当前位置： SCI文献检索 > CLEFT PALATE-CRANIOFACIAL JOURNAL期刊下所有文献 > Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions.

Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions.

Abstract：

OBJECTIVE:Although Asians have the highest birth prevalence of oral-facial clefts, the majority of gene mapping studies of cleft lip with or without cleft palate (CL/P) have been in European or American Caucasians. Therefore, the objective of this study of Chinese families was to evaluate linkage and association between CL/P and 10 genetic markers in five chromosomal regions that have shown positive results in Caucasians. SETTING:Families were ascertained through nonsyndromic CL/P surgical probands from hospitals throughout Shanghai, China. PARTICIPANTS:Study participants included 671 individuals from 60 families with two or more members affected with oral-facial clefts. Of the 671 total individuals, 145 were affected. RESULTS:Ten markers from chromosomes 2, 4, 6, 17, and 19 were assessed (TGFA, MSX1, D4S194, D4S175, F13A1, GATA185H, D17S250, D17S579, D19S49, APOC2). LOD scores were calculated between each of the 10 markers and CL/P as well as model-free statistics of linkage (SimIBD) and association (TDT). None of the markers showed significantly positive LOD scores with CL/P. A significantly positive result (p =.01) was seen using SimIBD for APOC2 on chromosome 19, and a positive TDT result (p =.004) was obtained for D19S49, near APOC2. CONCLUSIONS:This is the first gene mapping study of CL/P in China. These results indicate that most of the genetic regions with positive results in Caucasian families may not be involved in CL/P found in China, although there is some positive evidence for the candidate region on chromosome 19.

journal_name

Cleft Palate Craniofac J

journal_title

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

authors

Marazita ML,Field LL,Cooper ME,Tobias R,Maher BS,Peanchitlertkajorn S,Liu YE

doi

10.1597/1545-1569_2002_039_0149_nclwow_2.0.co_2

keywords:

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

149-56

issue

2

eissn

1055-6656

issn

1545-1569

journal_volume

39

pub_type

杂志文章

相关文献

CLEFT PALATE-CRANIOFACIAL JOURNAL文献大全
  • Sutureless skin closure for cleft lip repair.

    abstract：OBJECTIVE:To study the quality of scars following the use of butyl cyanoacrylate to close the skin during cleft lip repair. DESIGN:Nonrandomized prospective study. SETTING:Tertiary care hospital. PATIENTS:Patients (n = 104) with cleft lip and palate in combination of various degrees of cleft with the age group rangi...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/05-171

    authors： Mourougayan V

    更新日期：2006-11-01 00:00:00

  • Magnetic resonance imaging of the levator veli palatini muscle before and after primary palatoplasty.

    abstract：OBJECTIVE:To explore the application of magnetic resonance imaging (MRI) in the evaluation of patients with cleft palate before and after primary palatoplasty with particular attention focused on the levator veli palatini muscle. DESIGN:Prospective study using MRIs of subjects before and after primary cleft palate sur...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 临床试验,杂志文章

    doi：10.1597/03-060.1

    authors： Kuehn DP,Ettema SL,Goldwasser MS,Barkmeier JC

    更新日期：2004-11-01 00:00:00

  • Seasonal Influence on the Numbers of Gender-Related Orofacial Cleft Conceptions in the Netherlands.

    abstract：BACKGROUND:In the multifactorial etiology of orofacial clefts (OFCs), environmental factors play an important role. To trace the influence of these factors, the timing of the cell biological mechanisms that occur during embryological development of the primary and secondary palates must be taken into account. That is, ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665620987693

    authors： van der Lek LM,Pool SMW,de Jong K,Vermeij-Keers C,Mouës-Vink CM

    更新日期：2021-01-20 00:00:00

  • Dental caries in the primary dentition of german children with cleft lip, alveolus, and palate.

    abstract：:Objective : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from centra...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/12-106

    authors： Kirchberg A,Makuch A,Hemprich A,Hirsch C

    更新日期：2014-05-01 00:00:00

  • The Greater Palatine "Notch": Clinical Sequelae of an Incomplete Greater Palatine Foramen.

    abstract：:The anatomy of the greater palatine foramen has variation with regard to location, but there have been no reports on the absence of a complete foramen. We present 2 cases of pediatric patients with cleft palates possessing a greater palatine "notch" as opposed to a bony foramen. Awareness of this anomaly is advantageo...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665618762879

    authors： Turin SY,Tang CJ,Gosain AK

    更新日期：2018-09-01 00:00:00

  • Sensitivity of a method for the analysis of facial mobility. I. Vector of displacement.

    abstract：OBJECTIVE:(1) To determine which facial landmarks show the greatest movement during specific facial animations and (2) to determine the sensitivity of our instrument in using these landmarks to detect putatively abnormal facial movements. DESIGN:Movements of an array of skin-based landmarks on five healthy human subje...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1998_035_0132_soamft_2.3.co_2

    authors： Trotman CA,Faraway JJ,Silvester KT,Greenlee GM,Johnston LE Jr

    更新日期：1998-03-01 00:00:00

  • Vocal Loudness as Contributory to the Occurrence of Obligatory Posterior Nasal Turbulence.

    abstract：:Two cases are presented that show increased loudness as contributory to the occurrence of audible posterior nasal turbulence as an obligatory symptom. Case 1 was an 18-month-old boy with repaired cleft palate who exhibited sporadic posterior nasal turbulence with velar flutter that was associated with increased loudne...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665617730366

    authors： Zajac DJ,Eshghi M

    更新日期：2018-02-01 00:00:00

  • Evaluation of primary dentition in cleft lip and palate children with and without natal/neonatal teeth.

    abstract：OBJECTIVE:Natal/neonatal teeth are very common in children with complete unilateral and bilateral cleft lip and palate. The extraction of these teeth is the usual treatment in the Hospital for Rehabilitation of Craniofacial Anomalies. The objective of this study was to verify whether these teeth could be of the normal ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_2000_037_0406_eopdic_2.3.co_2

    authors： Cabete HF,Gomide MR,Costa B

    更新日期：2000-07-01 00:00:00

  • Ultrasound-guided surgery of particulate cancellous bone and marrow from the iliac crest for cleft palate.

    abstract：:Minimally invasive procedures for treatment of disease have become increasingly popular and require specialized instruments and precise imaging guidance. We here propose a technique of minimally invasive surgery with ultrasound echo-guided procedures as a less traumatic and invasive procedure to get particulate cancel...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/13-054

    authors： Kamatani T,Shirota T,Kondo S,Shintani S

    更新日期：2014-11-01 00:00:00

  • Speech and velopharyngeal function in children with an open residual cleft in the hard palate, and the influence of temporary covering.

    abstract：:The influence of an open residual cleft in the hard palate on speech was studied in nine children with cleft lip and palate at about 7 years of age. The subjects were treated by early repair of the velum (before 12 months of age), whereas the repair of the cleft in the hard palate was postponed until about 8 years of ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1996_033_0324_savfic_2.3.co_2

    authors： Lohmander-Agerskov A,Dotevall H,Lith A,Söderpalm E

    更新日期：1996-07-01 00:00:00

  • Functional abnormalities in the neural circuitry of reading in men with nonsyndromic clefts of the lip or palate.

    abstract：OBJECTIVE:The current study was designed to evaluate the neurobiology of reading in a group of men with nonsyndromic clefts of the lip or palate (NSCLP) compared with healthy controls by positron emission tomography. DESIGN:SUBJECTS included eight men with NSCLP compared with six healthy control men. By using radioact...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/05-043

    authors： Goldsberry G,O'Leary D,Hichwa R,Nopoulos P

    更新日期：2006-11-01 00:00:00

  • Contributions of PTCH gene variants to isolated cleft lip and palate.

    abstract：OBJECTIVE:Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medull...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/04-169r.1

    authors： Mansilla MA,Cooper ME,Goldstein T,Castilla EE,Lopez Camelo JS,Marazita ML,Murray JC

    更新日期：2006-01-01 00:00:00

  • Team-oriented care for orofacial clefts: a review of the literature.

    abstract：:Objective : To examine the process of team-oriented care for children with orofacial clefts. Design : Systematic review of available studies reporting team-oriented management of children and adults with orofacial clefts. We identified studies from OVID, PsychINFO, REHABDATA, PubMed, and The Cleft Pa...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/11-137

    authors： McGrattan K,Ellis C

    更新日期：2013-01-01 00:00:00

  • A case of mitochondrial myopathy and cleft palate.

    abstract：OBJECTIVE:To present a child born with both mitochondrial myopathy and cleft palate, outlining medical complications of this dual diagnosis-the first reported case in English literature. METHODS:A preterm Caucasian boy presented to the cleft palate clinic at birth for evaluation of a secondary cleft palate. Multiple a...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/03-040.1

    authors： Franklin JA,Lalikos JF,Wooden WA

    更新日期：2005-05-01 00:00:00

  • Velopharyngeal dysfunction and 22q11.2 deletion syndrome: a longitudinal study of functional outcome and preoperative prognostic factors.

    abstract：OBJECTIVE:To describe the effect of time after velopharyngoplasty on outcome and to search for preoperative prognostic factors for residual hypernasality in patients with 22q11.2 deletion syndrome. DESIGN:Retrospective chart review. SETTING:Tertiary hospital. PATIENTS:Patients with 22q11.2 deletion syndrome and velo...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/10-049

    authors： Spruijt NE,Widdershoven JC,Breugem CC,Speleman L,Homveld IL,Kon M,Mink van der Molen AB

    更新日期：2012-07-01 00:00:00

  • Comparison of the hearing histories of children with and without cleft palate.

    abstract：:Aggressive otologic management has been recommended for children with cleft palate because of the almost universal occurrence of otitis media with effusion (OME) in these children and the association of OME with hearing loss and possible language, cognitive, and academic delays. In this study, 28 children with cleft p...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1996_033_0127_cothho_2.3.co_2

    authors： Broen PA,Moller KT,Carlstrom J,Doyle SS,Devers M,Keenan KM

    更新日期：1996-03-01 00:00:00

  • Simultaneous premaxillary repositioning and cheiloplasty in adult patients with unrepaired bilateral cleft lip and palate.

    abstract：:Primary cheiloplasty in adult patients with unrepaired complete bilateral cleft lip and palate is quite challenging due to severe premaxillary anterior projection. To get the best repair results, the author carried out repositioning of the premaxilla and repair of the lip deformity in a single stage. Positive results ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/09-225

    authors： Lee UL,Cho JB,Choung PH

    更新日期：2013-03-01 00:00:00

  • Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.

    abstract：OBJECTIVE:The 677C-->T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. PATIENTS/PARTICIPANTS:We examined 181 patients with CL/P of central...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/06-174

    authors： Reutter H,Birnbaum S,Lacava AD,Mende M,Henschke H,Bergé S,Braumann B,Lauster C,Schiefke F,Wenghoefer M,Saffar M,Reich R,Scheer M,Kramer FJ,Knapp M,Mangold E

    更新日期：2008-05-01 00:00:00

  • Constriction of the maxillary dental arch by mucoperiosteal denudation of the palate.

    abstract：OBJECTIVE:This study examined the influence of two factors in the constriction of the maxillary dental arch by mucoperiosteal denudation of the palate: (1) inhibition of lateral growth and (2) medial inclination of teeth. METHOD:Thirty-five male 20-day-old Wistar rats were divided into experimental and control groups....

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_2002_039_0425_cotmda_2.0.co_2

    authors： Kim T,Ishikawa H,Chu S,Handa A,Iida J,Yoshida S

    更新日期：2002-07-01 00:00:00

  • The impact of congenital cardiovascular malformations on the assessment and surgical management of infants with cleft lip and/or palate.

    abstract：OBJECTIVE:The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. DESIGN:A single-institution retrospective study of 329 consecutive cleft patien...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/12-131

    authors： Harry BL,TeBockhorst S,Deleyiannis FW

    更新日期：2013-05-01 00:00:00

  • Evaluation of a 3D stereophotogrammetric technique to measure the stone casts of patients with unilateral cleft lip and palate.

    abstract：OBJECTIVE:To assess a three-dimensional stereophotogrammetric method for palatal cast digitization of children with unilateral cleft lip and palate. DESIGN:As part of a collaboration between the University of Milan (Italy) and the University CES of Medellin (Colombia), 96 palatal cast models obtained from neonatal pat...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/10-207

    authors： Sforza C,De Menezes M,Bresciani E,Cerón-Zapata AM,López-Palacio AM,Rodriguez-Ardila MJ,Berrio-Gutiérrez LM

    更新日期：2012-07-01 00:00:00

  • Congenital bilateral coronal suture synostosis in a rabbit and craniofacial growth comparisons with experimental models.

    abstract：:Experimental rabbit models of postnatal coronal suture (CS) synostosis have helped make significant contributions towards the understanding and surgical management of human congenital craniosynostosis. The present study compares craniofacial growth patterns in animals with experimental CS immobilization and in a rabbi...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1993_030_0121_cbcssi_2.3.co_2

    authors： Mooney MP,Losken HW,Tschakaloff A,Siegel MI,Losken A,Lalikos JF

    更新日期：1993-03-01 00:00:00

  • Parent questionnaire for screening early language development in children with cleft palate.

    abstract：:This study investigated the efficacy of a parent questionnaire as a component for screening early language development of children 16 to 30 months of age with cleft lip and palate. Thirty nonsyndromic children with cleft lip and palate and 30 children without clefts received the MacArthur Communicative Development Inv...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1995_032_0007_pqfsel_2.3.co_2

    authors： Scherer NJ,D'Antonio LL

    更新日期：1995-01-01 00:00:00

  • Global strategies to reduce the health care burden of craniofacial anomalies: report of WHO meetings on international collaborative research on craniofacial anomalies.

    abstract：:Although several significant research projects have arisen from international cooperation, especially in the field of genetics, these have been the exception rather than the rule. However, those of us who had the privilege and delight of participating in the World Health Organization meetings were struck by a common r...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 共识发展会议,杂志文章,评审

    doi：10.1597/03-214.1

    authors：

    更新日期：2004-05-01 00:00:00

  • Do the reading disabilities of children with cleft fit into current models of developmental dyslexia?

    abstract：OBJECTIVE:The purpose of this study was to determine whether the reading problems of children with cleft fit models of developmental dyslexia. DESIGN:The study compared children with nonsyndromic cleft lip and palate who had reading disability (n = 46) with those who did not have reading disability (n = 46). The child...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_2003_040_0154_dtrdoc_2.0.co_2

    authors： Richman LC,Ryan SM

    更新日期：2003-03-01 00:00:00

  • Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.

    abstract：:Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A com...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2

    authors： Casey HD,Braddock SR,Haskins RC,Carey JC,Morales L Jr

    更新日期：1996-11-01 00:00:00

  • Nasalance-Based Preclassification of Oral-Nasal Balance Disorders Results in Higher Agreement of Expert Listeners' Auditory-Perceptual Assessments: Results of a Retrospective Listening Study.

    abstract：OBJECTIVE:Reliable perceptual and instrumental assessment of oral-nasal balance disorders is a persistent problem in speech-language pathology. The goal of the study was to evaluate whether nasalance-based preclassification of oral-nasal balance disorders improves listener agreement. DESIGN:Retrospective listening stu...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665619873506

    authors： de Boer G,Marino VCC,Dutka JCR,Pegoraro-Krook MI,Bressmann T

    更新日期：2020-04-01 00:00:00

  • Evaluation of an auditory assessment protocol for Chinese infants with nonsyndromic cleft lip and/or palate.

    abstract：OBJECTIVE:To objectively investigate the auditory status of mainland Chinese infants with nonsyndromic cleft lip and/or palate and to evaluate an auditory assessment protocol for this group. DESIGN:Prospective cohort case review. PATIENTS OR OTHER PARTICIPANTS:A total of 42 Chinese infants with nonsyndromic cleft lip...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/09-140.1

    authors： Yang FF,McPherson B,Shu H

    更新日期：2012-09-01 00:00:00

  • Onlay silicone and hydroxyapatite-tricalciumphosphate composite (HAP-TCP) blocks interfere with nasal bone growth in rabbits.

    abstract：:We investigated how a new type of synthetic porous hydroxyapatite ceramic (HAP-TCP) acts when it is implanted in growing membranous bone. Seventy-six New Zealand White infant male rabbits (4-week-olds) were used. Rabbits received HAP-TCP block or silicone block implantation in their right nasal bone. The left nasal bo...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1995_032_0282_osahtc_2.3.co_2

    authors： Arakaki M,Yamashita S,Mutaf M,Naito S,Fujii T

    更新日期：1995-07-01 00:00:00

  • Clinical applications of orthodontic microimplant anchorage in craniofacial patients.

    abstract：:Microimplant anchors, also known as temporary anchorage devices, mini- and micro-screws, have been used to enhance orthodontic anchorage for difficult tooth movements. Here, the authors describe how microimplants can be used to help treat craniofacial patients by supporting distraction osteogenesis procedures, maxilla...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/06-219.1

    authors： Vachiramon A,Urata M,Kyung HM,Yamashita DD,Yen SL

    更新日期：2009-03-01 00:00:00