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Items: 31

1.

Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders.

Tinkle BT, Levy HP.

Med Clin North Am. 2019 Nov;103(6):1021-1033. doi: 10.1016/j.mcna.2019.08.002. Review.

PMID:
31582002
2.

Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome.

Tran ST, Jagpal A, Koven ML, Turek CE, Golden JS, Tinkle BT.

J Child Health Care. 2019 Aug 1:1367493519867174. doi: 10.1177/1367493519867174. [Epub ahead of print]

PMID:
31370685
3.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

4.

Oral and mandibular manifestations in the Ehlers-Danlos syndromes.

Mitakides J, Tinkle BT.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):220-225. doi: 10.1002/ajmg.c.31541. Epub 2017 Feb 13. Review.

PMID:
28192626
5.

Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.

Gaines R, Tinkle BT, Halandras PM, Al-Nouri O, Crisostomo P, Cho JS.

Ann Vasc Surg. 2015 Apr;29(3):595.e11-4. doi: 10.1016/j.avsg.2014.10.036. Epub 2015 Jan 15.

PMID:
25597651
6.

Joint hypermobility and headache.

Tinkle BT.

Headache. 2014 Sep;54(8):1412-3. doi: 10.1111/head.12416. No abstract available.

PMID:
25196367
7.

Health supervision for children with Marfan syndrome.

Tinkle BT, Saal HM; Committee on genetics.

Pediatrics. 2013 Oct;132(4):e1059-72. doi: 10.1542/peds.2013-2063. Epub 2013 Sep 30. Review.

PMID:
24081994
8.

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

Abonia JP, Wen T, Stucke EM, Grotjan T, Griffith MS, Kemme KA, Collins MH, Putnam PE, Franciosi JP, von Tiehl KF, Tinkle BT, Marsolo KA, Martin LJ, Ware SM, Rothenberg ME.

J Allergy Clin Immunol. 2013 Aug;132(2):378-86. doi: 10.1016/j.jaci.2013.02.030. Epub 2013 Apr 19.

9.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.

PMID:
23525850
10.

Variable expression of neurofibromatosis 1 in monozygotic twins.

Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK.

Am J Med Genet A. 2011 Mar;155A(3):478-85. doi: 10.1002/ajmg.a.33851. Epub 2011 Feb 18.

PMID:
21337692
11.

Joint hypermobility syndrome: A common clinical disorder associated with migraine in women.

Bendik EM, Tinkle BT, Al-shuik E, Levin L, Martin A, Thaler R, Atzinger CL, Rueger J, Martin VT.

Cephalalgia. 2011 Apr;31(5):603-13. doi: 10.1177/0333102410392606. Epub 2011 Jan 28.

PMID:
21278238
12.

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.

J Pediatr. 2011 May;158(5):826-830.e1. doi: 10.1016/j.jpeds.2010.11.023. Epub 2010 Dec 28.

PMID:
21193204
13.

Craniometaphyseal dysplasia-induced hearing loss.

Sun GH, Samy RN, Tinkle BT, Cornelius RS, Brown DK.

Otol Neurotol. 2011 Feb;32(2):e9-10. doi: 10.1097/MAO.0b013e3181d35e52. No abstract available.

PMID:
20351609
14.

Fetal MR imaging of Kniest dysplasia.

Yazici Z, Kline-Fath BM, Laor T, Tinkle BT.

Pediatr Radiol. 2010 Mar;40(3):348-52. doi: 10.1007/s00247-009-1444-x. Epub 2009 Dec 18.

PMID:
20020120
15.

The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).

Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D.

Am J Med Genet A. 2009 Nov;149A(11):2368-70. doi: 10.1002/ajmg.a.33070. No abstract available.

PMID:
19842204
16.

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ.

Am J Med Genet A. 2009 Aug;149A(8):1691-7. doi: 10.1002/ajmg.a.32966.

PMID:
19610116
17.

Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy.

Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N.

J Pediatr. 2009 Oct;155(4):510-5. doi: 10.1016/j.jpeds.2009.04.031. Epub 2009 Jul 16.

PMID:
19608200
18.

Prenatal diagnosis: beyond decisions about termination.

Mattheis PJ, Hickey F, Tinkle BT, Hopkin R.

J Pediatr. 2008 Nov;153(5):728; author reply 728-9. doi: 10.1016/j.jpeds.2008.06.007. No abstract available.

PMID:
18940367
19.

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.

Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB.

Congenit Heart Dis. 2007 Sep-Oct;2(5):342-6. doi: 10.1111/j.1747-0803.2007.00123.x.

PMID:
18377451
20.

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA.

Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.

PMID:
18025928
21.

Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II.

Tinkle BT, Miller E, Schorry EK.

Hum Genet. 2006 Jul;119(6):677. No abstract available.

PMID:
17128474
22.

Epidemiology of hemimegalencephaly: a case series and review.

Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM.

Am J Med Genet A. 2005 Dec 15;139(3):204-11. Review.

PMID:
16283674
23.

A genetic approach to fracture epidemiology in childhood.

Tinkle BT, Wenstrup RJ.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):38-54.

PMID:
16278883
24.

Long-term survival in a patient with del(18)(q12.2q21.1).

Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ.

Am J Med Genet A. 2003 May 15;119A(1):66-70.

PMID:
12707962
25.

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ.

Am J Med Genet A. 2003 Apr 1;118A(1):90-5.

PMID:
12605450
26.

Transgenic dissection of HIV genes involved in lymphoid depletion.

Tinkle BT, Ueda H, Ngo L, Luciw PA, Shaw K, Rosen CA, Jay G.

J Clin Invest. 1997 Jul 1;100(1):32-9.

27.

Human immunodeficiency virus-associated vasculopathy in transgenic mice.

Tinkle BT, Ngo L, Luciw PA, Maciag T, Jay G.

J Virol. 1997 Jun;71(6):4809-14.

28.

Evidence for apoptosis in human atherogenesis and in a rat vascular injury model.

Han DK, Haudenschild CC, Hong MK, Tinkle BT, Leon MB, Liau G.

Am J Pathol. 1995 Aug;147(2):267-77.

29.

The Alzheimer's A beta peptide induces neurodegeneration and apoptotic cell death in transgenic mice.

LaFerla FM, Tinkle BT, Bieberich CJ, Haudenschild CC, Jay G.

Nat Genet. 1995 Jan;9(1):21-30.

PMID:
7704018
30.

The pathogenic role of human immunodeficiency virus accessory genes in transgenic mice.

Tinkle BT, Ueda H, Jay G.

Curr Top Microbiol Immunol. 1995;193:133-56. Review. No abstract available.

PMID:
7648873
31.

A transgenic model of transactivation by the Tax protein of HTLV-I.

Bieberich CJ, King CM, Tinkle BT, Jay G.

Virology. 1993 Sep;196(1):309-18.

PMID:
8356801

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