Scientific Publications

This list has been compiled from several different sources for easy reference on articles concerning CFC syndrome, or other topics relevant to understanding this disorder. If you wish copies of any articles, some can be found free online and some you can read an abstract of the article and the full article can be ordered online for a fee. Most can be found at university medical libraries where you live.

Please Note: If you are looking for articles written before 2003, try a Pub Med Query at http://www.ncbi.nlm.nih.gov. This is also a good site to go to for any additional information or queries for journal articles on other related topics. The Related Citations links will also give you additional literature on CFC syndrome and related topics.

PRIMARY LITERATURE RELEVANT TO CFC SYNDROME BY TOPIC

This bibliography is provided for informational purposes only. The articles on this list are neither written by nor endorsed by Cardio-Facio-Cutaneous International, Inc. The information provided herein should never be used by a patient or family member as a substitute for medical advice from a health care professional.

Dermatology

  1. 2013 Morice-Picard, Fanny, Khaled Ezzedine, Marie-Ange Delrue, Benoit Arveiler, Patricia Fergelot, Alain Taïeb, Didier Lacombe, and Franck Boralevi. “Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review.” Pediatric Dermatology 30, no. 6 (December 11, 2013): 665–73.

  2. 2012 Siegel, D.H., J.A. Mann, A.L. Krol, and K.A. Rauen. “Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in Development.” British Journal of Dermatology 166, no. 3 (March 2012): 601–7.

  3. 2012 Siegel, D.H., J.A. Mann, A.L. Krol, and K.A. Rauen. “Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in Development.” British Journal of Dermatology 166, no. 3 (March 2012): 601–7.

  4. 2011 Siegel, D.H., J. McKenzie, I.J. Frieden, and K.A. Rauen. “Dermatological Findings in 61 Mutation-Positive Individuals with Cardiofaciocutaneous Syndrome.” British Journal of Dermatology 164, no. 3 (March 2011): 521–29.

  5. 2010 Terao, M., N. Sakai, S. Higashiyama, Y. Kotobuki, A. Tanemura, M. Wataya-Kaneda, M. Yutsudo, K. Ozono, and I. Katayama. “Cutaneous Symptoms in a Patient with Cardiofaciocutaneous Syndrome and Increased ERK Phosphorylation in Skin Fibroblasts.” British Journal of Dermatology 163, no. 4 (October 2010): 881–84.

  6. 2006 “Cardio-Facio-Cutaneous Syndrome with Hemihidrosis: Ectodermal Dysplasias Spectrum?” International Journal of Dermatology 45, no. 12 (December 2006): 1481–82.

  7. 2004 Weiss, G., Y. Confino, A. Shemer, and H. Trau. “CASE REPORT Cutaneous Manifestations in the Cardiofaciocutaneous Syndrome, a Variant of the Classical Noonan Syndrome. Report of a Case and Review of the Literature.” Journal of the European Academy of Dermatology & Venereology 18, no. 3 (May 2004): 324–27.

  8. 1999 Schepis, Carmelo, Donatella Greco, and Corrado Romano. “Cardiofaciocutaneous (CFC) Syndrome.” Australasian Journal of Dermatology 40, no. 2 (May 1999): 111–13.

  9. 1994 Ward, K. A., Moss, C., McKeown, C. The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? Brit. J. Derm. 131: 270-274, 1994.

  10. 1992 Turnpenny, P. D., Dean, J. C. S., Auchterlonie, I. A., Johnston, A. W. Cardiofaciocutaneous syndrome with new ectodermal manifestations. J. Med. Genet. 29: 428-429, 1992

  11. 1991 Matsuda, Y., Murano, I., Kondoh, O., Matsuo, K., Kajii, T. Cardio-facio-cutaneous (CFC) syndrome: report of two patients without hyperkeratotic skin lesions. Am. J. Med. Genet. 39: 144-147, 1991

Development and Behavior

  1. 2016 Pierpont EI, Wolford M. Behavioral functioning in Cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. Am J Med Genet Part A 9999A:1–15.

  2. 2013 Goodwin, A. F., Oberoi, S., Landan, M., Charles, C., Groth, J., Martinez, A., Fairley, C., Weiss, L. A., Tidyman, W. E., Klein, O. D., Rauen, K. A.Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. Clin. Genet. 83: 539-544, 2013

  3. 1986 Reynolds, J. F., Neri, G., Herrmann, J. P., Blumberg, B., Coldwell, J. G., Miles, P. V., Opitz, J. M. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement–the CFC syndrome. Am. J. Med. Genet. 25: 413-427, 1986.

  4. 1986 Baraitser, M., Patton, M. A. A Noonan-like short stature syndrome with sparse hair. Med. Genet. 24: 9-13, 1986.

  5. 1973 Navaratnam, A. E. D., Hodgson, G. A. Ulerythema ophryogenes with mental retardation. Proc. Roy. Soc. Med. 66: 233-234, 1973.

 

Endocrinology

  1. 2005 Herman, Thomas E., and William H. McAlister. “Gastrointestinal and Renal Abnormalities in Cardio-Facio-Cutaneous Syndrome.” Pediatric Radiology 35, no. 2 (February 2005): 202–5.

 

Gastroenterology

  1. 2005 Herman, Thomas E., and William H. McAlister. “Gastrointestinal and Renal Abnormalities in Cardio-Facio-Cutaneous Syndrome.” Pediatric Radiology 35, no. 2 (February 2005): 202–5.

  2. 2000 Grebe, T. A., Clericuzio, C. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am. J. Med. Genet. 95: 135-143, 2000

 

General

  1. 2012 Pavithra, S., H. Mallya, and G. S. Pai. Cardiofaciocutaneous Syndrome: A Rare Entity., 57 299 (2012). Report of a case of CFC in India.

  2. 2008 Neri, G., Allanson, J., Kavamura, M. I. No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes. (Letter) J. Med. Genet. 45: 832 only, 2008.

  3. 2006 Roberts, A., Allanson, J., Jadico, S. K., Kavamura, M. I., Noonan, J., Opitz, J. M., Young, T., Neri, G. The cardiofaciocutaneous syndrome. J. Med. Genet. 43: 833-842, 2006.

  4. 2003 Neri, G., Kavamura, M. I., Zollino, M., Opitz, J. M. CFC syndrome. Am. J. Med. Genet. 116A: 410 only, 2003

  5. 2003 McGaughran, J. Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman. (Letter) Am. J. Med. Genet. 116A: 210-212, 2003

  6. 2002 Kavamura, M. I., Peres, C. A., Alchorne, M. M. A., Brunoni, D. CFC index for the diagnosis of cardiofaciocutaneous syndrome. J. Med. Genet. 112: 12-16, 2002.

  7. 1996 Manoukian, S., Lalatta, F., Selicorni, A., Tadini, G., Cavalli, R., Neri, G. Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. Am. J. Med. Genet. 63: 382-385, 1996.

  8. 1996 Lecora, M., Parenti, G., Andria, G. CFC syndrome: report of familial cases. (Letter) Clin. Genet. 50: 558-559, 1996.

  9. 1996 Krajewska-Walasek, M., Chrzanowska, K., Jastrzbska, M. The cardio-facio-cutaneous (CFC) syndrome: two possible new cases and review of the literature. Clin. Dysmorph.. 5: 65-72, 1996.

  10. 1994 Ward, K. A., Moss, C., McKeown, C. The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? Brit. J. Derm. 131: 270-274, 1994.

  11. 1992 Ghezzi, M., Parenti, G., de Franchis, R., Farina, V., de Leva, F., Guarino, A., Berni Canani, R., Strisciuglio, P. Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. Clin. Genet. 42: 206-209, 1992. [PubMed: 1358488, related citations]

  12. 1991 Neri, G., Zollino, M., Reynolds, J. F. The Noonan-CFC controversy. (Editorial) Am. J. Med. Genet. 39: 367-370, 1991.

  13. 1991 Fryer, A. E., Holt, P. J., Hughes, H. E. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? Am. J. Med. Genet. 38: 548-551, 1991.

  14. 1991 Bottani, A., Hammerer, I., Schinzel, A. The cardio-facio-cutaneous syndrome: report of a patient and review of the literature. J. Pediat. 150: 486-488, 1991.

  15. 1989 Sorge, G., DiForti, F., Scarano, G., Ventruto, V., Zelante, L., Dallapiccola, B. CFC syndrome: report on three additional cases. Am. J. Med. Genet. 33: 476-478, 1989

  16. 1989 Mucklow, E. S. A case of cardio-facio-cutaneous syndrome. Am. J. Med. Genet. 33: 474-475, 1989.

  17. 1989 Chrzanowska, K., Fryns, J. P., Van den Berghe, H. Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. Am. J. Med. Genet. 33: 471-473, 1989.

  18. 1988 Verloes, A., Le Merrer, M., Soyeur, D., Kaplan, J., Pangalos, C., Rigo, J., Briard, M.-L. CFC syndrome: a syndrome distinct from Noonan syndrome. Genet. 31: 230-234, 1988.

  19. 1987 Neri, G., Sabatino, G., Bertini, E., Genuardi, M. The CFC syndrome–report of the first two cases outside the United States. Am. J. Med. Genet. 27: 767-771, 1987.

 

Genetics

  1. 2015 Moreno-Igoa, María, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, and María Antonia Ramos-Arroyo. “KANSL1 Gene Disruption Associated with the Full Clinical Spectrum of 17q21.31 Microdeletion Syndrome.” BMC Medical Genetics 16, no. 1 (August 2015): 1–8.

  2. 2014 Nowaczyk, M.J.M., B.A. Thompson, S. Zeesman, U. Moog, P.A. Sanchez-Lara, P.L. Magoulas, R.E. Falk, et al. “Deletion of MAP2K2/MEK2: A Novel Mechanism for a RASopathy?” Clinical Genetics 85, no. 2 (February 2014): 138–46.

  3. 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8. Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen et.al.

  4. 2013 Goodwin, AF, S Oberoi, M Landan, C Charles, J Groth, A Martinez, C Fairley, et al. “Craniofacial and Dental Development in Cardio-Facio-Cutaneous Syndrome: The Importance of Ras Signaling Homeostasis.” Clinical Genetics 83, no. 6 (June 2013): 539–44.

  5. 2012 Stark, Z, G Gillessen-Kaesbach, MM Ryan, IC Cirstea, L Gremer, MR Ahmadian, R Savarirayan, and M Zenker. “Two Novel Germline KRAS Mutations: Expanding the Molecular and Clinical Phenotype.” Clinical Genetics 81, no. 6 (June 2012): 590–94.

  6. 2011 Linden, H. C., Price, S. M. Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. Clin. Dysmorph. 20: 86-88, 2011

  7. 2011 Champion, K. J., C. Bunag, A. L. Estep, J. R. Jones, C. H. Bolt, R. C. Rogers, K. A. Rauen, and D. B. Everman. “Germline Mutation in BRAF Codon 600 Is Compatible with Human Development: De Novo p.V600G Mutation Identified in a Patient with CFC Syndrome.” Clinical Genetics 79, no. 5 (May 2011): 468–74.

  8. 2010 Tumurkhuu, Munkhtuya, Makiko Saitoh, Atsushi Sato, Kan Takahashi, Masakazu Mimaki, Junko Takita, Kazuhide Takeshita, Takehiro Hama, Akira Oka, and Masashi Mizuguchi. “Comprehensive Genetic Analysis of Overlapping Syndromes of RAS/RAF/MEK/ERK Pathway.” Pediatrics International 52, no. 4 (August 2010): 557–62.

  9. 2010 Komatsuzaki, Shoko, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C M Hennekam, Saskia Hopman, Hirofumi Ohashi, et al. “Mutation Analysis of the SHOC2 Gene in Noonan-like Syndrome and in Hematologic Malignancies.” Journal of Human Genetics 55, no. 12 (December 2010): 801–9.

  10. 2009 Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., and 15 others. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum. Mutat. 30: 695-702, 2009

  11. 2009 Nyström, Anna-Maja, Sara Ekvall, Bo Strömberg, Gerd Holmström, Ann-Charlotte Thuresson, Göran Annerén, and Marie-Louise Bondeson. “A Severe Form of Noonan Syndrome and Autosomal Dominant Café-Au-Lait Spots – Evidence for Different Genetic Origins.” Acta Paediatrica 98, no. 4 (April 2009): 693–98.

  12. 2009 Dentici, Maria Lisa, Anna Sarkozy, Francesca Pantaleoni, Claudio Carta, Francesca Lepri, Rosangela Ferese, Viviana Cordeddu, et al. “Spectrum of MEK1 and MEK2 Gene Mutations in Cardio-Facio-Cutaneous Syndrome and Genotype–phenotype Correlations.” European Journal of Human Genetics 17, no. 6 (June 2009): 733–40. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947095/

  13. 2009 Anastasaki, C., Estep, A. L., Marais, R., Rauen, K. A., Patton, E. E. Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum. Molec. Genet. 18: 2543-2554, 2009.

  14. 2008 Schulz, A. L., B. Albrecht, C. Arici, I. van der Burgt, A. Buske, G. Gillessen-Kaesbach, R. Heller, et al. “Mutation and Phenotypic Spectrum in Patients with Cardio-Facio-Cutaneous and Costello Syndrome.” Clinical Genetics 73, no. 1 (January 2008): 62–70.

  15. 2008 Schulz, A. L., Albrecht, B., Arici, C., van der Burgt, I., Buske, A., Gillessen-Kaesbach, G., Heller, R., Horn, D., Hubner, C. A., Korenke, G. C., Konig, R., Kress, W., and 15 others. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome Clin. Genet. 73: 62-70, 2008

  16. 2008 Nystrom, A.-M., Ekvall, S., Berglund, E., Bjorkqvist, M., Braathen, G., Duchen, K., Enell, H., Holmberg, E., Holmlund, U., Olsson-Engman, M., Anneren, G., Bondeson, M.-L. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J. Med. Genet. 45: 500-506, 2008

  17. 2007 Lee, S.-T., C.-S. Ki, and H. J. Lee. “Mutation Analysis of the Genes Involved in the Ras-Mitogen-Activated Protein Kinase (MAPK) Pathway in Korean Patients with Noonan Syndrome.” Clinical Genetics 72, no. 2 (August 2007): 150–55.

  18. 2007 Gripp, K. W., Lin, A. E., Nicholson, L., Allen, W., Cramer, A., Jones, K. L., Kutz, W., Peck, D., Rebolledo, M. A., Wheeler, P. G., Wilson, W., Al-Rahawan, M. M., Stabley, D. L., Sol-Church, K. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am. J. Med. Genet. 143A: 1472-1480, 2007.

  19. 2007 Armour, C. M., Allanson, J. E. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. (Letter) J. Med. Genet. 45: 249-254, 2008.

  20. 2006 Rodriguez-Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Santa Cruz, M., McCormick, F., Rauen, K. A. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311: 1287-1290, 2006.

  21. 2006 Rauen, K. A. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. (Letter) Am. J. Med. Genet. 140A: 1681-1683, 2006

  22. 2006 Niihori, Tetsuya, Yoko Aoki, Yoko Narumi, Giovanni Neri, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, et al. “Germline KRAS and BRAF Mutations in Cardio-Facio-Cutaneous Syndrome.” Nature Genetics 38, no. 3 (March 2006): 294–96.

  23. 2006 Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cave, H., Verloes, A., Okamoto, N., Hennekam, R. C. M., Gillessen-Kaesbach, G., Wieczorek, D., Kavamura, M.I., Kurosawa, K., and 12 others. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature Genet. 38: 294-296, 2006.

  24. 2006 Estep, A. L., Tidyman, W. E., Teitell, M. A., Cotter, P. D., Rauen, K. A. HRAS mutation in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am. J. Med. Genet. 140A: 8-16, 2006. [PubMed: 16372351,related citations] [Full Text: John Wiley & Sons, Inc.]

  25. 2004 Garnett, M. J., Marais, R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6: 313-319, 2004.

  26. 2003 Tartaglia, M, PD Cotter, G Zampino, BD Gelb, and KA Rauen. “Exclusion of PTPN11 Mutations in Costello Syndrome: Further Evidence for Distinct Genetic Etiologies for Noonan, Cardio–facio–cutaneous and Costello Syndromes.” Clinical Genetics 63, no. 5 (May 2003): 423–26.

  27. 2003 Schollen, Els, Gert Matthijs, Marc Gewillig, Jean-Pierre Fryns, and Eric Legius. “PTPN11 Mutation in a Large Family with Noonan Syndrome and Dizygous Twinning.” European Journal of Human Genetics 11, no. 1 (January 2003): 85.

  28. 2003 Musante, Luciana, Hans G Kehl, Frank Majewski, Peter Meinecke, Susann Schweiger, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, et al. “Spectrum of Mutations in PTPN11 and Genotype-Phenotype Correlation in 96 Patients with Noonan Syndrome and Five Patients with Cardio-Facio-Cutaneous Syndrome.” European Journal of Human Genetics 11, no. 2 (February 2003): 201.

  29. 2003 McGaughran, J. Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman. (Letter) Am. J. Med. Genet. 116A: 210-212, 2003

  30. 2003 Kavamura, M.I., M.G. Pomponi, M. Zollino, R. Lecce, M. Murdolo, D. Brunoni, M.M.A. Alchorne, J.M. Opitz, and G. Neri. “PTPN11 Mutations Are Not Responsible for the Cardiofaciocutaneous (CFC) Syndrome.” European Journal of Human Genetics 11, no. 1 (January 2003): 64.

  31. 2003 Carey, J. C. Editor’s note: regarding correspondence on CFC syndrome and interstitial 12q deletions. Am. J. Med. Genet. 116A: 413 only, 2003.

  32. 2002 Rauen, K. A., Albertson, D. G., Pinkel, D., Cotter, P. D. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am. J. Med. Genet. 110: 51-56, 2002.

  33. 2002 Ion, A., Tartaglia, M., Song, X., Kalidas, K., van der Burgt, I., Shaw, A. C., Ming, J. E., Zampino, G., Zackai, E. H., Dean, J. C. S., Somer, M., Parenti, G., Crosby, A. H., Patton, M. A., Gelb, B. D., Jeffery, S. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.Hum. Genet. 111: 421-427, 2002.

  34. 2000 Zollino, M., Neri, G. Partial deletion of chromosome 12q is not usually associated with CFC syndrome. Am. J. Med. Genet. 95: 296 only, 2000

  35. 2000 Rauen, K. A., Cotter, P. D., Bitts, S. M., Cox, V. A., Golabi, M. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am. J. Med. Genet. 93: 219-222, 2000.

  36. 2000 Grebe, T. A., Clericuzio, C. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am. J. Med. Genet. 95: 135-143, 2000.

  37. 1998 Legius, Eric, Els Schollen, Gert Matthijs, and Jean-Pierre Fryns. “Fine Mapping of Noonan/cardio-Facio Cutaneous Syndrome in a Large Family.” European Journal of Human Genetics 6, no. 1 (January 1998): 32.

  38. 1998 Legius, E., Schollen, E., Matthijs, G., Fryns, J.-P. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. Europ. J. Hum. Genet. 6: 32-37, 1998

  39. 1997 Wieczorek, D., Majewski, F., Gillessen-Kaesbach, G. Cardio-facio-cutaneous (CFC) syndrome–a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin. Genet. 52: 37-46, 1997.

  40. 1996 Manoukian, S., Lalatta, F., Selicorni, A., Tadini, G., Cavalli, R., Neri, G. Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. Am. J. Med. Genet. 63: 382-385, 1996.

  41. 1992 Turnpenny, P. D., Dean, J. C. S., Auchterlonie, I. A., Johnston, A. W. Cardiofaciocutaneous syndrome with new ectodermal manifestations. Med. Genet. 29: 428-429, 1992

  42. 1991 Corsello, G., Giuffre, L. Cardiofaciocutaneous syndrome: notes on clinical variability and natural history. (Letter) Am. J. Med. Genet. 41: 265-266, 1991.

  43. 1988 Verloes, A., Le Merrer, M., Soyeur, D., Kaplan, J., Pangalos, C., Rigo, J., Briard, M.-L. CFC syndrome: a syndrome distinct from Noonan syndrome. Genet. 31: 230-234, 1988.

  44. 1986 Reynolds, J. F., Neri, G., Herrmann, J. P., Blumberg, B., Coldwell, J. G., Miles, P. V., Opitz, J. M. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement–the CFC syndrome. Am. J. Med. Genet. 25: 413-427, 1986.

  45. 1973 Navaratnam, A. E. D., Hodgson, G. A. Ulerythema ophryogenes with mental retardation. Proc. Roy. Soc. Med. 66: 233-234, 1973.

 

Neurology

  1. 2007 Yoon, Grace, Jodine Rosenberg, Susan Blaser, and Katherine A. Rauen. “Neurological Complications of Cardio-Facio-Cutaneous Syndrome.” Developmental Medicine & Child Neurology 49, no. 12 (December 2007): 894–99.

  2. 2007 Denayer, Ellen, and Eric Legius. “What’s New in the Neuro-Cardio-Facial-Cutaneous Syndromes?” European Journal of Pediatrics 166, no. 11 (November 2007): 1091–98.

  3. 2000 Grebe, T. A., Clericuzio, C. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am. J. Med. Genet. 95: 135-143, 2000. [PubMed: 11078563, related citations] [Full Text: John Wiley & Sons, Inc.]

  4. 1990 Gross-Tsur, V., Gross-Kieselstein, E., Amir, N. Cardio-facio cutaneous syndrome: neurological manifestations. Clin. Genet. 38: 382-386, 1990

 

Oncology

  1. 2015 Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. British journal of cancer 2015 Mar . Kratz C P, Franke L, Peters H et al.

  2. 2014 Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human molecular genetics 2014 Apr . Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M et al.

  3. 2011 Kratz CP1, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. doi: 10.1002/ajmg.c.30300. Epub 2011 Apr 15. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

  4. 2009 Neumann, Thomas E., Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline Noonan, Viviana Cordeddu, et al. “Multiple Giant Cell Lesions in Patients with Noonan Syndrome and Cardio-Facio-Cutaneous Syndrome.” European Journal of Human Genetics 17, no. 4 (April 2009): 420–25.

  5. 2004 Garnett, M. J., Marais, R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6: 313-319, 2004.

  6. 1999 Van Den Berg, H., Hennekam, R. C. M. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. Med. Genet. 36: 799-800, 1999.

 

Orthopedic

  1. 2011 Stevenson, DA, EL Schwarz, JC Carey, DH Viskochil, H Hanson, S Bauer, H-Y Cindy Weng, et al. “Bone Resorption in Syndromes of the Ras/MAPK Pathway.” Clinical Genetics 80, no. 6 (December 2011): 566–73.

 

Research Studies & Meetings

  1. 2013 Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach: Program Agenda and Abstracts & Abstract Handouts

http://www.cfcsyndrome.org/pdf/research-grant.docm

  1. 2009 Symposium: Genetic Syndromes of the Ras/MAPK Pathway

  2. 2009 Anastasaki, C., Estep, A. L., Marais, R., Rauen, K. A., Patton, E. E. Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum. Molec. Genet. 18: 2543-2554, 2009.