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ROSE VARON, M.D.
M.D.
Pediatrics Physician
NPI: 1427004720Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
168267(NY)
Research & Publications (20)
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
PMID 17103455·Am J Med Genet A·2007
5-case
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
PMID 16415040·Hum Mol Genet·2006
5-case
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
PMID 14517542·Nat Genet·2003
8-other
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes.
PMID 14738145·Leuk Lymphoma·2003
8-other
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
PMID 11325820·Cancer Res·2001
8-other
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
PMID 11093281·Eur J Hum Genet·2000
8-other
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
PMID 19262743·Mol Vis·2009
5-case
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
PMID 19409520·Am J Hum Genet·2009
5-case
Stereospecific inactivation of tyrosinase by L- and D-ascorbic acid.
PMID 19010454·Biochim Biophys Acta·2009
8-other
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
PMID 18802676·J Mol Med (Berl)·2009
5-case
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
PMID 18334946·Mol Vis·2008
8-other
Mean lifetime and first-passage time of the enzyme species involved in an enzyme reaction. Application to unstable enzyme systems.
PMID 18506541·Bull Math Biol·2008
8-other
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
PMID 18587493·Mol Vis·2008
8-other
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
PMID 18263757·J Child Neurol·2008
8-other
Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
PMID 18187479·J Neurol Neurosurg Psychiatry·2008
8-other
Nijmegen Breakage Syndrome mutations and risk of breast cancer.
PMID 17957789·Int J Cancer·2008
4-observational
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
PMID 17893674·Mol Vis·2007
8-other
Cancer risk of heterozygotes with the NBN founder mutation.
PMID 18073374·J Natl Cancer Inst·2007
8-other
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
PMID 18079676·Mol Vis·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 728 N MAIN ST
NEW SQUARE, NY 10977 - Phone
- (845) 354-9300
Quick Facts
- NPI
- 1427004720
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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