barneo, L. James Maher, III

FASEB J. 2021 Feb; 35(2): e21227. Published online 2020 Nov 27. doi: 10.1096/fj.202002100R

PMCID:: PMC7861419

Article PDF–1.0M

Select item 47583292.

DIAGNOSIS AND MANAGEMENT OF HEREDITARY PARAGANGLIOMA SYNDROME DUE TO THE F933>X67 SDHD MUTATION

Monica L. Marvin, Carol R. Bradford, James C. Sisson, Stephen B. Gruber

Head Neck. Author manuscript; available in PMC 2016 Feb 18.

Published in final edited form as: Head Neck. 2009 May; 31(5): 689–694. doi: 10.1002/hed.20930

PMCID:: PMC4758329

Article PDF–612K

Select item 33288383.

Head and neck paragangliomas: clinical and molecular genetic classification

Christian Offergeld, Christoph Brase, Svetlana Yaremchuk, Irina Mader, Hans Christian Rischke, Sven Gläsker, Kurt W Schmid, Thorsten Wiech, Simon F Preuss, Carlos Suárez, Tomasz Kopeć, Attila Patocs, Nelson Wohllk, Mahdi Malekpour, Carsten C Boedeker, Hartmut PH Neumann

Clinics (Sao Paulo) 2012 Apr; 67(Suppl 1): 19–28. doi: 10.6061/clinics/2012(Sup01)05

PMCID:: PMC3328838

Article PDF–2.5M

Select item 33141534.

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

Matthew G. Butler, Susan L. Dagenais, José L. Garcia-Perez, Pascal Brouillard, Miikka Vikkula, Peter Strouse, Jeffrey W. Innis, Thomas W. Glover

Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Am J Med Genet A. 2012 Apr; 158A(4): 839–849. Published online 2012 Mar 9. doi: 10.1002/ajmg.a.35229

PMCID:: PMC3314153

Article PDF–2.1M

Select item 17779325.

Hereditary multiple glomus tumours.

S W Beasley, J Mel, C W Chow, P G Jones

Arch Dis Child. 1986 Aug; 61(8): 801–802. doi: 10.1136/adc.61.8.801

PMCID:: PMC1777932

Article PDF–509K

Select item 17125486.

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

B E Baysal, J E Farr, W S Rubinstein, R A Galus, K A Johnson, C E Aston, E N Myers, J T Johnson, R Carrau, S J Kirkpatrick, D Myssiorek, D Singh, S Saha, S M Gollin, G A Evans, M R James, C W Richard, 3rd

Am J Hum Genet. 1997 Jan; 60(1): 121–132.

PMCID:: PMC1712548

Article PDF–1.9M

Select item 10506067.

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).

J C Oosterwijk, J C Jansen, E M van Schothorst, A W Oosterhof, P Devilee, E Bakker, M W Zoeteweij, A G van der Mey

J Med Genet. 1996 May; 33(5): 379–383. doi: 10.1136/jmg.33.5.379

PMCID:: PMC1050606

Article PDF–995K

Select item 5339888.

The Mitochondrial SDHD Gene Is Required for Early Embryogenesis, and Its Partial Deficiency Results in Persistent Carotid Body Glomus Cell Activation with Full Responsiveness to Hypoxia

José I. Piruat, C. Oscar Pintado, Patricia Ortega-Sáenz, Marta Roche, José López-Barneo

Mol Cell Biol. 2004 Dec; 24(24): 10933–10940. doi: 10.1128/MCB.24.24.10933-10940.2004

PMCID:: PMC533988

Article PDF–550K

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