Medical Publications

Scientific publications related to PTLS can be found at the Baylor College of Medicine, Department of Molecular and Human Genetics website listed below:

Scientific publications related to PTLS can be found at the Baylor College of Medicine, Department of Molecular and Human Genetics website listed below:

• Inherited dup[17][p11.2p11.2]: Expanding the Phenotype of the Potocki-Lupski Syndrome – Clinical Report (newly added 1/15/2014) https://ptlsfoundation.org/sites/all/docs/PTLS_Adults_Report.pdf
• Brain and weight – call it: Correct developmental expression levels of Rail in forebrain neurons – required for control of body weight, activity levels, learning, memory – Published November 11, 2013 (newly added 1/15/2014) https://ptlsfoundation.org/sites/all/docs/Brain_Weight_Report.pdf
•  Cardiovascular phenotype in the duplication 17p11.2 syndrome. Jefferies JL, Pignatelli R, Martinez HR, Furman PJ, Pengfei Liu, Wenli Gu, Lupski JR, Potocki L, Genet Med, 14(1):90-4, 2012. http://www.nature.com/gim/journal/v14/n1/abs/gim0b013e3182329723a.html
• A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. Lacaria M. Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W,PloS Genet 8(5):e1002713. Epub May 2012.http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen….
•  Potocki-Lupski syndrome—A microduplication syndrome associated with oral pharyngeal dysphagia and failure to thrive. Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EJ, Zhang F, Lupski JR, Fraley K, Potocki L: J Pediatr 158:655-659.e2, 2011.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059370/
• The severe end of the spectrum: Hypolastic left heart in Potocki-Lupski syndrome. Sanchez-Valle A, Pierpont ME, Potocki L: Am J Med Genet A 155:363-6, 2011. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092288/
• Common recurrent microduplication syndromes: Diagnosis and management in clinical practice. Berg J, Potocki L, Bacino CA: Am J Med Genet 152A:1066-1078, 2010.http://www.ncbi.nlm.nih.gov/pubmed/20425813
• Identification of the predicted 5-Mb uncommon recurrent Potocki-Lupski syndrome associated duplication and the distribution of rearrangement types and mechanisms in PTLS. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Delicado Navarro A, Wheeler PG, Spence JE, Brasington CK, Withers MA, and Lupski JR: Am J Hum Genet 86:462-470, 2010.http://www.ncbi.nlm.nih.gov/pubmed/20188345
• Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). Treadwell-Deering DE, Powell P, Potocki L: J Dev Behav Pediatr 31:137-143, 2010.http://www.ncbi.nlm.nih.gov/pubmed/20110824
• Characterization of the Potocki-Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Potocki L, Bi W, Treadwell-Deering D, Carvalho CMB, Eifert A, Friedman E, Glaze D, Krull K, Lee JA, X, Lewis R Alan, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankewicz P, Lupski JR: Am J Hum Genet 80:633-649, 2007.http://www.ncbi.nlm.nih.gov/pubmed/17357070
• Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype and comparison to other proximal 17p segmental duplications. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L:Am J Med Genet A 138:175-180, 2005.http://www.ncbi.nlm.nih.gov/pubmed/16152635
• Trisomy 17p10-12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Stankiewicz P, Park S-S, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR: Clin Genet 60:336-344, 2001.http://www.ncbi.nlm.nih.gov/pubmed/11903333
• Molecular mechanism for dup17p11.2—the homologous recombination reciprocal of the Smith-Magenis microdeletion.  Potocki L, Chen K-S, Park S-S, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR: Nat Genet 24:84-87, 2000.http://www.ncbi.nlm.nih.gov/pubmed/10615134
• DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of carpal tunnel syndrome. Potocki L, Chen K-S, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR: Am J Hum Genet64:471-478, 1998.http://www.ncbi.nlm.nih.gov/pubmed/9973284
• Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
  Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Am J Med Genet A. 2012 Jul;158A(7):1579-88.
• Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects. Schmid M, Stary S, Blaicher W, Gollinger M, Husslein P, Streubel B. Prenat Diagn. 2012 Apr;32(4):376-82.
• Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism. Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Brain Dev. 2011 Dec 15.
• Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Am J Med Genet A. 2011 Feb;155A(2):367-71.
• Potocki-Lupski syndrome mimicking a connective tissue disorder. Martin J, Knight SJ, Sharp AJ, Eichler EE, Hurst J, Kini U. Clin Dysmorphol. 2008 Jul;17(3):211-3.
• Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Am J Med Genet A. 2008 Mar 1;146A(5):636-43.
• 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. Clin Genet. 2007 Jul;72(1):47-58
• Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Moog U, Engelen JJ, Weber BW, Van Gelderen M, Steyaert J, Baas F, Sijstermans HM, Fryns JP. Genet Couns. 2004;15(1):73-80.
• A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome. Balarin MA, da Silva Lopes VL, Varella-Garcia M (1999) Am J Med Genet 82: 183–186 http://www.ncbi.nlm.nih.gov/pubmed/9934986
• Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. Am J Med Genet. 1996 May 17;63(2):373-7.
• Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR (1996)  Hum Genet 97:642–649. http://www.ncbi.nlm.nih.gov/pubmed/8655146
• De novo duplication of 17p [dup(17)(p12rp11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic,and developmental aspects. Kozma C, Meck JM, Loomis KJ, Galindo HC (1991) Am J Med Genet 41:446–450 http://www.ncbi.nlm.nih.gov/pubmed/1776635
• De novo tandem duplication 17p11rcen. Docherty Z, Hulten MA, HoneymanMM(1983)J Med Genet 20:138–142 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049020/
• De novo partial duplication of 17p [dup(17)(p12rp11.2)]: clinical report. Magenis RE, Brown MG, Allen L, Reiss J (1986) Am J Med Genet 24:415–420 http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320240304/abstract