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HELGA TORIELLO, PHD
PHD
Ph.D. Medical Genetics
NPI: 1760487540Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
Research & Publications (20)
Evidence-based medicine and practice guidelines: application to genetics.
PMID 19621463·Am J Med Genet C Semin Med Genet·2009
6-review
Toriello-Carey syndrome phenotype and chromosome anomalies.
PMID 18074373·Am J Med Genet A·2008
4-observational
Statement on guidance for genetic counseling in advanced paternal age.
PMID 18496227·Genet Med·2008
8-other
List of presentations at Fifth International NTD conference.
PMID 18655125·Birth Defects Res A Clin Mol Teratol·2008
7-preclinical
Role of the dysmorphologic evaluation in the child with developmental delay.
PMID 18929053·Pediatr Clin North Am·2008
6-review
Evidence that macrocephaly and obesity may be dependent traits.
PMID 18000909·Am J Med Genet A·2007
8-other
Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?
PMID 11822700·Clin Dysmorphol·2002
5-case
Effect of the human genome project on the practice of adolescent medicine.
PMID 11986031·Adolesc Med·2002
6-review
Elements of morphology: standard terminology for the hands and feet.
PMID 19125433·Am J Med Genet A·2009
8-other
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
PMID 19170718·Clin Genet·2009
5-case
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).
PMID 17963258·Am J Med Genet A·2007
8-other
Indications for genetic referral: a guide for healthcare providers.
PMID 17575505·Genet Med·2007
6-review
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
PMID 17937441·Am J Med Genet A·2007
5-case
Oral-facial-digital syndromes: review and diagnostic guidelines.
PMID 17963220·Am J Med Genet A·2007
6-review
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
PMID 15746149·Hum Mol Genet·2005
8-other
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
PMID 15146186·Nat Genet·2004
4-observational
Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.
PMID 12114479·J Med Genet·2002
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
- 21 MICHIGAN ST NE, STE 465
GRAND RAPIDS, MI 49503 - Phone
- (616) 391-2701
Quick Facts
- NPI
- 1760487540
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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