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Advocate Center for Pediatric Research
Genetics

July 2011

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L

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May 2011

Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome
Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT

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April 2011

Joint hypermobility syndrome: a common clinical disorder associated with migraine headache in women
Bendik EM, Tinkle BT, Al-shuik E, Levin L, Martin A, Thaler R, Atzinger CL, Rueger J, Martin VT

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March 2011

Variable expression of neurofibromatosis 1 in monozygotic twins
Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK

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February 2011

Craniometaphyseal dysplasia-induced hearing loss
Sun GH, Samy RN, Tinkle BT, Cornelius RS, Brown DK

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March 2010

Fetal MR imaging of Kniest dysplasia
Yazici Z, Kline-Fath BM, Laor T, Tinkle BT

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October 2009

Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy
Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N

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August 2009

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol
Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ

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