Physician

Medical Genetics

Doctor Nancy E. Braverman, MD practices Medical Genetics. He graduated from Tulane University School of Medicine. Nancy E. Braverman is also published. He has 56 publications published. The lastest publication: "An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.'

Publications

---

• Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
• Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
• The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder.
• Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
• Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.
• In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasm...
• Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
• Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
• Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.
• Characteristic MR imaging changes in severe hypermethioninemic states.
• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
• Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
• PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
• An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
• Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
• From expressed sequence tags to peroxisome biogenesis disorder genes.
• Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.
• A point mutation associated with a severe phenotype of neurofibromatosis 2.
• The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
• Disorders of peroxisome biogenesis.
• Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
• Would provision of child care for nurses with young children ensure response to call-up during a wartime disaster? An Israeli hospital nursing survey.
• Would provision of childcare for nurses with young children ensure response to a call-up during a wartime disaster? An Israeli hospital nursing survey.
• The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
• Cervical stenosis secondary to rhizomelic chondrodysplasia punctata.
• CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
• The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.
• A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
• Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.
• Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
• A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
• Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
• Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
• Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
• Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
• Diagnostic guidelines for newborns who screen positive in newborn screening.
• Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.
• Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
• Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
• A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
• Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.
• Progressive cavitating leukoencephalopathy: a novel childhood disease.
• Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
• Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
• The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
• Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imaging.
• Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.
• Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical...
• Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
• A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
• Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
• Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
• Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
• A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
• Peroxisome biogenesis disorders.

Schools

---

• Tulane University of Louisiana

• Sinai Hospital Of Baltimore

• Yale New Haven Chldn Center

• Yale New Haven Hospital

Doctors Specialties

---

• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

---

• MultiPlan PPO

Education

---

• Sinai Hospital of Baltimore
• Yale-New Haven Hospital
• Yale New Haven Children's Center
• Tulane University School of Medicine

Helpful Reviews

---

Give Anonymous Review

Similar Doctors

---

	Laura L. Hammitt
	Dr. Myrna C. Montilla, MD
	Dr. Jeffrey M. Chinsky, MD This Doctor is OpenDoctor Recommended.
	Dr. Linda J. Jeng, MD This Doctor is OpenDoctor Recommended.
	Dr. Jessica B. Duis, MD This Doctor is OpenDoctor Recommended.
	Dr. Michelle M. Gontasz, MD
	Dr. Vera J. Burton, MD This Doctor is OpenDoctor Recommended.
	Dr. Taiwo O. Lawoyin, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Hilary J. Vernon, MD This Doctor is OpenDoctor Recommended.
	Dr. Thomas P. Krupica Jr., MD This Doctor is OpenDoctor Recommended.
	Dr. David Valle, MD This Doctor is OpenDoctor Recommended.
	Dr. Gregg Semenza, MD This Doctor is OpenDoctor Recommended.
	Dr. Nicole M. Salazar-Austin, MD
	Dr. Teresa Martino, DO
	Dr. Nazli B. McDonnell, MD This Doctor is OpenDoctor Recommended.
	Dr. Miriam G. Blitzer, PHD
	Dr. Ronald D. Cohn, MD
	Dr. Jill A. Fahrner, MD This Doctor is OpenDoctor Recommended.
	Dr. Lisa E. Kratz, PHD
	Dr. Melissa L. Russo, MD
	Raymond Kratochvil Jr.
	Ying Zou

---

Doctor Directory | TOS | twitter | FB | Angel | blog