Physician

Medical Genetics

Dr. Siegfried Pueschel, MD

Siegfried Pueschel is an expert in the field of Medical Genetics. Siegfried Pueschel is also published. He has 101 publications published. The lastest publication: "Do Olmec figurines resemble children with specific dysmorphology syndromes?'

Publications

Risk for trisomy 21 in offspring of individuals who have relatives with trisomy 21.
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.
Neuropsychological functioning in treated phenylketonuria.
Atypical background somatic mutant frequencies at the HPRT locus in children and adults with Down syndrome.
Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
Counseling parents of infants with Down''s syndrome.
Meeting with brothers and sisters of children with Down''s syndrome.
Frequency of fragile X chromosome in normal females.
Etiologic interrelationship in Down''s syndrome, hypothyroidism, and precocious sexual development.
Screening the neonate for development and genetic disorders.
Newborn screening compared to clinical identification of biochemical genetic disorders.
Influence of age on activities of antioxidant enzymes and lipid peroxidation products in erythrocytes and neutrophils of Down syndrome patients.
Amblyopia and visual acuity in children with Down''s syndrome.
Uric acid and allantoin levels in Down syndrome: antioxidant and oxidative stress mechanisms?
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
Markers of oxidative stress in children with Down syndrome.
Voice parameters in children with Down syndrome.
The effect of acetyl-L-carnitine administration on persons with Down syndrome.
Rapid maxillary expansion and nasal patency in children with Down syndrome.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Down syndrome: otolaryngological effects of rapid maxillary expansion.
Do Olmec figurines resemble children with specific dysmorphology syndromes?
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Towards optimal mental health of persons with Down syndrome.
A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America.
Atlanto-axial subluxation in Down syndrome.
Children with an increased lead burden. A screening and follow-up study.
Fluoridation and the occurrence of Down''s syndrome.
Unilateral partial adactyly in Down''s syndrome.
Neurological and psychomotor functions in children with an increased lead burden.
Fetomaternal placental transfer mechanisms of aromatic amino acids in Macaca mulatta.
Biological and behavioural assessments of young rhesus monkeys after intrauterine exposure to high phenylalanine concentrations.
Brief report: screening children with autism for fragile-X syndrome and phenylketonuria.
Maternal phenylketonuria.
Neurological findings in patients with the fragile-X syndrome.
Birth weight of children with Down''s syndrome.
Letter: Fluoridation and Down''s syndrome.
Early intervention with families of newborns with Down''s syndrome.
Pathogenetic considerations of pica in lead poisoning.
An educational and counseling program for phenylketonuric adolescent girls and their parents.
A dominantly inherited congenital anomaly syndrome with blepharophimosis.
Thiamine-responsive intermittent branched-chain ketoaciduria.
Intelligence and phenylketonuria: effects of diet termination.
Enamel hypoplasia in children with galactosemia associated with periods of poor control.
Experience with prenatal diagnosis in Rhode Island.
The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.
Assessment of counseling practices at the birth of a child with Down''s syndrome.
Should children with Down syndrome be screened for atlantoaxial instability?
Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings.
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene fo...
Reflex seizures in Down syndrome.
Growth hormone response after administration of L-dopa, clonidine, and growth hormone releasing hormone in children with Down syndrome.
Environmental and temperament assessments of children with Down''s syndrome.
Brief report: a case of schizophrenia in a population with Down syndrome.
Sleep-disordered breathing and behavior in three risk groups: preliminary findings from parental reports.
Mitral valve prolapse in persons with Down syndrome.
Posterior occipitoatlantal hypermobility in Down syndrome: an analysis of 199 patients.
Elevated erythropoietin levels in cord blood of newborns with Down''s syndrome.
Tardive or atypical Tourette's disorder in a population with Down syndrome?
Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH).
Major depression in a small group of adults with Down syndrome.
A cluster of infants born with trisomy 18.
Behavioral/emotional problems in mentally retarded children and youth.
Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.
Clinical Pathological Conference. Small, post-dates infant with severe respiratory distress.
Familial X-linked mental retardation syndrome associated with minor congenital anomalies, macro-orchidism, and fragile X-chromosome.
Chromosome 11 and Beckwith-Wiedemann syndrome.
Neurophysiological, psychological, and nutritional investigations during discontinuation of the phenylalanine-restricted diet in children with classic phenylketonuria.
Utilization and benefits of prenatal diagnosis in Rhode Island.
X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family.
Interrelationships of biological environmental and competency variables in young children with Down syndrome.
Atlanto-axial instability in children with Down syndrome.
Partial trisomy 21.
Social development and feeding milestones of young Down syndrome children.
5-hydroxytryptophan and pyridoxine. Their effects in young children with Down's syndrome.
Education of handicapped children. The physician has an important role and responsibility in this education.
Nonketotic hyperglycinemia: clinical, biochemical, and therapeutic considerations.
Therapeutic attempts in infants with nonketotic hyperglycinaemia.
Symptomatic atlantoaxial subluxation in persons with Down syndrome.
Placental transfer of phenylalanine in Macaca mulatta and Macaca fascicularis.
Placental transfer of aromatic amino acids in non-human primates.
Incidence of Down's syndrome in Rhode Island.
A study of placental transfer mechanisms in nonhuman primates using [14C]phenylalanine.
Partial trisomy 2p.
Klinefelter syndrome and associated fragile-X syndrome.
Pseudodementia in the mentally retarded. A case report and review.
Effects of fenfluramine on the behavior of autistic individuals.
Thyroid dysfunction in Down syndrome.
Changes of counseling practices at the birth of a child with Down syndrome.
Adolescent development in males with Down syndrome.
Thiamine non-responsive intermittent branched-chain ketoaciduria in a Laotian child.
Infantile sialic acid storage disease associated with renal disease.
Studies on experimentally induced hyperphenylalaninemia.
Facial plastic surgery for children with Down syndrome.
Parents'' perception of social and sexual functions in adolescents with Down''s syndrome.
Down syndrome.
Atlantoaxial instability and Down syndrome.
Growth charts for children with Down syndrome: 1 month to 18 years of age.
Cognitive and learning processes in children with Down syndrome.

Doctors Specialties

Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

Boston Children's Hospital
University of Dusseldorf Medical Acadamy

Hospital

Rhode Island Hospital

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