COMPENDIUM 231

When doing Thesis level research in our professional life we were guided by APA Rules on methodology and publication. It started with endless hours in the library pulling index cards, reading books and publications, and photocopying relevant material for inclusion into the formal documentation of our work product.

In today’s world the world wide web is our library and we have been hesitant to “copy” our sourced material. Why? Without this referencing no study stands the test of credibility, of proof. If our work product made it to publication we obtained commercial releases.

Below are references to studies that have guided our learning, our sharing as layperson’s. This next run through we will do our level best to photocopy all materials, and/or obtain public domain released copies *PDF or otherwise) and then include these in our thesis compendium.

Following international copyright laws and practices – we are not a commercial enterprise, take no compensation for our work. We are not only non-profit, we are a no-income endeavor. Our research into published literature is for personal use, guiding our personal communications. Those reading our collected materials must seek the original author(s), or their agent(s), authorization to republish or use the respective work product(s).

count: 231

  1. “Parkes Weber syndrome, Genetics Home Reference”.
  2. “RASA1 RAS p21 protein activator 1”.
  3. “A landscape-changing announcement for Alexandra Palace…” PROGRESS Wrestling – July 21, 2019 – Retrieved July 21, 2020 – via YouTube.
  4. “Arteriovenous Fistulas: Background, Pathophysiology, Etiology”.
  5. “capillary malformation-arteriovenous malformation syndrome, NIH Genetics Home Reference”.
  6. “Chapter 3” – Readprint.com – Retrieved 2018-11-05.
  7. “Classification | International Society for the Study of Vascular Anomalies” – issva.org – Archived from the original on 2018-03-29 – Retrieved 2018-09-23.
  8. “CLOVES Syndrome” – clovessyndrome.org.
  9. “CLOVES Syndrome” – National Organization for Rare Diseases – Archived from the original on April 2, 2015 – Retrieved 24 March 2015.
  10. “Facts About Glaucoma, NIH NEI”.
  11. “French National Cohort of Children With Port Wine Stain (CONAPE)”.
  12. “Human Phenotype Ontology”.
  13. “Klippel–Trenaunay syndrome” – Archived from the originalon July 4, 2013 – Retrieved May 15, 2014.
  14. “Norfolk girl recovers after half of brain ‘switched off'” – BBC News – 2011-05-20.
  15. “Parkes Weber Syndrome | Conditions + Treatments”.
  16. “Parkes Weber Syndrome | Symptoms and Causes, Boston Children’s Hospital”.
  17. “Parkes Weber Syndrome | Treatments”.
  18. “Parkes Weber syndrome, GTR”.
  19. “Parkes Weber syndrome, National Center for Advancing Translational Sciences”.
  20. “PIK3CA-related overgrowth spectrum” – rarediseases.info.nih.gov – National Institute of Health – Archived from the original on 2018-08-02 – Retrieved 2018-10-03.
  21. “po-ro-te-u” – Deaditerranean: Minoan Linear A & Mycenaean Linear B.
  22. “Proteus Supplements” – Proteus Supplements – Retrieved 2017-06-14.
  23. “Proteus syndrome” – US National Library of Medicine – July 7, 2020.
  24. “Proteus” – Random House Webster’s Unabridged Dictionary.
  25. “RASA1 gene RAS p21 protein activator 1”.
  26. “RASA1 gene RAS p21 protein activator 1”.
  27. “Search Results | Great Ormond Street Hospital”.
  28. “Sturge-Weber syndrome: Radiopaedia.org”.
  29. “The Community News” – Archived from the original on March 29, 2009 – Retrieved 2009-02-25.
  30. “The Lighthouse ending explained” – Mashable.
  31. “The Linear B Word po-ro-te-u” – Palaeolexicon – Word study tool of ancient languages.
  32. “The Sturge-Weber Foundation : Home”.
  33. Aaron DM – Sehorrheic keratoses – Merck Manual Professional Version – https://www.merckmanuals.com/professional/dermatologic-disorders/benign-skin-tumors,-growths,-and-vascular-lesions/seborrheic-keratoses – Revised May 2019 – Accessed March 25, 2020.
  34. Abdulhady, H; El-Sobky, TA; Elsayed, NS; Sakr, HM (11 June 2018) – “Clinical and imaging features of pedal macrodystrophia lipomatosa in two children with differential diagnosis review” – Journal of Musculoskeletal Surgery and Research – 2 (3): 130 – doi:10.4103/jmsr.jmsr_8_18 – S2CID 80970016.
  35. About K-T: Management and Treatments – Klippel Trenaunay (KT) Support Group – https://k-t.org/about-kt/management-and-treatments – Accessed 11/11/2014.
  36. Advanced management of congenital vascular malformations (CVM).Lee BB.Int Angiol. 2002 Sep;21(3):209-13.PMID: 12384638 Review.
  37. Advanced management of venous malformation with ethanol sclerotherapy: mid-term results.Lee BB, Do YS, Byun HS, Choo IW, Kim DI, Huh SH.J Vasc Surg. 2003 Mar;37(3):533-8. doi: 10.1067/mva.2003.91.PMID: 12618688 [Free article]
  38. Akhtar, M.A.; Campbell, D.J – (2008) – “Successful obstetrical management of a woman with Parkes–Weber syndrome” – European Journal of Obstetrics & Gynecology and Reproductive Biology – 140 (2): 290–1 – doi:10.1016/j.ejogrb.2008.03.001 – PMID 18439741.
  39. Alomari, AI; Thiex, R; Mulliken, JB (October 2010) – “Hermann Friedberg’s case report: an early description of CLOVES syndrome” – Clinical Genetics – 78 (4): 342–347 – doi:10.1111/j.1399-0004.2010.01479.x – PMID 21050185 – S2CID 21069670.
  40. Anderson S, Brooks SS – An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome – Adv Neonatal Care – October 2016; 16(5):347-359.
  41. Apollodorus, Bibliotheca 2.5.9
  42. Apollodorus, Bibliotheca 2.5.9
  43. Banzic; et al – (2017) – “Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review” – Phlebology – 32 (6): 371–383 – doi:10.1177/0268355516664212 – PMID 27511883.
  44. Barker, K T; Foulkes, WD; Schwartz, CE; Labadie, C; Monsell, F; Houlston, RS; Harper, J (2005) – “Is the E133K allele of VG5Q associated with Klippel–Trenaunay and other overgrowth syndromes?” – Journal of Medical Genetics – 43 (7): 613–4 – doi:10.1136/jmg.2006.040790 – PMC 2564558 – PMID 16443853.
  45. Barry M – Proteus syndrome – Medscape Reference – February, 2016; http://emedicine.medscape.com/article/948174.
  46. Bartoněk, Antonin (2002) – “Mycenaean words in Homer” – In Clairis, Christos (ed.) – Recherches en linquistique grecque – L’Harmattan – p – 94 – ISBN 2-7475-2742-5 – At Google Books.
  47. Bayrak-Toydemir P & Stevenson D – RASA1-Related Disorders – GeneReviews – 2016; http://www.ncbi.nlm.nih.gov/books/NBK52764/.
  48. Bayrak-Toydemir P, Stevenson DA. Capillary Malformation-Arteriovenous Malformation Syndrome. 2011 Feb 22 [updated 2019 Sep 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from http://www.ncbi.nlm.nih.gov/books/NBK52764/ Citation on PubMed
  49. Bayrak-Toydemir, Pinar; et al – “RASA1-Related Disorders”.
  50. Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, Hunter D. Klippel-Trenaunay syndrome. Am J Med Genet. 1998 Oct 2;79(4):319-26. Review. Citation on PubMed
  51. Bessis D, Vernhet H, Bigorre M, Quere I, Rossler J. Life-threatening cutaneous bleeding in childhood Klippel-Trenaunay syndrome treated with oral sirolimus. JAMA Dermatol. 2016;152(9):1058-1059.
  52. Black, Rosemary (May 19, 2009) – “What is Klippel–Trenaunay Syndrome? Brooklyn writer Carla Sosenko shares facts about condition” – New York Daily News.
  53. Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev. 2005 Jun;15(3):265-9. Review. Citation on PubMed
  54. Boston Childrens Hospital 2013 – “CLOVES Syndrome – Boston Children’s Hospital” – childrenshospital.org.
  55. Cabrera, Juan; Cabrera Jr, J; Garcia-Olmedo, MA; Redondo, P (2003) – “Treatment of Venous Malformations with Sclerosant in Microfoam Form” – Archives of Dermatology – 139 (11): 1409–16 – doi:10.1001/archderm.139.11.1409 – PMID 14623700.
  56. Calcium micro-depositions in jugular truncular venous malformations revealed by Synchrotron-based XRF imaging.Pascolo L, Gianoncelli A, Rizzardi C, Tisato V, Salomé M, Calligaro C, Salvi F, Paterson D, Zamboni P.Sci Rep. 2014 Oct 7;4:6540. doi: 10.1038/srep06540.PMID: 25286775 [Free PMC article]
  57. Castel P, Carmona FJ, Grego-Bessa J, et al. Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci Transl Med. 2016;8(332):332ra42.
  58. Children’s Hospital of Philadelphia – Hemihyperplasia – https://www.chop.edu/conditions-diseases/hemihyperplasia# – Reviewed March 2014 – Accessed March 25, 2020.
  59. Cite Share Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee.Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8.PMID: 26055853
  60. Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al – (1997) – “Macrocephaly with cutis marmorata, haemangioma and syndactyly–a distinctive overgrowth syndrome” – Clin Dysmorphol – 6 (4): 291–302 – doi:10.1097/00019605-199710000-00001 – PMID 9354837.
  61. CLOVES Syndrome Factsheet – CLOVES Syndrome Community – August 2011; http://www.clovessyndrome.org/sites/default/files/CSC_onepager.pdf.
  62. Cobb, Cynthia – “Telangiectasia (Spider Veins)”.
  63. Cohen, M – Michael (2000) – “Klippel–Trenaunay syndrome” – American Journal of Medical Genetics – 93 (3): 171–5 – doi:10.1002/1096-8628(20000731)93:3<171::AID-AJMG1>3.0.CO;2-K – PMID 10925375.
  64. Comi AM, Sahin M, Hammill A, Kaplan EH, Juhász C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol. 2016 May;58:12-24. doi: 10.1016/j.pediatrneurol.2015.11.009. Epub 2016 Mar 16. Citation on PubMed
  65. Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. Review. Citation on PubMed
  66. Congenital Lipomatous Overgrowth, Vascular Malformation, and Epidermal Nevi – OMIM – 8/2013; http://www.omim.org/entry/612918.
  67. Consensus Document of the International Union of Angiology (IUA)-2013. Current concept on the management of arterio-venous management.Lee BB, Baumgartner I, Berlien HP, Bianchini G, Burrows P, Do YS, Ivancev K, Kool LS, Laredo J, Loose DA, Lopez-Gutierrez JC, Mattassi R, Parsi K, Rimon U, Rosenblatt M, Shortell C, Simkin R, Stillo F, Villavicencio L, Yakes W; International Union of Angiology.Int Angiol. 2013 Feb;32(1):9-36.PMID: 23435389
  68. Contemporary diagnosis and management of venous and arterio-venous shunting malformation by whole body blood pool scintigraphy.Lee BB, Mattassi R, Kim BT, Kim YW, Ahn JM, Choi JY.Int Angiol. 2004 Dec;23(4):355-67.PMID: 15767981
  69. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al – (2007) – “Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients” – American Journal of Medical Genetics – 143A (24): 2981–3008 – doi:10.1002/ajmg.a.32040 – PMC 6816457 – PMID 18000912.
  70. Couto JA, Konczyk DJ, Vivero MP, et al – Somatic PIK3CA Mutations are Present in Multiple Tissues of Facial Infiltrating Lipomatosis – Pediatr Res – November, 2017; 82(5):850-854 – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645230/.
  71. Crunkhorn S. Nat Rev Drug Discov. 2018;17(8):545.
  72. Data on file – Novartis Pharmaceuticals Corp; 2020
  73. Del Campos Braojos F, Guimaraes CVA – Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure – Pediatr Radiol – 2018;48(8):1172-1177.
  74. Diagnosis and Treatment of Venous Malformations. Consensus Document of the International Union of Phlebology (IUP): updated 2013.Lee BB, Baumgartner I, Berlien P, Bianchini G, Burrows P, Gloviczki P, Huang Y, Laredo J, Loose DA, Markovic J, Mattassi R, Parsi K, Rabe E, Rosenblatt M, Shortell C, Stillo F, Vaghi M, Villavicencio L, Zamboni P; International Union of Phlebology.Int Angiol. 2015 Apr;34(2):97-149.PMID: 24566499
  75. Dueñas-Arias, JE.; Arámbula-Meraz, E.; Frías-Castro, LO.; Ramos-Payán, R.; Quibrera-Matienzo, JA.; Luque-Ortega, F.; Aguilar-Medina, EM – (Sep 2009) – “Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature” – Journal of Medical Case Reports – 3 (1): 9215 – doi:10.4076/1752-1947-3-9215 – PMC 2827170 – PMID 20210980.
  76. EL-Sobky TA, Elsayed SM, EL Mikkawy DME (2015) – “Orthopaedic manifestations of Proteus syndrome in a child with literature update” – Bone Rep – 3: 104–108 – doi:10.1016/j.bonr.2015.09.004 – PMC 5365241 – PMID 28377973.
  77. EL-Sobky TA, Elsayed SM, EL Mikkawy DME (2015) – “Orthopaedic manifestations of Proteus syndrome in a child with literature update” – Bone Rep – 3: 104–108 – doi:10.1016/j.bonr.2015.09.004 – PMC 5365241 – PMID 28377973.
  78. Emrick LT, Murphy L, Shamshirsaz AA, et al. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014;164A(10):2633-2637.
  79. Erener Ercan, T.; Oztunc, F.; Celkan, T.; Bor, M.; Kizilkilic, O.; Vural, M.; Perk, Y.; Islak, C.; Tuysuz, B – (Mar 2012) – “Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis” – J Child Neurol – 28 (1): 115–9 – doi:10.1177/0883073812439346 – PMID 22451530 – S2CID 206549770.
  80. Euripides, Helen 7 ff.
  81. Ezaki M – Insights into the pathogenesis of macrodactyly – J Hand Surg Eur Vol – 2019;44(1):25-31.
  82. Fernandez-Pineda I, David Marcilla D, Downey-Carmona FJ, et al – Lower extremity fibro-adipose vascular anomaly (FAVA): a new case of a newly delineated disorder – Ann Vasc Dis – 2014;7(3):316-319.
  83. Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L (2000) – “Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?” – American Journal of Medical Genetics – 90 (4): 265–9 – doi:10.1002/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S – PMID 10710221.
  84. Frequently Asked Questions – Compiled from doctors, families, and people with CLOVES – CLOVES Syndrome Community – February 2017; http://www.clovessyndrome.org/content/faqs.
  85. Fruman, David A.; Chiu, Honyin; Hopkins, Benjamin D.; Bagrodia, Shubha; Cantley, Lewis C.; Abraham, Robert T – (2017-08-10) – “The PI3K Pathway in Human Disease” – Cell – 170 (4): 605–635 – doi:10.1016/j.cell.2017.07.029 – ISSN 1097-4172 – PMC 5726441 – PMID 28802037.
  86. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007;22(6):291-8. Review. Citation on PubMed
  87. Graupera M, Guillermet-Guibert J, Foukas LC, Phng LK, Cain RJ, Salpekar A, Pearce W, Meek S, Millan J, Cutillas PR, Smith AJ, Ridley AJ, Ruhrberg C, Gerhardt H, Vanhaesebroeck B. Angiogenesis selectively requires the p110alpha isoform of PI3K to control endothelial cell migration. Nature. 2008 May 29;453(7195):662-6. doi: 10.1038/nature06892. Epub 2008 Apr 30. Citation on PubMed
  88. Graves, Robert (2012) – The Greek Myths – New York: Penguin – via Google Books.
  89. Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, and Keppler-Noreuil KM – Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation – American Journal of Medical Genetics – October 2016; 170(10):2559-2569 – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514817/.
  90. Guideline. Diagnosis and treatment of venous malformations. consensus document of the international union of phlebology (iup): updated-2013.Lee BB, Baumgartner I, Berlien P, Bianchini G, Burrows P, Gloviczki P, Huang Y, Laredo J, Loose DA, Markovic J, Mattassi R, Parsi K, Rabe E, Rosenblatt M, Shortell C, Stillo F, Vaghi M, Villavicencio L, Zamboni P.Int Angiol. 2014 Jun 10. Online ahead of print.PMID: 24961611 [
  91. Hafner C, López-Knowles E, Luis NM, Toll A, Baselga E, Fernández-Casado A, Hernández S, Ribé A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci U S A. 2007 Aug 14;104(33):13450-4. Epub 2007 Aug 2. Citation on PubMed or Free article on PubMed Central
  92. Hamburg classification system of Vascular Malformations; Andrew Murphy and Assoc Prof Frank Gaillard et al.; accessed 2021, April 20;
  93. Hartree, Naomi – “Parkes Weber’s Syndrome”.
  94. Helen Archived 2005-03-01 at the Wayback Machine, Euripides, Nottingham.
  95. Hemihyperplasia-multiple lipomatosis syndrome – Orphanet – https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 – Accessed 7/10/2018.
  96. Homer, Odyssey 4.360ff
  97. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998 Jan;73(1):28-36. Citation on PubMed
  98. Jacob, A G; Driscoll, D J; Shaughnessy, W J; Stanson, A W; Clay, R P; Gloviczki, P (1998) – “Klippel–Trenaunay syndrome: Spectrum and management” – Mayo Clinic Proceedings – 73 (1): 28–36 – doi:10.4065/73.1.28 – PMID 9443675.
  99. James, William; Berger, Timothy; Elston, Dirk (2005) – Andrews’ Diseases of the Skin: Clinical Dermatology (10th ed.) – Saunders – p – 585 – ISBN 978-0-7216-2921-6.
  100. Janniger CK. Klippel-Trenaunay-Weber Syndrome. Medscape Reference. 2016; http://reference.medscape.com/article/1084257-overview.
  101. Jump up to:a b c “Arteriovenous fistula, Mayo Clinic”.
  102. Jump up to:a b c Madsen, Ralitsa R.; Vanhaesebroeck, Bart; Semple, Robert K – (2018-09-06) – “Cancer-Associated PIK3CA Mutations in Overgrowth Disorders” (PDF) – Trends in Molecular Medicine – 24 (10): 856–870 – doi:10.1016/j.molmed.2018.08.003 – ISSN 1471-499X – PMC 6185869 – PMID 30197175.
  103. Jump up to:a b De Wijn, Robert S.; Oduber, Charlène E.U.; Breugem, Corstiaan C.; Alders, Marielle; Hennekam, Raoul C.M.; Van Der Horst, Chantal M.A.M – (2012) – “Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene” – European Journal of Medical Genetics – 55 (3): 191–5 – doi:10.1016/j.ejmg.2012.01.009 – PMID 22342634.
  104. Jump up to:a b Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML (2012) – “Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome” – Am – J – Hum – Genet – 90 (6): 1108–15 – doi:10.1016/j.ajhg.2012.05.006 – PMC 3370283 – PMID 22658544.
  105. Jump up to:a b Sunderkrishnan, MD, Ravi – “Genetics of Klippel-Trenaunay-Weber Syndrome”.
  106. Kabat J, Krol P – Focal cortical dysplasia – review – Pol J Radiol – 2012;77(2):35-43.
  107. Karim, Tanweer; Nanda, NavdeepS; Singh, Upvan (2014) – “A rare presentation of Klippel–Trenaunay syndrome” – Indian Dermatology Online Journal – 5 (2): 154–6 – doi:10.4103/2229-5178.131086 – PMC 4030342 – PMID 24860749.
  108. Keppler-Noreuil KM, Lozier J, Oden N, et al. Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. Am J Med Genet C Semin Med Genet. 2019;181(4):571-581.
  109. Keppler-Noreuil KM, Parker VER, Darling TN, and Martinez-Agosto JA – Somatic Overgrowth Disorders of the PI3K/mTOR Pathway & Therapeutic Strategies – American Journal of Medical Genetics Part C: Seminars in Medical Genetics – December 2016; 172(4):402-421 – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592089/.
  110. Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Dobyns W, and Biesecker LG – PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation – American Journal of Medical Genetics – February 2015; 167(2):287-295 – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480633/.
  111. Keppler-Noreuil KM, Rios JJ, Parker VER, et al – PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation – Am J Med Genet A – 2015;167A(2):287-295.
  112. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
  113. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
  114. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al – Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum – Am J Med Genet A – 2014;164A(7):1713-1733.
  115. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014;164A(7):1713-1733.
  116. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014;164A(7):1713-1733.
  117. Keppler-Noreuil, Kim M.; Rios, Jonathan J.; Parker, Victoria E – R.; Semple, Robert K.; Lindhurst, Marjorie J.; Sapp, Julie C.; Alomari, Ahmad; Ezaki, Marybeth; Dobyns, William (2014-12-24) – “PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation” – American Journal of Medical Genetics – Part A – 167A (2): 287–295 – doi:10.1002/ajmg.a.36836 – ISSN 1552-4833 – PMC 4480633 – PMID 25557259.
  118. Kihiczak GG, Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth. Int J Dermatol. 2006 Aug;45(8):883-90. Review. Citation on PubMed
  119. Klippel M, Trénaunay P (1900) – “Du naevus variqueux ostéohypertrophique” – Archives Générales de Médecine – 3: 641–72.
  120. Klippel-Tranaunay Syndrome – Genetics Home Reference – 2016; http://www.ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome.
  121. Klippel–Trenaunay syndrome: Spectrum and management
  122. Ko JM – Genetic syndromes associated with overgrowth in childhood – Ann Pediatr Endocrinol Metab – 2013;18(3):101-105.
  123. Koenraads Y, van Egmond-Ebbeling MB, de Boer JH, Imhof SM, Braun KP, Porro GL; SWS study group. Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort. Acta Ophthalmol. 2016 Nov;94(7):638-645. doi: 10.1111/aos.13074. Epub 2016 May 30. Review. Citation on PubMed
  124. Kuint, J.; Globus, O.; Ben Simon, GJ.; Greenberger, S – (2012) – “Macrocephaly-capillary malformation presenting with fetal arrhythmia” – Pediatr Dermatol – 29 (3): 384–6 – doi:10.1111/j.1525-1470.2011.01677.x – PMID 22329570.
  125. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 8;90(6):1108-15. doi: 10.1016/j.ajhg.2012.05.006. Epub 2012 May 31. Citation on PubMed or Free article on PubMed Central
  126. Kurek, KC.; Luks, VL.; Ayturk, UM.; Alomari, AI.; Fishman, SJ.; Spencer, SA.; Mulliken, JB.; Bowen, ME.; et al – (Jun 2012) – “Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome” – American Journal of Human Genetics – 90 (6): 1108–15 – doi:10.1016/j.ajhg.2012.05.006 – PMC 3370283 – PMID 22658544.
  127. Lalonde E, Ebrahimzadeh J, Rafferty K, et al. Molecular diagnosis of somatic overgrowth conditions: a single-center experience. Mol Genet Genomic Med. 2019;7(3):e536.
  128. Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329. Citation on PubMed or Free article on PubMed Central
  129. Lee Kulick, Daniel; et al – “Congestive Heart Failure (CHF) Symptoms, Stages, and Prognosis”.
  130. Lee, JH.; Huynh, M.; Silhavy, JL.; Kim, S.; Dixon-Salazar, T.; Heiberg, A.; Scott, E.; Bafna, V.; et al – (2012) – “De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly” – Nat Genet – 44 (8): 941–5 – doi:10.1038/ng.2329 – PMC 4417942 – PMID 22729223.
  131. Limaye N, Kangas J, Mendola A, et al – Somatic activating PIK3CA mutations cause venous malformation – Am J Hum Genet – 2015;97(6):914-921.
  132. Lindenauer, S – Martin (1965) – “The Klippel–Trenaunay Syndrome” – Annals of Surgery – 162 (2): 303–14 – doi:10.1097/00000658-196508000-00023 – PMC 1476812 – PMID 14327016.
  133. Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O’Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Citation on PubMed or Free article on PubMed Central
  134. Lindhurst, MJ.; Parker, VE.; Payne, F.; Sapp, JC.; Rudge, S.; Harris, J.; Witkowski, AM.; Zhang, Q.; et al – (2012) – “Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA” – Nat Genet – 44 (8): 928–33 – doi:10.1038/ng.2332 – PMC 3461408 – PMID 22729222.
  135. Lobo-Mueller E, Amaral JG, Babyn PS, Wang Q, John P. Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children. Semin Musculoskelet Radiol. 2009 Sep;13(3):255-76. doi: 10.1055/s-0029-1237692. Epub 2009 Sep 1. Review. Citation on PubMed
  136. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, and Murillo R – Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA – Journal of Pediatrics – April 2015; 166(4):1048-54 – http://www.ncbi.nlm.nih.gov/pubmed/25681199.
  137. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. Citation on PubMed or Free article on PubMed Central
  138. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. Citation on PubMed or Free article on PubMed Central
  139. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. Citation on PubMed or Free article on PubMed Central
  140. Lycophron, Alexandra 112
  141. Madsen RR, Vanhaesebroeck B, Semple RK. Cancer-associated PIK3CA mutations in overgrowth disorders. Trends Mol Med. 2018;24(10):856-870.
  142. Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A. 2010 Dec;152A(12):3101-6. doi: 10.1002/ajmg.a.33514. Citation on PubMed
  143. Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, et al – CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS) – Clin Genet – January, 2017; 91(1):14-21 – https://www.ncbi.nlm.nih.gov/pubmed/27426476.
  144. Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J – CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS) – Clin Genet – July 2016; [epub ahead of print]:
  145. McDonagh, B; Sorenson, S; Cohen, A; Eaton, T; Huntley, D E; La Baer, S; Campbell, K; Guptan, R C (2005) – “Management of venous malformations in Klippel–Trenaunay syndrome with ultrasound-guided foam sclerotherapy” – Phlebology – 20 (2): 63–81 – doi:10.1258/0268355054069188 – S2CID 71504108.
  146. McKusick, Victor A., MD – “Frederick Parkes Weber—1863-1962”.
  147. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.; Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB; Am J Med Genet A 2012 Feb;158A(2):269-91 – Epub 2012 Jan 6 doi: 10.1002/ajmg.a.34402 – PMID: 22228622
  148. Mendiratta, V; Koranne, RV; Sardana, K; Hemal, U; Solanki, RS (2004) – “Klippel trenaunay Parkes-Weber syndrome” – Indian Journal of Dermatology, Venereology and Leprology – 70 (2): 119–22 – PMID 17642585.
  149. Mhatre A, Nadkarni N, Patil S, Agarwal S – A case of benign lichenoid keratosis – Indian J Dermapathol Diagn Dermatol – 2015;2:49-51.
  150. Mirzaa G, Conway R, Graham JM Jr, Dobyns WB. PIK3CA-Related Segmental Overgrowth. 2013 Aug 15. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from http://www.ncbi.nlm.nih.gov/books/NBK153722/ Citation on PubMed
  151. Mirzaa G, Conway R, Graham JM Jr, Dobyns WB. PIK3CA-related segmental overgrowth. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2019.
  152. Mirzaa G, Conway R, Graham JM Jr, Dobyns WB. PIK3CA-related segmental overgrowth. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2019.
  153. Mirzaa G, Conway R,Graham JM, and Dobyns WB. – PIK3CA-Related Segmental Overgrowth – GeneReviews – August 15 2013; https://www.ncbi.nlm.nih.gov/books/NBK153722/.
  154. Mirzaa G, Conway R,Graham JM, and Dobyns WB. – PIK3CA-Related Segmental Overgrowth – GeneReviews – August 15 2013; https://www.ncbi.nlm.nih.gov/books/NBK153722/.
  155. Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb;158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6. Citation on PubMed
  156. Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):122-30. doi: 10.1002/ajmg.c.31361. Epub 2013 Apr 16. Citation on PubMed
  157. Mirzaa, GM.; Conway, RL.; Gripp, KW.; Lerman-Sagie, T.; Siegel, DH.; deVries, LS.; Lev, D.; Kramer, N.; et al – (Feb 2012) – “Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis” – American Journal of Medical Genetics – 158A (2): 269–91 – doi:10.1002/ajmg.a.34402 – PMID 22228622 – S2CID 25253301.
  158. Mneimneh S, Tabaja A, Rajab M (2015) – “Klippel-Trenaunay Syndrome with Extensive Lymphangiomas” – Case Rep Pediatr – 2015: 581394 – doi:10.1155/2015/581394 – PMC 4637471 – PMID 26587303.
  159. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al – (1997) – “Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities” – American Journal of Medical Genetics – 70 (1): 67–73 – doi:10.1002/(SICI)1096-8628(19970502)70:1<67::AID-AJMG13>3.0.CO;2-V – PMID 9129744.
  160. Nakate, Shashank – “Amoeba Facts.” BiologyWise – April 02, 2018 – Accessed February 07, 2019 – https://biologywise.com/amoeba-facts.
  161. National Institutes of Health – Epidermal nevus – Genetics home reference – https://ghr.nlm.nih.gov/condition/epidermal-nevus – Reviewed August 2016 – Accessed March 25, 2020.
  162. National Institutes of Health – Klippel-Trenaunay syndrome – Genetics home reference – https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome – Accessed March 20, 2020.
  163. National Institutes of Health. Klippel-Trenaunay syndrome. Genetics home reference. https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome. Accessed March 20, 2020.
  164. National Organization for Rare Disorders – Hemimegalencephaly – Rare disease database – https://rarediseases.org/rare-diseases/hemimegalencephaly/ – Accessed March 25, 2020.
  165. National Organization for Rare Disorders – Klippel-Trenaunay syndrome – Rare disease database – https://rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/ – Accessed March 24, 2020.
  166. National Organization for Rare Disorders – Lymphatic malformations – Rare disease database – https://rarediseases.org/rare-diseases/lymphatic-malformations/ – Accessed March 25, 2020.
  167. Newly Diagnosed – Proteus Syndrome Foundation – http://www.proteus-syndrome.org/newly-diagnosed.html.
  168. NINDS Klippel-Trenaunay Syndrome (KTS) Information Page – National Institute of Neurological Disorders and Stroke (NINDS) – September 30 2011; https://www.ninds.nih.gov/Disorders/All-Disorders/Klippel-Trenaunay-Syndrome-KTS-Information-Page.
  169. Novel Compliant Scaffold with Specific Design for Venous System: Results of a Porcine Model Study.Veroux P, Giaquinta A, Virgilio C, Zani DD, Ravasio G, Ardita V, Secchiero P, Scanziani E, Zamboni P, Veroux M.Biomed Res Int. 2018 Jan 31;2018:7312315. doi: 10.1155/2018/7312315. eCollection 2018.PMID: 29662897 Free PMC article.
  170. Parker VER, Keppler-Noreuil KM, Faivre L, et al. Genet Med. 2019;21(5):1189-1198.
  171. Parkes Weber syndrome – Children’s Hospital Boston – 2011; http://www.childrenshospital.org/conditions-and-treatments/conditions/parkes-weber-syndrome/overview.
  172. Parkes Weber syndrome – Genetics Home Reference – August 2011; http://ghr.nlm.nih.gov/condition/parkes-weber-syndrome.
  173. Parkes Weber syndrome – OMIM – 2018; http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355.
  174. Percutaneous sclerotherapy for venous malformations in the extremities: clinical outcomes and predictors of patient satisfaction.Nakamura M, Osuga K, Maeda N, Higashihara H, Hamada K, Hashimoto N, Uehara S, Tomiyama N.Springerplus. 2014 Sep 11;3:520. doi: 10.1186/2193-1801-3-520. eCollection 2014.PMID: 25332851 [Free PMC article]
  175. Petzold, A.; Bischoff, C.; Conrad, B – (2000) – “Repetitive cerebral bleeding in an adult with Klippel–Trenaunay syndrome” – Journal of Neurology – 247 (5): 389–391 – doi:10.1007/s004150050609 – PMID 10896274 – S2CID 35454693.
  176. Pherecydes fr – 136 (Fowler 2013, p – 42)
  177. PIK3CA gene – Genetics Home Reference – August 2016; https://ghr.nlm.nih.gov/gene/PIK3CA.
  178. PIK3CA gene – Genetics Home Reference (GHR) – August, 2016; https://ghr.nlm.nih.gov/gene/PIK3CA#conditions.
  179. Prevalence of various congenital vascular malformations in patients with Klippel-Trenaunay syndrome.Yamaki T, Konoeda H, Fujisawa D, Ogino K, Osada A, Hamahata A, Nozaki M, Sakurai H.J Vasc Surg Venous Lymphat Disord. 2013 Apr;1(2):187-93. doi: 10.1016/j.jvsv.2012.07.010. Epub 2012 Dec 17.PMID: 26992342
  180. Proteus syndrome – Genetics Home Reference (GHR) – June 2012; http://ghr.nlm.nih.gov/condition/proteus-syndrome – Accessed 5/12/2014.
  181. Pseudo-Clement, Recognitions 10.21
  182. Quinlan-Jones E, Williams D, Bell C, Miller C, Gokhale C, Kilby MD. Prenatal detection of PIK3CA-related overgrowth spectrum in cultured amniocytes using long-range PCR and next-generation sequencing. Pediatr Dev Pathol. 2017;20(1):54-57.
  183. Reference, Genetics Home – “Parkes Weber syndrome” – Genetics Home Reference – Retrieved 2019-01-21.
  184. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Citation on PubMed
  185. Rivière JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Citation on PubMed or Free article on PubMed Central
  186. Rivière JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Citation on PubMed or Free article on PubMed Central
  187. Rivière, JB.; Mirzaa, GM.; O’Roak, BJ.; Beddaoui, M.; Alcantara, D.; Conway, RL.; St-Onge, J.; Schwartzentruber, JA.; et al – (2012) – “De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes” – Nat Genet – 44 (8): 934–40 – doi:10.1038/ng.2331 – PMC 3408813 – PMID 22729224.
  188. Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA, Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de Sa Carvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ, Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, Schultz N, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network, Weinstein JN, Kwiatkowski DJ, Lerner SP. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2018 Aug 9;174(4):1033. doi: 10.1016/j.cell.2018.07.036. Citation on PubMed or Free article on PubMed Central
  189. Robertson SP, Gattas M, Rogers M, Adès LC (2000) – “Macrocephaly–cutis marmorata telangiectatica congenita: report of five patients and a review of the literature” – Clin Dysmorphol – 9 (1): 1–9 – doi:10.1097/00019605-200009010-00001 – PMID 10649789.
  190. Rodriguez-Laguna L, Ibanez K, Gordo G, et al – CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype – Genet Med – 2018;20(8):882-889.
  191. Rodriguez-Laguna L, Ibanez K, Gordo G, et al. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Genet Med. 2018;20(8):882-889.
  192. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (2007) – “Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients” – Am – J – Med – Genet – A – 143A (24): 2944–58 – doi:10.1002/ajmg.a.32023 – PMID 17963221 – S2CID 29578454.
  193. Scholia on Apollonius of Rhodes, Argonautica 1.929 (ed – Wendel)
  194. Scholia on Euripides, Hecuba 3
  195. Scholia on Euripides, Phoenissae 5
  196. Scholia on Homer, Iliad 9.383
  197. See also Nereus and Phorcys
  198. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8. Citation on PubMed or Free article on PubMed Central
  199. Shirley, Matthew D.; Tang, Hao; Gallione, Carol J.; Baugher, Joseph D.; Frelin, Laurence P.; Cohen, Bernard; North, Paula E.; Marchuk, Douglas A.; Comi, Anne M.; Pevsner, Jonathan (8 May 2013) – “Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in” – New England Journal of Medicine – 368 (21): 1971–9 – doi:10.1056/NEJMoa1213507 – PMC 3749068 – PMID 23656586.
  200. Stephanus of Byzantium, Ethnica s.v – Torōnē
  201. Strabo, Geographica 10.321 citing Pherecydes
  202. Sturge WA (1879) – “A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain” – Transactions of the Clinical Society of London – 12: 162.
  203. Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, and Wakamatsu N – The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS) – Oncotarget – July 11, 2017; 8(28):45470-45483 – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542201/.
  204. synd/1764 at Who Named It?
  205. synd/1812 at Who Named It?
  206. The Sturge-Weber Foundation. Klippel-Trenaunay Syndrome. http://www.sturge-weber.org/medical-matters/klippel-trenaunay-syndrome.html. Accessed 1/26/2015.
  207. Thomas Wolfe, Of Time and the River
  208. Thomas-Sohl, Kristin A; Vaslow, Dale F; Maria, Bernard L (May 2004) – “Sturge-Weber syndrome: A review” – Pediatric Neurology – 30 (5): 303–310 – doi:10.1016/j.pediatrneurol.2003.12.015 – PMID 15165630.
  209. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q (2004) – “Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome” (PDF) – Nature – 427 (6975): 640–5 – Bibcode:2004Natur.427..640T – doi:10.1038/nature02320 – PMC 1618873 – PMID 14961121 – Archived from the original (PDF) on December 9, 2006.
  210. Toriello HV, Mulliken JB (2007) – “Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)” – American Journal of Medical Genetics – 143A (24): 3009 – doi:10.1002/ajmg.a.31971 – PMID 17963258 – S2CID 6067902.
  211. Tzetzes, Chilliades 2.320
  212. Update on classification and diagnosis of vascular malformations; McCuaig CC
  213. Updated terminology of chronic venous disorders: the VEIN-TERM transatlantic interdisciplinary consensus document.Eklof B, Perrin M, Delis KT, Rutherford RB, Gloviczki P; American Venous Forum; European Venous Forum; International Union of Phlebology; American College of Phlebology; International Union of Angiology.J Vasc Surg. 2009 Feb;49(2):498-501. doi: 10.1016/j.jvs.2008.09.014.PMID: 19216970 [Free article]
  214. Vahidnezhad H, Youssefian L, and Uitto J – Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS) – Experimental Dermatology – Januaray 2016; 25(1):17-19 – http://www.ncbi.nlm.nih.gov/pubmed/26268729.
  215. Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016 Jan;25(1):17-9. doi: 10.1111/exd.12826. Epub 2015 Oct 13. Citation on PubMed
  216. Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016 Jan;25(1):17-9. doi: 10.1111/exd.12826. Epub 2015 Oct 13. Citation on PubMed
  217. Venot Q, Blanc T, Rabia SH, et al. Nature. 2018;558(7711):540-546.
  218. Venot, Quitterie; Blanc, Thomas; Rabia, Smail Hadj; Berteloot, Laureline; Ladraa, Sophia; Duong, Jean-Paul; Blanc, Estelle; Johnson, Simon C.; Hoguin, Clément (2018-06-13) – “Targeted therapy in patients with PIK3CA-related overgrowth syndrome” – Nature – 558 (7711): 540–546 – Bibcode:2018Natur.558..540V – doi:10.1038/s41586-018-0217-9 – ISSN 1476-4687 – PMID 29899452 – S2CID 49189779.
  219. Venous malformation: update on aetiopathogenesis, diagnosis and management.Dompmartin A, Vikkula M, Boon LM.Phlebology. 2010 Oct;25(5):224-35. doi: 10.1258/phleb.2009.009041.PMID: 20870869 Free PMC article. [Free PMC article]
  220. Wang, Q.; Timur, A.A.; Szafranski, P.; Sadgephour, A.; Jurecic, V.; Cowell, J.; Baldini, A.; Driscoll, D.J – (2001) – “Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome” – Cytogenetic and Genome Research – 95 (3–4): 183–8 – doi:10.1159/000059343 – PMC 1579861 – PMID 12063397.
  221. Weber FP (1907) – “Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy” – British Journal of Dermatology – 19: 231–5.
  222. Weber FP (1918) – “Hemangiectatic hypertrophy of limbs – congenital phlebarteriectasis and so-called congenital varicose veins” – British Journal of Children’s Diseases – 25: 13.
  223. Weber FP (1922) – “Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms” – Journal of Neurology and Psychopathology – London – 3 (10): 134–9 – doi:10.1136/jnnp.s1-3.10.134 – PMC 1068054 – PMID 21611493.
  224. Wilson, Nigel (2006) – Encyclopedia of Ancient Greece – New York: Routledge – p – 36 – via Google Books.
  225. Wordsworth Archived 2006-06-23 at the Wayback Machine
  226. Yano S, Watanabe Y (2001) – “Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome” – American Journal of Medical Genetics – 102 (2): 149–52 – doi:10.1002/ajmg.1428 – PMID 11477607.
  227. Zaki, Syed Ahmed; Vijay Lad (July 2011) – “Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification” – Journal of Pediatric Neurosciences – 6 (2): 114–5 – doi:10.4103/1817-1745.92825 (inactive 2021-01-17) – PMC 3296402 – PMID 22408657.
  228. Zenodotus in scholia on Homer, Odyssey 4.366
  229. Zhao L, Vogt PK. Class I PI3K in oncogenic cellular transformation. Oncogene. 2008 Sep 18;27(41):5486-96. doi: 10.1038/onc.2008.244. Review. Citation on PubMed or Free article on PubMed Central
  230. Zhao L, Vogt PK. Hot-spot mutations in p110alpha of phosphatidylinositol 3-kinase (pI3K): differential interactions with the regulatory subunit p85 and with RAS. Cell Cycle. 2010 Feb 1;9(3):596-600. Citation on PubMed or Free article on PubMed Central
  231. Zhou, Q.; Zheng, J.W – (2009) – “Research advances in relationship between RASA1 and vascular anomalies” – International Journal of Oral and Maxillofacial Surgery – 38 (5): 598 – doi:10.1016/j.ijom.2009.03.703.
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