Professor, Pediatrics, UCSD School of Medicine
Medical Genetics
Dr. Lynne M. Bird, MD
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Lynne Bird works in the field of Medical Genetics. He attended Duke University School of Medicine. Duke University School of Medicine is a one of the best medicals schools. Duke University School of Medicine is ranked 8 in research and 29 in primary care medicine He over the years received 4 awards: "Top Doctors:San Diego Area", "Top Doctors:Southern California", "Fellow (FAAP)" and "Super Doctor". Lynne Bird is also a published doctor. He has 49 publication published. The most recent publication is: Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human.
Publications
- Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
- Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection.
- Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
- Growth charts for 22q11 deletion syndrome.
- A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.
- Hoffman syndrome: New patients, new insights.
- Angelman syndrome: Mutations influence features in early childhood.
- A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
- Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
- Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report.
- Expanding the phenotype of mosaic trisomy 20.
- Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
- Digitocutaneous dysplasia.
- Sjögren-Larsson syndrome: a case report and literature review.
- Neonatal phenotype in Kabuki syndrome.
- Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?
- Marfanoid habitus with abnormal situs.
- Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
- Angelman syndrome: review of clinical and molecular aspects.
- Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p.
- Cortical dysgenesis and 22q11 deletion.
- Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
- Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human.
- Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation.
- Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.
- Heritability of X chromosome--inactivation phenotype in a large family.
- X-linked situs abnormalities result from mutations in ZIC3.
- Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.
- Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18.
- Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome.
- Anterior cervical hypertrichosis: a dominantly inherited isolated defect.
- Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
- Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature.
- Sudden death in Williams syndrome: report of ten cases.
- Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
- Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline.
- Anencephaly with holoprosencephalic facies due to ring chromosome 18.
- Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
- Natural history of prenatally diagnosed 46,X,isodicentric Y.
- Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
- Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.
- Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.
- Vertically transmitted hypoplasia of the abdominal wall musculature.
- A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.
- Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
- Femoral facial syndrome: a case report with coexistent hydrocephaly.
- Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.
Schools
Duke University
UCSD
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Power Select HMO
- Blue Card PPO
- CaliforniaCare HMO
- Advantage Preferred DirectAccess Plus PPO
- Blue Cross Blue Shield of California PPO
- Pathway X Direct Access PPO
- Pathway X Guided Access HMO
- Pathway X Tiered Direct Access
- Priority Select HMO
- Select Plus HMO
- Access Plus Savenet
- Basic Exclusive PPO for Small Business
- Basic PPO
- Enhanced Exclusive for Small Business HMO
- Cigna HMO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- GEHA
- Blue & Gold HMO
- Covered California - Bronze PPO
- Employer Group HMO
- Health Net PPO
- Individual and Family PPO
- Medicare Advantage PFFS
- SmartCare HMO
- WholeCare Network HMO
- Medicaid
- Medicare MCR
- Molina
- Kaiser PHCS Network PPO
- MultiPlan PPO
- PHCS Network PPO
- Heritage Signature
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- PacifiCare HMO
- United Healthcare
Awards
- Top Doctors:San Diego Area
- Top Doctors:Southern California
- Fellow (FAAP)
- Super Doctor
Education
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University of California San Diego -
Duke University School of Medicine
Hospital
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Rady Children's Hospital - San Diego
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