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Showing 1 to 12 of 100 entries
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Autoantibody Repertoire in APECED Patients Targets Two Distinct Subgroups of Proteins.

Frontiers in immunology

Fishman D, Kisand K, Hertel C, Rothe M, Remm A, Pihlap M, Adler P, Vilo J, Peet A, Meloni A, Podkrajsek KT, Battelino T, Bruserud Ø, Wolff ASB, Husebye ES, Kluger N, Krohn K, Ranki A, Peterson H, Hayday A, Peterson P.
PMID: 28861084
Front Immunol. 2017 Aug 16;8:976. doi: 10.3389/fimmu.2017.00976. eCollection 2017.

High titer autoantibodies produced by B lymphocytes are clinically important features of many common autoimmune diseases. APECED patients with deficient autoimmune regulator (AIRE) gene collectively display a broad repertoire of high titer autoantibodies, including some which are pathognomonic for...

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Molecular cytogenetics

Stavber L, Bertok S, Kovač J, Volk M, Lovrečić L, Battelino T, Hovnik T.
PMID: 28344653
Mol Cytogenet. 2017 Mar 23;10:10. doi: 10.1186/s13039-017-0312-x. eCollection 2017.

BACKGROUND: The majority of small supernumerary marker chromosome cases arise CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia,...

Association of Average Telomere Length with Body-Mass Index and Vitamin D Status in Juvenile Population with Type 1 Diabetes.

Zdravstveno varstvo

Tesovnik T, Kovac J, Hovnik T, Kotnik P, Battelino T, Trebusak Podkrajsek K.
PMID: 27646911
Zdr Varst. 2015 Mar 13;54(2):74-8. doi: 10.1515/sjph-2015-0011. eCollection 2015 Jun.

BACKGROUND: Type 1 diabetes (T1D) is an autoimmune chronic disease where hyperglycemia, increased risk of oxidative stress, advanced glycation end-products and other genetic and environmental factors lead to T1D complications. Shorter telomeres are associated with hyperglycemic levels and lower...

Continuous glucose monitoring in 2013.

Diabetes technology & therapeutics

Battelino T, Bode BW.
PMID: 24479591
Diabetes Technol Ther. 2014 Feb;16:S11-6. doi: 10.1089/dia.2014.1502.

No abstract available.

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of .

Frontiers in genetics

Kovač J, Klančar G, Trebušak Podkrajšek K, Battelino S.
PMID: 28713423
Front Genet. 2017 Jun 30;8:95. doi: 10.3389/fgene.2017.00095. eCollection 2017.

Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60...

Hiccups and Inappropriate ADH Secretion Syndrome as Presentations of Tick-Borne Disease.

European journal of case reports in internal medicine

Da Porto A, Battellino M, Colussi G, Di Piazza V, Sechi L.
PMID: 31508384
Eur J Case Rep Intern Med. 2019 Jul 24;6(8):001188. doi: 10.12890/2019_001188. eCollection 2019.

Tick-borne diseases (Lyme disease and tick-borne encephalitis) are becoming a major public health concern. Rapid and correct diagnosis is crucial for complicated cases but is often delayed because of low suspicion or unusual clinical presentation. In this paper the...

Patterns of love and sexting in teen dating relationships: The moderating role of conflicts.

New directions for child and adolescent development

Bianchi D, Morelli M, Baiocco R, Cattelino E, Chirumbolo A.
PMID: 34109733
New Dir Child Adolesc Dev. 2021 Jul;2021(178):133-155. doi: 10.1002/cad.20427. Epub 2021 Jun 09.

According to the triangular love theory, this study investigated the roles of three components of love (i.e., passion, intimacy, commitment) and the moderating role of conflicts in predicting different forms of sexting (i.e., experimental, nonconsensual, under pressure) in teen...

Patterns of love and sexting in teen dating relationships: The moderating role of conflicts.

New directions for child and adolescent development

Bianchi D, Morelli M, Baiocco R, Cattelino E, Chirumbolo A.
PMID: 34109733
New Dir Child Adolesc Dev. 2021 Jul;2021(178):133-155. doi: 10.1002/cad.20427. Epub 2021 Jun 09.

According to the triangular love theory, this study investigated the roles of three components of love (i.e., passion, intimacy, commitment) and the moderating role of conflicts in predicting different forms of sexting (i.e., experimental, nonconsensual, under pressure) in teen...

Missed and Mistimed Insulin Doses in People with Diabetes: A Systematic Literature Review.

Diabetes technology & therapeutics

Robinson S, Newson RS, Liao B, Kennedy-Martin T, Battelino T.
PMID: 34270324
Diabetes Technol Ther. 2021 Dec;23(12):844-856. doi: 10.1089/dia.2021.0164. Epub 2021 Oct 26.

No abstract available.

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel .

Molecular genetics and metabolism reports

Bizjak N, Zerjav Tansek M, Avbelj Stefanija M, Repic Lampret B, Mezek A, Drole Torkar A, Battelino T, Groselj U.
PMID: 33304818
Mol Genet Metab Rep. 2020 Dec 02;25:100691. doi: 10.1016/j.ymgmr.2020.100691. eCollection 2020 Dec.

3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated

Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?.

Parkinsonism & related disorders

Klarendic M, Hribar M, Urbancic NB, Zupancic N, Kramberger MG, Trost M, Battelino S, Kaski D, Kojovic M.
PMID: 33517029
Parkinsonism Relat Disord. 2021 Mar;84:15-22. doi: 10.1016/j.parkreldis.2021.01.003. Epub 2021 Jan 12.

BACKGROUND: Progressive supranuclear palsy (PSP) features parkinsonism characterized by early postural instability, falls and prominent eye movement abnormalities that consist of saccadic slowing, followed by gaze limitation. Nystagmus is not considered typical for PSP, being more commonly associated with...

Correction to: InRange: Comparison of the Second-Generation Basal Insulin Analogues Glargine 300 U/mL and Degludec 100 U/mL in Persons with Type 1 Diabetes Using Continuous Glucose Monitoring-Study Design.

Diabetes therapy : research, treatment and education of diabetes and related disorders

Battelino T, Bosnyak Z, Danne T, Mukherjee B, Edelman S, Pilorget V, Choudhary P, Renard E, Bergenstal R.
PMID: 32361833
Diabetes Ther. 2020 Jul;11(7):1607-1608. doi: 10.1007/s13300-020-00820-2.

In the original publication, the timing of baseline CGM assessment was incorrectly stated in the text in two instances; it is correct in Fig. 1.

Showing 1 to 12 of 100 entries