Leslie ND, Tinkle BT, Strauss AW, Shooner K, Zhang K (2011). “Very long chain acylcoenzyme A dehydrogenase deficiency” in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Atzinger C, Meyer RA, Khoury PR, Gao Z, Tinkle BT (2011). Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr 158:826-30.
Rieley M, Stevenson D, Viskochil D, Tinkle BT, Martin L, Schorry EK (2011). Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet 155A:478-85.
Bendik E, Tinkle BT, Al-shuik E, Levin L, Martin A, Thaler R, Atzinger CL, Rueger J, Martin VT (2011). Joint hypermobility syndrome: a common clinical disorder associated with migraine headache in women. Cephalalgia 31:603-13.
Tinkle BT, Leslie N (2010). “Glycogen storage disease type II (Pompe disease)” in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Sun GH, Samy RN, Tinkle BT, Cornelius RS, Brown DK (2010). Craniometaphyseal dysplasia-induced hearing loss. Otol Neurot 32:e9-10.
Yazici Z, Kline-Fath BM, Laor T, Tinkle BT (2010). Fetal MR imaging of Kniest dysplasia. Pediatr Radiol 40:348-52.
The diagnosis of a fetal skeletal dysplasia is more often incorrect. The Skeletal Dysplasia Center in collaboration with the Fetal Care Center is using the most advance imaging techniques (fetal MRI) in conjunction with ultrasound imaging and growth characteristics to better delineate such dysplasias in utero as evident in our patient in this case report.
Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D (2009). The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A 149A: 2368-70.
Diagnosis of a disorder based on subjective (exam only) clinical grounds is often poorly reproduced but made worse when the diagnostic criteria are different due to age, gender, athletic training, etc. Spearheading this international collaborative effort, experts in the field of connective tissue disorders agree to apply more simplistic criteria to better manage patients rather than focus on diagnostic labels.
Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N (2009). Sleeprelated respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 155:510-5.
Although a known life-threatening complication of achondroplasia, the AAP guidelines in the timing, mode of imaging, and interpretation of the test results are poorly delineated. A series of patients were evaluated under a clinical protocol and the sleep study results were carefully analyzed to reveal a unique pattern that will likely help in the determination of the severity of central sleep apnea in this patient population.
Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ (2009). Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet 149A:1691-7.
Leslie ND, Tinkle BT, Strauss AW, Shooner K, Zhang K (2009). “Very long chain acylcoenzyme A dehydrogenase deficiency” in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Mattheis PJ, Hickey F, Tinkle BT, Hopkin R (2008). Prenatal diagnosis: beyond decisions about termination. J Pediatr 153:728-9.
Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA (2007). Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr 19:628-35.
Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB (2007). Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis 2:342-6.
Tinkle BT, Leslie N (2007). “Glycogen storage disease type 2” in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Tinkle BT, Miller E, Schorry EK (2007). Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. Hum Genet 119:677.
Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM (2005). Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet 139A:204-11.
Hemimegalencepahly is a life-threatening disorder often accompanied by untractable seizures. Through careful review, it became apparent that the natural history of this condition relates to the underlying cause (idiopathic v. syndromic). This observation aided in the prognosis of this disorder thereby affecting management including hemispherectomy.
Tinkle BT, Wenstrup RJ (2005). A genetic approach to fracture epidemiology in childhood.Am J Med Genet C Semin Med Genet 139C:38-54.
Multiple fractures particularly in young children are concerning for trauma, and where unexplained, for abuse. A multitude of genetic conditions can cause bone fragility but helpful clinical and/or biochemical delineation in the context of multiple fractures has not been described previously.
Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ (2003). Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet 119A:66-70.
Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ (2003). Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. Am J Med Genet 118A:90-5.
Tinkle BT, Ueda H, Ngo L, Luciw PA, Shaw K, Rosen CA, Jay G (1997). Transgenic dissection of HIV genes involved in lymphoid depletion. J Clin Invest 100:32-9.
Tinkle BT, Ngo L, Luciw PA, Maciag T, Jay G (1997). Human immunodeficiency virusassociated vasculopathy in transgenic mice. J Virol 71:4809-14.
Han DK, Haudenschild CC, Hong MK, Tinkle BT, Leon MB, Liau G (1995). Evidence for apoptosis in human atherogenesis and in a rat vascular injury model. Am J Pathol 147:267-77.
Tinkle BT, Ueda H, Jay G (1995). The pathogenic role of human immunodeficiency virus accessory genes in transgenic mice. Curr Top Microbiol Immunol 193:133-56.
LaFerla FM, Tinkle BT, Bieberich CJ, Haudenschild CC, Jay G (1995). The Alzheimer’s Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice. Nat Genet 9:21-30.
Bieberich CJ, King CM, Tinkle BT, Jay G (1993). A transgenic model of transactivation by the Tax protein of HTLV-I. Virology 196:309-18.