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PIERRE BITOUN, M.D.
M.D.
Pediatrics Physician
NPI: 1255495487Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
49271(MA)
Research & Publications (20)
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
PMID 19367324·Eur J Hum Genet·2009
7-preclinical
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
PMID 19181907·J Med Genet·2009
8-other
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
PMID 17273977·Am J Hum Genet·2007
8-other
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
PMID 17506106·Am J Med Genet A·2007
5-case
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
PMID 17468296·J Med Genet·2007
8-other
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
PMID 16700052·Am J Med Genet A·2006
5-case
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
PMID 16570074·Eur J Hum Genet·2006
8-other
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
PMID 15770229·Eur J Hum Genet·2005
8-other
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
PMID 15657609·Eur J Hum Genet·2005
7-preclinical
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
PMID 15779023·Am J Med Genet A·2005
5-case
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
PMID 15150779·Am J Med Genet A·2004
5-case
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
PMID 15114530·Am J Hum Genet·2004
5-case
ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report.
PMID 14661912·Doc Ophthalmol·2003
8-other
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
PMID 12676900·J Med Genet·2003
8-other
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
PMID 12075507·Am J Hum Genet·2002
8-other
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
PMID 12173028·Eur J Hum Genet·2002
8-other
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
PMID 11214907·Hum Genet·2001
8-other
CNGA3 mutations in hereditary cone photoreceptor disorders.
PMID 11536077·Am J Hum Genet·2001
7-preclinical
Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
PMID 10779849·Ophthalmic Genet·2000
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
- 56 HOBSON ST
BRIGHTON, MA 02135 - Phone
- (617) 783-9813
Quick Facts
- NPI
- 1255495487
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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