Physician

Medical Genetics

Dr. Erawati V. Bawle, MD

Erawati Bawle works in the field of Medical Genetics. She graduated from Grant Medical College. Erawati Bawle is a published doctor and has 45 publications published. The lastest was: 'Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.'

Publications

Toward better counseling for Down syndrome.
Duplication of the STS region in males is a benign copy-number variant.
An infant with myoclonic jerks, global developmental delay, and failure to thrive.
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
Growth spurt hypocalcemia.
Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
Evaluation of surgical intervention in familial isolated simple ectopia lentis: younger v. older generations.
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.
Autosomal dominant microcephaly with mental retardation.
Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-HÃƒÂ¼nermann syndrome).
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA.
Small bowel malrotation in each of a pair of identical twins.
Orthopaedic manifestations of Ehlers-Danlos syndrome.
Physiologic osteosclerosis versus osteopetrosis of the newborn.
Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.
Adult and two children with fetal methotrexate syndrome.
Hearing, language, speech, vestibular, and dentofacial disorders in fetal alcohol syndrome.
Spontaneous contraction of leukodermic patches in Waardenburg syndrome.
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
Acute lymphoblastic leukemia in a 46,XY/47,XYY mosaic male: clonal origin of leukemia in the XY-bearing stem-cell line.
Osteogenesis imperfecta vs. child abuse.
The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly.
Familial infantile olivopontocerebellar atrophy.
Nonimmune hydrops fetalis in Noonan's syndrome.
Early diagnosis of tyrosinemia type II.
Chronic coagulopathy in a patient with argininosuccinase deficiency.
Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.
Deletion of 2q37 and duplication of 10q24: two cases in the same family and review of the literature.
Arginine deficiency-induced hyperammonemia in a home total parenteral nutrition-dependent patient: a case report.
Special feature: picture of the month. Bannayan-Ruvalcaba-Riley syndrome.
Analphoid 3qter markers.
D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family.
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology.
Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?
''The cost and yield of evaluations for developmental delay/mental retardation''.
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Schools

University of Mumbai Topiwala National Medical College And Nair Hospital
Jj Gp Of Hosps

Doctors Specialties

Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

Grant Medical College

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