相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Inactivation of LAR family phosphatase genes Ptprs and Ptprf causes craniofacial malformations resembling Pierre-Robin sequence
Katherine Stewart et al.
DEVELOPMENT (2013)
Educational achievements in Pierre Robin Sequence
Martin Persson et al.
JOURNAL OF PLASTIC SURGERY AND HAND SURGERY (2013)
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
Maki Fukami et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Tom B. Davidson et al.
BMC MEDICAL GENETICS (2012)
Prevalence of Dental Anomalies in Nonsyndromic Individuals With Cleft Lip and Palate: A Systematic Review and Meta-analysis
Patricia Nivoloni Tannure et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2012)
FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish
Michella Ghassibe-Sabbagh et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Toriello-Carey Syndrome With a 6Mb Interstitial Deletion at 22q12 Detected by Array CGH
Edith Said et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Microdeletion 20p12.3 Involving BMP2 Contributes to Syndromic Forms of Cleft Palate
Trilochan Sahoo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
The Meckel's cartilage in human embryonic and early fetal periods
Marzena Wyganowska-Swiatkowska et al.
ANATOMICAL SCIENCE INTERNATIONAL (2011)
Mandibular Distraction Osteogenesis in Infants Younger Than 3 Months
Andrew R. Scott et al.
Archives of Facial Plastic Surgery (2011)
Side of Dental Anomalies and Taurodontism as Potential Clinical Markers for Cleft Subphenotypes
Erika Calvano Kuechler et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2011)
Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis
Francie Barron et al.
DEVELOPMENT (2011)
Robin Sequence: From Diagnosis to Development of an Effective Management Plan
Kelly N. Evans et al.
PEDIATRICS (2011)
Clefts of the Secondary Palate Referred to the Oslo Cleft Team: Epidemiology and Cleft Severity in 994 Individuals
Els-Marie Andersson et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2010)
Prdm16 is required for normal palatogenesis in mice
Bryan C. Bjork et al.
HUMAN MOLECULAR GENETICS (2010)
Distraction osteogenesis of the mandible for airway obstruction in children: Long-term results
Robert J. Tibesar et al.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2010)
Clinical Experience With the Application of Distraction Osteogenesis for Airway Obstruction
David G. Genecov et al.
JOURNAL OF CRANIOFACIAL SURGERY (2009)
Long-range regulation at the SOX9 locus in development and disease
C. T. Gordon et al.
JOURNAL OF MEDICAL GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
Unraveling human cleft lip and palate research
A. R. Vieira
JOURNAL OF DENTAL RESEARCH (2008)
Defining subphenotypes for oral clefts based on dental development
A. Letra et al.
JOURNAL OF DENTAL RESEARCH (2007)
Multiple functions of Snail family genes during palate development in mice
Stephen A. Murray et al.
DEVELOPMENT (2007)
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
M. Leipoldt et al.
CLINICAL GENETICS (2007)
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development
Olga Britanova et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The tale of a nail sign in chromosome 4q34 deletion syndrome
Julie Vogt et al.
CLINICAL DYSMORPHOLOGY (2006)
Mandibular morphology and growth with and without hypodontia in subjects with Pierre Robin sequence
Sunjay Suri et al.
AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS (2006)
The genetic basis of the Pierre Robin Sequence
LP Jakobsen et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2006)
Robin sequence: A retrospective review of 115 patients
Adele Karen Evans et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2006)
The right ventricle, outflow tract, and ventricular septum comprise a restricted expression domain within the secondary/anterior heart field
MP Verzi et al.
DEVELOPMENTAL BIOLOGY (2005)
Experimental aspects of the pathogenesis of Robin sequence
J Schubert et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2005)
Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
GVN Velagaleti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
A pair of Sox:: distinct and overlapping functions of zebrafish sox9 co-orthologs in craniofacial and pectoral fin development
YL Yan et al.
DEVELOPMENT (2005)
Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation
N Jamshidi et al.
JOURNAL OF MEDICAL GENETICS (2004)
Pierre Robin sequence in Denmark: A retrospective population-based epidemiological study
A Printzlau et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2004)
Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest
Y Mori-Akiyama et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
M Melkoniemi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
The phenotype of survivors of campomelic dysplasia
S Mansour et al.
JOURNAL OF MEDICAL GENETICS (2002)
Motor dysfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing electromyography and esophageal manometry
JJ Baudon et al.
JOURNAL OF PEDIATRICS (2002)
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence
V Abadie et al.
EUROPEAN JOURNAL OF PEDIATRICS (2002)
De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly
A Aboura et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis
BJ Herron et al.
NATURE GENETICS (2002)
Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: An oral clefting model supporting the Pierre-Robin sequence
JE Ricks et al.
TERATOLOGY (2002)
Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects
HJ Stalker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Pierre Robin sequence: A series of 117 consecutive cases
M Holder-Espinasse et al.
JOURNAL OF PEDIATRICS (2001)
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2
C Houdayer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Oroesophageal motor disorders in Pierre Robin syndrome
G Baujat et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2001)
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature
APM van den Elzen et al.
EUROPEAN JOURNAL OF PEDIATRICS (2001)
分享论文
