Works matching DE "VELOCARDIOFACIAL syndrome"
Results: 323
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.
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- Molecular & Cellular Biochemistry, 2007, v. 303, n. 1/2, p. 9, doi. 10.1007/s11010-007-9450-5
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- Article
22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases.
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- Pediatric Cardiology, 2013, v. 34, n. 7, p. 1687, doi. 10.1007/s00246-013-0694-4
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- Article
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT<sup>158</sup> Allele.
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- Neuropsychopharmacology, 2009, v. 34, n. 3, p. 739, doi. 10.1038/npp.2008.132
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- Article
Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome.
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- Neuropsychopharmacology, 2008, v. 33, n. 7, p. 1252, doi. 10.1038/sj.npp.1301508
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- Article
A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.
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- European Psychiatry, 2014, v. 29, n. 4, p. 203, doi. 10.1016/j.eurpsy.2013.07.001
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- Article
W01-01 - From karyotype to targeted microarray
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- 2012
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- Abstract
PW01-165 - Identification of a de novo 22q11.2 distal deletion in an adult female referred for an anxiety disorder
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- 2010
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- Abstract
P03-222 A weak association of the CLDN5 locus with schizophrenia in Chinese case-control samples
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- 2009
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- Abstract
P02-13 Meta-analysis of magnetic resonance imaging studies in velocardiofacial syndrome (VCFS)
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- 2009
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- Abstract
Grasping the Opportunity.
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- International Journal of Oral & Maxillofacial Implants, 1995, v. 10, n. 3, p. 1
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- Article
Temporomandibular Disorders after Whiplash Injury: A Controlled, Prospective Study.
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- Journal of Orofacial Pain, 2002, v. 16, n. 2, p. 118
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- Article
Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis.
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- 2014
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- Case Study
Correlation between otitis media and craniofacial morphology in adults.
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- ENT: Ear, Nose & Throat Journal, 2007, v. 86, n. 12, p. 738
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- Article
Retropharyngeal carotid artery.
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- ENT: Ear, Nose & Throat Journal, 2007, v. 86, n. 11, p. 665, doi. 10.1177/014556130708601114
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- Article
Mandibular distraction osteogenesis with a small semiburied device in neonates: Report of 2 cases.
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- ENT: Ear, Nose & Throat Journal, 2006, v. 85, n. 2, p. 102, doi. 10.1177/014556130608500214
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- Article
Mid Line Craniofacial Defects and Morning Glory Disc Anomaly with Clinical Anophthalmos—A Distinct Clinical Entity.
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- Orbit, 2010, v. 29, n. 1, p. 57, doi. 10.3109/01676830903294669
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- Article
Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2.
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- Ophthalmic Genetics, 2010, v. 31, n. 1, p. 24, doi. 10.3109/13816810903426249
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- Article
"3D Imaging Using Laser Scanner In Oral And Craniofacial Region - An Overview".
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- Indian Journal of Dental Sciences, 2012, v. 4, n. 2, p. 93
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- Article
Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction.
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- Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2010, v. 44, n. 6, p. 282, doi. 10.3109/2000656X.2010.516594
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- Article
Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.
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- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09372-3
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- Article
Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH).
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- Egyptian Journal of Medical Human Genetics, 2012, v. 13, n. 3, p. 313, doi. 10.1016/j.ejmhg.2012.04.006
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- Article
Craniofacial proportions and anthropometric measurements among growth hormone deficient Egyptian children.
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- Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 161
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- Article
Case of psychotic patient with suspected Shprintzen- Goldberg syndrome.
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- Psychiatry & Clinical Neurosciences, 2014, v. 68, n. 5, p. 388, doi. 10.1111/pcn.12141
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- Article
Velocardiofacial syndrome presenting as chronic mania.
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- Psychiatry & Clinical Neurosciences, 2010, v. 64, n. 6, p. 666, doi. 10.1111/j.1440-1819.2010.02144.x
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- Article
Unilateral complete articulated ossification and aberrant thickening of the stylohyoid chain.
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- 2017
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- journal article
Comparison between the external gonial angle in panoramic radiographs and lateral cephalograms of adult patients with Class I malocclusion.
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- Journal of Oral Science, 2009, v. 51, n. 3, p. 425, doi. 10.2334/josnusd.51.425
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- Article
Dysgerminoma of the ovary in a patient with triple-X syndrome (47, XXX) and Marfanoid habitus features.
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- Ginekologia Polska, 2021, v. 92, n. 6, p. 466, doi. 10.5603/GP.2021.0106
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- Article
An increased Incidence of Exposure to Fentanyl - Contaminated Heroin Among Illicit Opioid Users and the Craniofacial Manifestations of Heroin Use.
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- Oklahoma Dental Association Journal, 2018, v. 109, n. 5, p. 32
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- Article
A case of Marshall-Smith or Weaver syndrome.
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- Journal of the Royal Society of Medicine, 1989, v. 82, n. 11, p. 682, doi. 10.1177/014107688908201117
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- Article
Craniofacial Morphometry for Craniofacial Implant.
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- International Journal of Morphology, 2012, v. 30, n. 3, p. 1166, doi. 10.4067/S0717-95022012000300063
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- Article
Thoracic Vagal Ganglion and Referred Craniofacial Pain: a Case Report and Review.
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- International Journal of Morphology, 2007, v. 25, n. 1, p. 33
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- Article
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
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- 2009
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- journal article
Síndrome de Treacher Collins. Reporte de un caso.
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- Revista Mexicana de Pediatria, 2010, v. 77, n. 4, p. 159
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- Article
Neuropathology of 22q11 Deletion Syndrome in an Infant.
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- Pediatric & Developmental Pathology, 2014, v. 17, n. 5, p. 386, doi. 10.2350/13-11-1399-CR.1
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- Article
Cardiac Registry Screening for DiGeorge Critical Region Deletion Using Loss of Heterozygosity Analysis.
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- Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 266, doi. 10.2350/06-02-0041.1
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- Article
Differential Detection of Deletion 22q11.2 Syndrome by Specialty and Indication.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 5, p. 557, doi. 10.1007/s10024-005-0056-1
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- Article
Topical review: Temporomandibular disorders in an integral otic symptom model.
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- International Journal of Audiology, 2008, v. 47, n. 4, p. 215, doi. 10.1080/14992020701843137
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- Article
Prenatal ultrasound diagnosis of isolated conotruncal anomalies.
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- 2000
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- Case Study
Oral manifestations of a rare variant of Marfan syndrome.
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- Clinical Case Reports, 2017, v. 5, n. 9, p. 1429, doi. 10.1002/ccr3.1058
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- Article
Risk of malignancy in 22q11.2 deletion syndrome.
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- Clinical Case Reports, 2017, v. 5, n. 4, p. 486, doi. 10.1002/ccr3.880
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- Article
Cervical Aortic Arch: Echocardiographic and Three-Dimensional Computed Tomography View.
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- 2010
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- Case Study
Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome.
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- Folia Phoniatrica et Logopaedica, 2009, v. 61, n. 2, p. 93, doi. 10.1159/000209252
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- Article
Present-Day Importance of the Velocardiofacial Syndrome.
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- Folia Phoniatrica et Logopaedica, 2007, v. 59, n. 3, p. 141, doi. 10.1159/000101772
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- Article
Genetic Aspects of the Obstructive Sleep Apnoea-Hypopnoea Syndrome.
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- Somnologie, 2006, v. 10, n. 3, p. 101, doi. 10.1111/j.1439-054X.2006.00092.x
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- Article
Ethical issues in pediatric face transplantation.
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- Pediatric Transplantation, 2017, v. 21, n. 7, p. n/a, doi. 10.1111/petr.13032
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- Article
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
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- British Journal of Dermatology, 2011, v. 164, n. 3, p. 521, doi. 10.1111/j.1365-2133.2010.10122.x
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- Article
The proteins ARVCF and p0071 in renal cell carcinomas and their potential use in the diagnosis of renal tumours.
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- 2009
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- Publication type:
- Letter
CT Imaging of Craniofacial Fibrous Dysplasia.
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- Case Reports in Dentistry, 2015, v. 2015, p. 1, doi. 10.1155/2015/134123
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- Article
A Novel Technique of Impression Procedure in a Hemimaxillectomy Patient with Microstomia.
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- Case Reports in Dentistry, 2012, p. 1, doi. 10.1155/2012/272161
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- Article
DERMATITIS HERPETIFORMIS BODIES AND AUTOANTIBODIES TO NONCUTANEOUS ORGANS AND MITOCHONDRIA IN DERMATITIS HERPETIFORMIS.
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- Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 4, p. 283, doi. 10.7241/ourd.20124.63
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- Article