MadeleineHarbisonMD

PubMed

• 3 citations
  Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
  Jose Ramón Fernández-Fructuoso, Cristina De la Torre-Sandoval, Madeleine D. Harbison, Sandra Chantot-Bastaraud, Karen Temple
  Clinical Dysmorphology. 2021-10-01
• 2 citations
  Silver-Russell Syndrome
  Howard M. Saal, Madeleine D. Harbison, Irène Netchine
  Headache: The Journal of Head and Face Pain. 2019-10-21
• 24 citations
  Transcriptional Profiling at the DLK1/MEG3 Domain Explains Clinical Overlap Between Imprinting Disorders
  Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart
  Science Advances. 2019-02-01

Journal Articles

• Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p155 duplications with associated phenotypes and putative functional consequences  
  Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Tri..., J Med Genet, 1/1/2018
• Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome  
  Lemoine A, Harbison MD, Salem J, Tounian P, Netchine I, Dubern B, J Pediatr Gastroenterol Nutr, 1/1/2018
• Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction  
  Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, Salem J, Yuen T, Azzi S, Le Bouc Y, Harbison MD, Netchine I, Genet Med, 1/1/2018
• Chromosome 14q322 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome  
  Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Canton AP, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Genevi�ve D, Heide..., J Clin Endocrinol Metab, 1/1/2018
• Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction  
  Chantot-Bastaraud Sandra, Stratmann Svea, Brioude Frederic, Begernann Matthias, Elbracht, Miriam, Graul-Meumann Luitguard, Harbison, Madeleine, Netchine Irene, Eggerma..., Molecular Cytogenetics, 1/25/2017
• 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome  
  Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I, Hum Mutat, 1/1/2017
• A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance  
  Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI, Ann N Y Acad Sci, 1/20/2015
• A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome  
  Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD, J Med Genet, 1/1/2015
• Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation  
  Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, Jule ML, Brachet C, Heinrichs C, Bouc YL, Netchine I, Hum Mutat, 1/1/2014
• Iatrogenic Creutzfeldt-Jakob disease from commercial cadaveric human growth hormone  
  Appleby BS, Lu M, Bizzi A, Phillips MD, Berri SM, Harbison MD, Schonberger LB, Emerg Infect Dis, 1/1/2013
• Prospective safety surveillance of GH-deficient adults: comparison of GH-treated vs untreated patients  
  Hartman ML, Xu R, Crowe BJ, Robison LL, Erfurth EM, Kleinberg DL, Zimmermann AG, Woodmansee WW, Cutler GB Jr, Chipman JJ, Melmed S; International HypoCCS Advisory Board, J Clin Endocrinol Metab, 1/1/2013
• Growth hormone treatment in children with congenital adrenal hyperplasia  
  Harbison MD, Lin-Su K, New MI, Adv Exp Med Biol, 1/1/2011
• Occurrence of impaired fasting glucose in GH-deficient adults receiving GH replacement compared with untreated subjects  
  Woodmansee WW, Hartman ML, Lamberts SW, Zagar AJ, Clemmons DR; International HypoCCS Advisory Board, Clin Endocrinol (Oxf), 1/1/2010
• Aortic distensibility and dilation in Turner's syndrome  
  Sharma J, Friedman D, Dave-Sharma S, Harbison M, Cardiol Young, 1/27/2009
• Predictors of first-year growth response to a fixed-dose growth hormone treatment in children born small for gestational age: results of an open-label, multicenter tri...  
  Rapaport R, Saenger P, Wajnrajch MP; Pfizer SGA Collaborative Study Group, J Pediatr Endocrinol Metab, 1/1/2008
• Meier-Gorlin syndrome: report of eight additional cases and review  
  Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV, Am J Med Genet, 1/1/2001
• Thoracolumbar accessory penis: etiology, diagnosis, and management  
  Ostad M, Mininberg DT, Harbison M, Magid MS, Urology, 1/1/1999
• Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation  
  Zoppi S, Wilson CM, Harbison MD, Griffin JE, Wilson JD, McPhaul MJ, Marcelli M, J Clin Invest, 1/1/1993
• Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?  
  Harrison HH, Miller KL, Harbison MD, Slonim AE, Clin Chem, 1/1/1992
• Ileal adenomas after colectomy in nine patients with adenomatous polyposis coli/Gardner's syndrome  
  Hamilton SR, Bussey HJ, Mendelsohn G, Diamond MP, Pavlides G, Hutcheon D, Harbison M, Shermeta D, Morson BC, Yardley JH, Gastroenterology, 1/1/1979
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