BertEBachrachMD

PubMed

• Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm t...
  Jonathan Seigel, David A Weinstein, Richard Hillman, Brooke Colbert, Belinda Matthews, Bert Bachrach> ;Journal of pediatric endocrinology & metabolism : JPEM. 2020 Oct 22
• 1 citations
  Diagnostic challenges and considerations of cyclical Cushing’s syndrome in a 15-year-old female
  Melissa L. An, Landon Hendricks, Bert Bachrach> ;Pediatric Endocrinology, Diabetes, and Metabolism. 2020 Jan 1
• 11 citations
  A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.
  Christina Tatsi, Paraskevi Xekouki, Olga Nioti, Bert Bachrach, Elena Belyavskaya, Charalampos Lyssikatos, Constantine A. Stratakis> ;Journal of Hypertension. 2019 Jul 1
• 63 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen G. Kah...> ;Genetics in Medicine. 2019 Jan 19
• 2 citations
  Validation of HbA1c of 6.5% for Diagnosing Diabetes Mellitus via the Use of Taxometric Analysis
  David G. Ingram, Bert Bachrach> ;Annals of Epidemiology. 2012 Jan 1
• 10 citations
  U.S. News and World Report's rankings of the top 50 children's hospitals for diabetes and endocrinology reflect reputation more than objective measures
  David G Ingram, Bert Bachrach> ;Journal of Pediatric Endocrinology & Metabolism. 2011 Jan 1
• 42 citations
  A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding ...
  Nancy Nader, Bert Bachrach, Darrell E. Hurt, Sonia Gajula, Amy Pittman, Rachel Lescher, Tomoshige Kino> ;The Journal of Clinical Endocrinology and Metabolism. 2010 May 1
• 12 citations
  I-131 treatment of graves' disease in an unsuspected first trimester pregnancy; the potential for adverse effects on the fetus and a review of the current guidelines f...
  Phuong Tran, Shane DeSimone, Mark Barrett, Bert Bachrach> ;International Journal of Pediatric Endocrinology. 2010 Mar 2
• 6 citations
  An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.
  Jamie L. Odem, Ethan Munzinger, Sarah Violand, Amie M van Morlan, Danita Rife, Bert Bachrach> ;Pediatric Diabetes. 2009 Jun 10
• 2 citations
  Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm t...
  Jonathan Seigel, David A Weinstein, Richard Hillman, Brooke Colbert, Belinda Matthews, Bert Bachrach> ;Journal of Pediatric Endocrinology & Metabolism. 2008 Jun 1
• 50 citations
  Impact on Bone of an Estrogen Receptor-α Gene Loss of Function Mutation
  Eric P. Smith, Bonny Specker, Bert E. Bachrach, K. S. Kimbro, Xinning Li, Marian F. Young, Neal S. Fedarko, M. J. Abuzzahab, Graeme R. Frank, Robert M. Cohen, Dennis B...> ;The Journal of Clinical Endocrinology and Metabolism. 2008 May 27
• 20 citations
  RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds
  Elizabeth A. Fialkowski, Mary K. DeBenedetti, Jeffrey F. Moley, Bert Bachrach> ;Journal of Pediatric Surgery. 2008 Jan 1
• 20 citations
  Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
  Bert E. Bachrach, David A. Weinstein, Marju Orho-Melander, Anne Burgess, Joseph I. Wolfsdorf> ;The Journal of Pediatrics. 2002 Jun 1
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