Physician
Pediatrics
Dr. Dianne Abuelo, MD
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Dianne Abuelo practices Pediatrics. She studied medicine at NYU School of Medicine. Dianne Abuelo has written publications. She has 76 publications published with PubMed. The lastest paper is: 'Cholesterol supplementation in Smith-Lemli-Opitz syndrome.'
Publications
- A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
- Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.
- Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
- Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.
- Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
- XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
- Medical genetics: past, present and future.
- Cholesterol supplementation in Smith-Lemli-Opitz syndrome.
- Premature Alzheimer disease was not due to trauma: molecular biology revises diagnosis 15 years after patient's autopsy.
- Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
- Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
- Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome.
- Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.
- Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
- Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
- Cardiac malformation in two infants with hypochondrogenesis.
- Fryns syndrome: a new definition.
- Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
- Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.
- Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
- Developmental delay caused by a supernumerary chromosome, inv dup (15), identified by fluorescent in situ hybridization.
- A cluster of infants born with trisomy 18.
- Symmetrical infantile thalamic degeneration in two sibs.
- Case 51-1980: Mode of inheritance of congenital heart disease.
- Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).
- Prognosis for couples who have experienced repeated pregnancy loss.
- Picture of the month: Frontometaphyseal dysplasia.
- Utilization and benefits of prenatal diagnosis in Rhode Island.
- Incidence of Down's syndrome in Rhode Island.
- Screening the neonate for development and genetic disorders.
- Scalp defects in trisomy 13.
- Frequency of fragile X chromosome in normal females.
- A newborn infant with bilious vomiting and jitteriness.
- Tay-Sachs disease: knowledge and attitudes of the rabbinical community.
- Follow-up of infants with amniotic fluid trisomy 20 mosaicism.
- Genetic principles.
- Midtrimester diagnosis of severe deforming osteogenesis imperfecta with autosomal dominant inheritance.
- Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
- Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.
- Ataxia telangiectasia and acinic cell carcinoma of the parotid gland.
- Neurofibromatosis with fully expressed Noonan syndrome.
- Risk for trisomy 21 in offspring of individuals who have relatives with trisomy 21.
- Insertional translocations: report of two new families and review of the literature.
- Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
- Lethal osteogenesis imperfecta.
- Genetic counseling for low maternal serum alpha-fetoprotein.
- Acute renal insufficiency due to renal infarctions in a patient with neurofibromatosis.
- Treatment of antenatal myasthenia gravis.
- Anxiety in women with low maternal serum alpha-fetoprotein screening results.
- "Prolife" perinatologist.
- Genetic counseling in Rhode Island.
- Genetic disorders in Southeast Asian immigrants.
- Partial trisomy 8 (trisomy 8q2106 leads to 8qter).
- Prenatal diagnosis of homozygous alpha-thalassemia.
- Experience with prenatal diagnosis in Rhode Island.
- Reproduction in a woman with low percentage t(21q21q) mosaicism.
- Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.
- A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
- Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
- Attitudes toward genetic testing for cystic fibrosis among college students.
- Point of view: Marfan syndrome: be aware of life-threatening complications.
- Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
- The role of new genetic technology in investigating autism and developmental delay.
- Genetic syndromes: from clinical suspicion to referral to diagnosis.
- Clinical significance of chimerism.
- Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
- Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes.
- Microcephaly syndromes.
- Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
- Pigmentary mosaicism and mosaic Turner syndrome.
- Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
- Adolescents and genetic testing: what do they think about it?
- Genetic evaluation and counseling for craniofacial anomalies.
- Impact of genetic diseases in Rhode Island.
Schools
NEW YORK UNIV SCH OF MED
Bellevue Hospital
Baltimore City Hospital
Boston Floating Hospital
Rhode Island Hospital
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
Accepted Insurances
Education
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Brown University -
Children's National Medical Center - George Washington University -
Tufts Medical Center -
Johns Hopkins Bayview Medical Center -
Georgetown University Hospital -
NYU School of Medicine
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