Physician

Pediatrics

Pierre Bitoun is an expert in the field of Pediatrics. Pierre Bitoun is a published doctor. He has 44 publications published. The most current publication "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD."

Publications

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• Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.
• Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
• Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
• Identification of CANT1 mutations in Desbuquois dysplasia.
• BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
• Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
• The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood synd...
• Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with la...
• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung h...
• CHD7 gene and non-syndromic cleft lip and palate.
• Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X...
• SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
• Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
• Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
• Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
• AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
• ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report.
• Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
• Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
• CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
• CNGA3 mutations in hereditary cone photoreceptor disorders.
• Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
• Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
• Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
• A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
• Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
• Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
• Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
• Diffuse severe digestive angiodysplasia in Bernard-Soulier syndrome. Improvement of bleeding by oestroprogestative therapy.
• About the French language breastfeeding literature.
• Genetic heterogeneity of Usher syndrome type 1 in French families.
• Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.
• Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
• Wolfram syndrome. A report of four cases and review of the literature.
• Glaucoma with a Larsen-like syndrome.
• The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature.
• Picture of the mouth. Encephalocraniocutaneous lipomatosis.
• A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature.
• A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers.
• Incontinentia pigmenti (type 1) and X;5 translocation.
• A new look at the management of the oculo-mandibulo-facial syndrome.

Schools

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• Ufr Medicale Paris IleDeFrance Ouest Universite Versailles SaintQuentinEnYvelines Uvsq

• Boston Fltg Hospital

Doctors Specialties

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• Pediatrics

Accepted Insurances

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Education

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• Tufts Medical Center

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