Affiliation: Mayo Clinic
- Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto
Provincial Medical Genetics Program, Department of Medical Genetics, Children s and Women s Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada
Orphanet J Rare Dis 7:70. 2012..However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown...
- Molecular genetic testing in endocrinology - a practical guideSalman Kirmani
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Endocr Pract 18:85-9. 2012..To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation...
- Sclerostin levels during growth in childrenS Kirmani
Endocrine Research Unit, Guggenheim 7 11, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Osteoporos Int 23:1123-30. 2012..Serum sclerostin levels are associated with cortical porosity, suggesting that changes in sclerostin production during growth may play a role in defining cortical structure...
- Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndromeSalman Kirmani
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 152:1016-9. 2010..Osteopenia or osteoporosis may become increasingly important issues as earlier detection and treatment of the vascular complications of LDS improves life expectancy in these patients...
- Relationship of testosterone and osteocalcin levels during growthSalman Kirmani
College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
J Bone Miner Res 26:2212-6. 2011..During this phase, OCN may further stimulate testicular T production, which, in turn, contributes to an increase in bone size...
- A distal forearm fracture in childhood is associated with an increased risk for future fragility fractures in adult men, but not womenShreyasee Amin
Division of Rheumatology, Department of Internal Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA
J Bone Miner Res 28:1751-9. 2013..Until then, men should be asked about a childhood distal forearm fracture and, if so, warrant further screening and counseling on measures to optimize bone health and prevent fractures. ..
- Treatment-resistant meningitis leading to the diagnosis of Currarino syndrome: a case reportAutumn S Kiefer
Mayo School of Graduate Medical Education, Rochester, MN, USA
Pediatr Infect Dis J 28:547-9. 2009..Subsequently, a rectothecal fistula and sacral abnormalities were found, leading to the diagnosis of Currarino syndrome. Parameningeal foci should be considered in treatment-resistant meningitis...
- Bone structure at the distal radius during adolescent growthSalman Kirmani
College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
J Bone Miner Res 24:1033-42. 2009..Whether these deficits are more severe in children who sustain forearm fractures or persist into later life warrants further study...
- Chronic tibial nonunion in a Rothmund-Thomson syndrome patientAaron M Carlson
Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Am J Med Genet A 158:2250-3. 2012..We conclude that screening for bone health and supplementation with calcium and vitamin D may be warranted in RTS patients with a history of fractures and osteosarcoma treatment...
- Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standardJennelle C Hodge
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 158:669-73. 2012..However, our case demonstrates that the biology of PKS precludes the exclusive use of array CGH on blood for diagnosis. A tissue sample should continue to be the diagnostic gold standard for PKS...
- Vitamin A deficiency in an infant with PAGOD syndromeRalitza Gavrilova
Department of Medical Genetics, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA
Am J Med Genet A 149:2241-7. 2009....