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LORRAINE POTOCKI, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1063592483Individual
Specialties, Licenses & Credentials
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
K1623(TX)
Research & Publications (20)
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
PMID 17357070·Am J Hum Genet·2007
4-observational
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
PMID 10851253·J Med Genet·2000
8-other
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
PMID 10615134·Nat Genet·2000
8-other
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
PMID 19346217·J Med Genet·2009
8-other
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
PMID 19289393·J Med Genet·2009
8-other
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.
PMID 19215052·Am J Med Genet A·2009
5-case
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
PMID 18812404·J Med Genet·2009
7-preclinical
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.
PMID 18184943·J Child Neurol·2008
5-case
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
PMID 17041942·Am J Med Genet A·2006
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 1504 TAUB LOOP
HOUSTON, TX 77030 - Phone
- (713) 873-8890
Quick Facts
- NPI
- 1063592483
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 2
- Publications
- 20
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