Physician

Medical Genetics

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

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• 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-Hünermann 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

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• University of Mumbai Topiwala National Medical College And Nair Hospital

• Jj Gp Of Hosps

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• Grant Medical College

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