Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.


:Cleidocranial dysplasia (CCD) is a rare, well-defined skeletal disorder with autosomal dominant inheritance and complete penetrance. Although it involves the whole skeletal system, the main clinical manifestations of CCD are malformations of the skull and clavicles, which lead to a typical appearance of the face and shoulders. Dental aspects are particularly evident and often eruption difficulties are the first indication for the patient, who does not present any other problem. It has been established that insufficiency of the RUNX-related transcription factor, the core-binding factor alpha 1 (CBFA1) protein, causes CCD. This protein is essential in skeletal development by regulating osteoblast differentiation and chondrocyte maturation. CBFA1 protein is encoded by the RUNX2 gene located on chromosome 6p21. The molecular characterization of the novel RUNX2 gene mutation c.580 + 1G > A in an Italian family (a 27-year-old female, her 54-year-old mother and 24-year-old sister) affected by the typical CCD phenotype, which was proven to alter splicing of the RUNX2 messenger RNA, underscoring the contribution of novel altered splicing mechanism to the aetiology of this disease is presented.


Eur J Orthod


Marchisella C,Rolando F,Muscarella LA,Zelante L,Bracco P,Piemontese MR




Has Abstract


2011-10-01 00:00:00














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    abstract::The purpose of this study was to investigate cephalometrically, the effects of a functional appliance-headgear combination, the Elastic Bite-block (EBB). Of 50 Class II division 1 subjects who participated in this study, 30 made up the treatment group and 20 the control group. All of the selected cases exhibited mandi...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Erverdi N,Ozkan G

    更新日期:1995-10-01 00:00:00

  • Intra- and inter-examiner reliability of intraoral malocclusion assessment.

    abstract::Malocclusion assessment methods are based on measurements of study casts, which requires that impressions be taken. In addition to being costly and time consuming, this process can be unpleasant for children. Therefore, the aim of this study was to evaluate intra- and inter-examiner reliability of intraoral score meas...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Ovsenik M,Farcnik F,Verdenik I

    更新日期:2007-02-01 00:00:00

  • Effects of dietary oil contamination and absence of prophylaxis on orthodontic bonding.

    abstract::The effect of contamination by dietary oil on acid etching has not been reported in the literature. If dietary oil adversely affects acid etching, then a decrease in bond strength is expected. This in vitro study investigated the bond strength of brackets bonded to tooth surfaces that had been contaminated with dietar...

    journal_title:European journal of orthodontics

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Tan LS,Lew KK,Toh SL

    更新日期:1997-04-01 00:00:00

  • Comparison of human dental and craniofacial maturation on prenatal profile radiographs.

    abstract::The present study reveals new data concerning the prenatal interrelationship between maturation of teeth and basicranial bones. By using radiographs of the mid-sagittal tissue segment of 43 human craniums, the developmental relationship between a well-defined stage of the central maxillary incisor development and the ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Christensen LR,Kjaer I,Graem N

    更新日期:1993-04-01 00:00:00

  • Palatally impacted canines and the modified index of orthodontic treatment need.

    abstract::The aim of this study was to assess the severity of any underlying malocclusion in subjects presenting for treatment of a palatally impacted canine (PIC) using a modification of the Dental Health Component (DHC) of the Index of Treatment Need (MIOTN), which does not factor in the impacted canine. The pre-treatment stu...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Barlow ST,Moore MB,Sherriff M,Ireland AJ,Sandy JR

    更新日期:2009-08-01 00:00:00

  • Space conditions and dental and occlusal features in patients with palatally impacted maxillary canines: an aetiological study.

    abstract::The aetiology of palatal canine impaction is unclear. The aim of this research was to investigate the occlusal features that could contribute to the aetiology of palatal maxillary canine impaction. The material consisted of the pre-treatment dental casts of 34 patients (27 female and seven male) with unilateral palata...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Al-Nimri K,Gharaibeh T

    更新日期:2005-10-01 00:00:00

  • Postural variation in oropharyngeal dimensions in subjects with sleep disordered breathing: a cephalometric study.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Battagel JM,Johal A,Smith AM,Kotecha B

    更新日期:2002-06-01 00:00:00

  • Class II subdivision treatment with tip-back moments.

    abstract::Unilateral tip-back mechanics are challenging because of a number of undesirable side-effects associated with their use during orthodontic treatment. The purpose of this paper is to review the differential diagnosis and treatment planning of Class II subdivision malocclusions and present a treatment strategy based on ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Shroff B,Lindauer SJ,Burstone CJ

    更新日期:1997-02-01 00:00:00

  • An appliance designed for experimental mandibular hyperpropulsion in rats.

    abstract::Many animal experiments dealing with function-form interaction and mandibular condylar growth have utilized hyperpropulsion of the animal's mandible. Numerous hyperpropulsive appliances have been described in the literature. However, there are significant discrepancies between reported results which are most likely du...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Tsolakis AI,Spyropoulos MN

    更新日期:1997-02-01 00:00:00

  • Adaptive condylar growth and mandibular remodelling changes with bionator therapy--an implant study.

    abstract::The purpose of this study was to describe condylar growth and mandibular remodelling changes associated with bionator therapy. Twenty-five patients (15 males and 10 females) between 6.9 and 11.2 years of age with Class II division 1 malocclusions were randomly allocated to either control (n = 11) or treatment (n = 14;...

    journal_title:European journal of orthodontics

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Araujo AM,Buschang PH,Melo AC

    更新日期:2004-10-01 00:00:00

  • The extent of enamel surface fractures. A quantitative comparison of thermally debonded ceramic and mechanically debonded metal brackets by energy dispersive micro- and image-analysis.

    abstract::This clinical study investigated the practical value of two methods for debonding brackets attached by the adhesive Concise to acid-etched enamel surfaces. Forty-two Ultratrimm Standard metal brackets and 42 Fascination ceramic brackets were collected from juvenile patients undergoing orthodontic treatment. All metal ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Stratmann U,Schaarschmidt K,Wegener H,Ehmer U

    更新日期:1996-12-01 00:00:00

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    abstract:BACKGROUND/OBJECTIVE:Facial asymmetry is very common in adult class III patients; however, the degree of facial asymmetry in growing class III subjects has been poorly investigated. Therefore, the aim was to assess the degree of facial asymmetry of growing class III subjects and to compare it with a sample of growing s...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Ovsenik M,Perinetti G,Zhurov A,Richmond S,Primozic J

    更新日期:2014-08-01 00:00:00

  • Change in alveolar bone level of mandibular second and third molars after second molar protraction into missing first molar or second premolar space.

    abstract:OBJECTIVE:To investigate the factors associated with the change in alveolar bone level of mandibular second and third molars after second molar protraction into the space of the missing first molar (L6) or second premolar (LE). METHODS:Fifty-one patients in whom space of the missing L6 or LE was treated with second mo...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Baik UB,Choi HB,Kim YJ,Lee DY,Sugawara J,Nanda R

    更新日期:2019-09-21 00:00:00

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Holberg C,Winterhalder P,Rudzki-Janson I,Wichelhaus A

    更新日期:2014-10-01 00:00:00

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    abstract::The purpose of this work was to examine whether the clinical eruption of the permanent first molars and incisors is affected by pre-term birth. The data applied to 328 prematurely born white and black children and 1804 control children who participated in the Collaborative Perinatal Project (USA) in the early 1960s an...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Harila-Kaera V,Heikkinen T,Alvesalo L

    更新日期:2003-06-01 00:00:00

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    abstract:Objective:To assess the dental, skeletal, and profile changes after functional appliances and subsequent fixed appliances treatment in order to quantify their effect and evaluate the influence of initial incisal inclination and growth pattern. Materials and methods:A retrospective cephalometric analysis was performed ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Zelderloo A,Cadenas de Llano-Pérula M,Verdonck A,Fieuws S,Willems G

    更新日期:2017-06-01 00:00:00

  • An analysis of orthodontic force systems applied to the dentition with diminished alveolar support.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Braun S,Winzler J,Johnson BE

    更新日期:1993-02-01 00:00:00

  • The aetiological factors in Class III malocclusion.

    abstract::This retrospective, cephalometric study was undertaken in an attempt to identify the aetiological features which may be associated with a Class III malocclusion in the growing child. Four-hundred-and-ninety-five lateral cephalometric radiographs (210 control and 285 Class III films) formed the basis of the study. All ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Battagel JM

    更新日期:1993-10-01 00:00:00

  • Malocclusion and occlusal traits in an urban Iranian population. An epidemiological study of 11- to 14-year-old children.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Borzabadi-Farahani A,Borzabadi-Farahani A,Eslamipour F

    更新日期:2009-10-01 00:00:00

  • Growth changes in the cranial base and the face: a longitudinal cephalometric study of linear and angular changes in adult Norwegians.

    abstract::The purpose of this study was to examine the natural growth changes which occur between 22 and 33 years of age. The material consisted of two series of cephalograms of 74 females and 90 males with approximately 11 years between the two series. None of the subjects had orthodontic retainers when the first exposure was ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Bondevik O

    更新日期:1995-12-01 00:00:00

  • Outcome quality of Class II division 1 Herbst-multibracket appliance treatment: influence of pretreatment Class II severity and skeletal maturity.

    abstract:BACKGROUND:No reliable predictive factors for treatment (Tx) success and outcome quality in Class II:1 Tx have been identified yet. OBJECTIVE:To assess the influence of pre-Tx Class II severity and skeletal maturity on outcome quality after Herbst-multibracket appliance (MBA) Tx. SUBJECTS AND METHODS:All Class II:1 p...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Bock NC,Jost J,Ruf S

    更新日期:2020-09-24 00:00:00

  • Does orthodontic tooth movement cause an elevation in systemic inflammatory markers?

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: MacLaine JK,Rabie AB,Wong R

    更新日期:2010-08-01 00:00:00

  • Survey of congenitally missing teeth in orthodontic patients in Eastern Bavaria.

    abstract::This retrospective study examined the occurrence of congenitally missing permanent teeth and the need for dental treatment in the Regensburg University Medical Centre of Eastern Bavaria. Using a dental administration software tool, a total of 1442 patients who presented for orthodontic treatment between 1994 and 2006 ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Behr M,Proff P,Leitzmann M,Pretzel M,Handel G,Schmalz G,Driemel O,Reichert TE,Koller M

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  • Female adolescent craniofacial growth spurts: real or fiction?

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Buschang PH,Jacob HB,Demirjian A

    更新日期:2013-12-01 00:00:00

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Rongo R,Bucci R,Adaimo R,Amato M,Martina S,Valletta R,D'antò V

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Sasaki Y,Satoh K,Hayasaki H,Fukumoto S,Fujiwara T,Nonaka K

    更新日期:2009-10-01 00:00:00

  • The effect of environmental factors on elastomeric chain and nickel titanium coil springs.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Nattrass C,Ireland AJ,Sherriff M

    更新日期:1998-04-01 00:00:00

  • Development of a 3D human osteoblast cell culture model for studying mechanobiology in orthodontics.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Brezulier D,Pellen-Mussi P,Tricot-Doleux S,Novella A,Sorel O,Jeanne S

    更新日期:2020-09-11 00:00:00

  • Overbite and overjet correction in a Class II, division 1 sample treated with Edgewise therapy.

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    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Hellekant M,Lagerström L,Gleerup A

    更新日期:1989-05-01 00:00:00

  • Self-perceived orthodontic treatment need and culturally related differences among adolescents in Sweden.

    abstract::The aim of this investigation was to compare Swedish and immigrant groups of 12- and 13-year-old boys and girls with respect to: (1) self-perceived need for and attitude to orthodontic treatment, (2) attitude to own teeth and general appearance, (3) behaviour pattern and psychosocial functioning, and (4) self-perceive...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章


    authors: Josefsson E,Bjerklin K,Halling A

    更新日期:2005-04-01 00:00:00