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SHERRY WHATLEY, PH.D.
PH.D.
Clinical Psychologist
NPI: 1477619591Individual
Specialties, Licenses & Credentials
Clinical PsychologistPrimary
Psychologist — Clinical
Code: 103TC0700X
26885(TX)
Research & Publications (20)
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
PMID 19460837·Clin Chem·2009
8-other
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma--reply.
PMID 19673873·Br J Dermatol·2009
8-other
The molecular genetics of erythropoietic protoporphyria.
PMID 19656460·Cell Mol Biol (Noisy-le-grand)·2009
6-review
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
PMID 18787536·J Invest Dermatol·2009
8-other
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
PMID 18760763·Am J Hum Genet·2008
8-other
Symptomatic response of erythropoietic protoporphyria to iron supplementation.
PMID 17504727·J Am Acad Dermatol·2007
5-case
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
PMID 17711525·Br J Dermatol·2007
5-case
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
PMID 17597821·J Invest Dermatol·2007
8-other
Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma.
PMID 17300251·Br J Dermatol·2007
5-case
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.
PMID 16965328·Clin Genet·2006
5-case
Late-onset erythropoietic protoporphyria in association with haematological malignancy.
PMID 16901306·Clin Exp Dermatol·2006
5-case
Exonic deletions as a cause of erythropoietic protoporphyria.
PMID 16704762·Ann Clin Biochem·2006
5-case
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
PMID 16183801·J Med Genet·2006
8-other
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
PMID 16150949·Blood·2006
5-case
Early onset seizures and Rett-like features associated with mutations in CDKL5.
PMID 16015284·Eur J Hum Genet·2005
8-other
Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.
PMID 16151909·J Inherit Metab Dis·2005
8-other
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
PMID 16077736·Eur J Hum Genet·2005
8-other
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
PMID 15367913·Eur J Hum Genet·2005
4-observational
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
PMID 15491440·Br J Dermatol·2004
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
- 300 N MAIN ST
TAYLOR, TX 76574 - Phone
- (512) 365-2211
Quick Facts
- NPI
- 1477619591
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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