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PAUL LAPUNZINA, MD
MD
Thoracic Surgery (Cardiothoracic Vascular Surgery) Physician
NPI: 1720152333IndividualAccepts Medicare
Specialties, Licenses & Credentials
Thoracic Surgery (Cardiothoracic Vascular Surgery) PhysicianPrimary
Thoracic Surgery (Cardiothoracic Vascular Surgery)
Code: 208G00000X
G85362(CA)
Education
OTHER
Class of 1992
Research & Publications (20)
A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.
PMID 15602758·Birth Defects Res A Clin Mol Teratol·2005
8-other
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
PMID 15368495·Am J Med Genet A·2004
5-case
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.
PMID 14580232·Mol Diagn·2003
5-case
Risks of congenital anomalies in large for gestational age infants.
PMID 11865271·J Pediatr·2002
8-other
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?
PMID 11484203·Am J Med Genet·2001
5-case
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
PMID 19490635·BMC Med Genet·2009
5-case
CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.
PMID 19386358·Placenta·2009
5-case
Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality.
PMID 19530191·Am J Med Genet A·2009
5-case
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
PMID 18454448·Hum Mutat·2008
8-other
[Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case].
PMID 18559200·An Pediatr (Barc)·2008
5-case
Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.
PMID 18798326·Am J Med Genet A·2008
5-case
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
PMID 18384142·Am J Med Genet A·2008
5-case
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
PMID 17366577·Am J Med Genet A·2007
4-observational
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
PMID 17431908·Am J Med Genet A·2007
5-case
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
PMID 16329078·Am J Med Genet A·2006
8-other
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.
PMID 17103452·Am J Med Genet A·2006
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
- 2200 OFARRELL ST
SAN FRANCISCO, CA 94115 - Phone
- (415) 833-2000
Quick Facts
- NPI
- 1720152333
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 34
- Publications
- 20
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