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RALPH CICCONE, MD
MD
Pulmonary Disease Physician
NPI: 1427007905Individual
Specialties, Licenses & Credentials
Pulmonary Disease PhysicianPrimary
Internal Medicine — Pulmonary Disease
Code: 207RP1001X
151919(NY)
Research & Publications (20)
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.
PMID 19364879·Nephrol Dial Transplant·2009
5-case
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
PMID 19484265·Hum Genet·2009
8-other
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
PMID 18854860·Eur J Hum Genet·2009
5-case
Inverted duplications deletions: underdiagnosed rearrangements??
PMID 19508415·Clin Genet·2009
6-review
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.
PMID 18813332·Eur J Hum Genet·2009
8-other
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
PMID 18337728·Eur J Hum Genet·2008
8-other
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
PMID 18278044·Nat Genet·2008
5-case
Evolutionary and clinical neocentromeres: two faces of the same coin?
PMID 18274768·Chromosoma·2008
8-other
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?
PMID 18213369·PLoS One·2008
7-preclinical
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
PMID 18006671·J Med Genet·2008
8-other
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
PMID 18178631·J Med Genet·2008
5-case
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
PMID 19040728·BMC Genomics·2008
8-other
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
PMID 18648397·Eur J Hum Genet·2008
5-case
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
PMID 18628315·J Med Genet·2008
8-other
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
PMID 18546282·Am J Med Genet A·2008
5-case
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
PMID 17941886·Clin Genet·2007
5-case
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
PMID 17911656·J Med Genet·2007
5-case
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
PMID 17766364·J Med Genet·2007
4-observational
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
PMID 17637806·Eur J Hum Genet·2007
4-observational
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
PMID 17262805·Hum Mutat·2007
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 501 SEAVIEW AVENUE, SUITE 102
STATEN ISLAND, NY 10305 - Phone
- (718) 980-5700
Quick Facts
- NPI
- 1427007905
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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