Search Results - "Pueschel, S."
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Down syndrome: otolaryngological effects of rapid maxillary expansion
Published in Journal of laryngology and otology (01-12-2008)“…Phenotypical Down syndrome includes pharyngeal and maxillary hypoplasia and, frequently, constricted maxillary arch with nasal obstruction. This clinical trial…”
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2
Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance
Published in Proceedings of the National Academy of Sciences - PNAS (24-05-1994)“…Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is…”
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3
Psychiatric disorders in persons with Down syndrome
Published in The journal of nervous and mental disease (01-10-1991)“…This study was designed to provide information on the prevalence and nature of psychiatric disorders in 497 individuals with Down syndrome. There were 261…”
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4
Growth charts for children with down syndrome: 1 month to 18 years of age
Published in Pediatrics (Evanston) (1988)“…Centile charts for assessment of stature and weight reflecting expected deficient size and growth rate of home-reared children with Down syndrome are presented…”
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5
Amblyopia and visual acuity in children with Down’s syndrome
Published in British journal of ophthalmology (01-10-1999)“…BACKGROUND/AIMS Amblyopia in people with Down’s syndrome has not been well investigated. This study was designed to determine the prevalence and associated…”
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Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies
Published in Pediatrics (Evanston) (01-10-1987)“…Atlantoaxial instability is a relatively frequent finding in individuals with Down syndrome. We examined 404 patients with this chromosome disorder and…”
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Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
Published in Human molecular genetics (01-05-1993)“…To define the region of 11p15 involved in Beckwith-Wiedemann syndrome (BWS), we have carried out a molecular genetic analysis of six patients with features of…”
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8
Major depression in a small group of adults with down syndrome
Published in Research in developmental disabilities (01-07-1995)“…The clinical histories and treatment of the nine individuals with Down syndrome (DS) and major depression (MD) previously noted in a report on the…”
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Lipids and lipoproteins in persons with Down's syndrome
Published in Journal of intellectual disability research (01-08-1992)“…This study was designed to investigate whether the observed decreased prevalence of coronary artery disease in individuals with Down's syndrome may be…”
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10
A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome
Published in Pediatrics (Evanston) (01-06-1992)“…This study was designed to investigate the natural history of atlantoaxial instability in individuals with Down syndrome and to determine whether significant…”
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11
Newborn screening compared to clinical identification of biochemical genetic disorders
Published in Journal of inherited metabolic disease (01-11-2002)“…A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by…”
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A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America
Published in Acta Paediatrica (01-09-1999)“…In order to estimate the prevalence of celiac disease in persons with Down syndrome, 105 patients with this chromosomal disorder residing on the East Coast of…”
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13
Do olmec figurines resemble children with specific dysmorphology syndromes?
Published in Journal of the history of medicine and allied sciences (01-10-1998)Get full text
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14
Environmental and temperament assessments of children with Down's syndrome
Published in Journal of intellectual disability research (01-04-1994)“…This study was designed to investigate the family environment and the temperament of children with Down's syndrome (DS). Parents of 40 children with DS…”
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Tardive or atypical Tourette's disorder in a population with down syndrome?
Published in Research in developmental disabilities (1995)“…In a population of 425 individuals with Down syndrome, we observed 5 persons (1.2%) with Tourette's disorder. Because the prevalence of Tourette's disorder in…”
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Computerized tomography in persons with Down syndrome and atlantoaxial instability
Published in Spine (Philadelphia, Pa. 1976) (01-07-1992)“…Atlantoaxial instability has been reported to occur in 9-31% of persons with Down syndrome. The authors studied a subsample of patients with this chromosomal…”
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Atlantoaxial instability and Down syndrome
Published in Pediatrics (Evanston) (01-06-1988)Get full text
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18
Sleep-disordered breathing and behavior in three risk groups: preliminary findings from parental reports
Published in Child's nervous system (01-12-1993)“…Sleep-related breathing disorders may cause excessive daytime sleepiness, cognitive impairment, and behavior problems in children and adolescents…”
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A case of schizophrenia in an population with Down syndrome
Published in Journal of autism and developmental disorders (01-02-1994)“…Reports on a man with Down syndrome who had developed schizophrenia and suggests no interrelationship between the two. Questions why people with Down syndrome…”
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20
Towards optimal mental health of persons with Down syndrome
Published in Down's syndrome, research and practice (1998)“…This paper outlines the risk of mental health disorders in adults with Down syndrome and considers the practical ways in which positive well-being can be…”
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