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SANDRA REGIS, PH.D.
PH.D.
Psychologist
NPI: 1760533178Individual
Specialties, Licenses & Credentials
PsychologistPrimary
Psychologist
Code: 103T00000X
11300(NY)
Research & Publications (20)
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
PMID 19634183·Hum Mutat·2009
7-preclinical
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
PMID 18758829·Neurogenetics·2009
8-other
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
PMID 19376225·Biochim Biophys Acta·2009
8-other
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.
PMID 17964840·Mol Genet Metab·2008
5-case
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
PMID 18693274·Hum Mutat·2008
7-preclinical
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
PMID 18190592·Clin Genet·2008
8-other
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
PMID 17397052·Hum Mutat·2007
8-other
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
PMID 16699754·J Mol Med (Berl)·2006
8-other
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.
PMID 16297882·Biochem Biophys Res Commun·2006
8-other
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
PMID 15690354·Am J Med Genet A·2005
5-case
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
PMID 16140556·Mol Genet Metab·2005
4-observational
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
PMID 15832315·Hum Mutat·2005
8-other
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.
PMID 15827763·Neurogenetics·2005
8-other
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
PMID 15221801·Hum Mutat·2004
8-other
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
PMID 14571263·Eur J Hum Genet·2004
8-other
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
PMID 12579417·Hum Genet·2003
5-case
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
PMID 12794697·Am J Med Genet A·2003
5-case
Long-term follow-up of children with chronic relapsing polyneuropathy.
PMID 11992757·Pediatr Neurol·2002
5-case
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene.
PMID 12592703·DNA Seq·2002
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 19 HILL ST
GOSHEN, NY 10924 - Phone
- (845) 294-9139
Quick Facts
- NPI
- 1760533178
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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