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1KLIPPEL TRENAUNAY SYNDROME: REPORT OF A RARE, MILD FORM OF SYNDROME
Shubhangi V. Agale,Bhavana M.Bharambe,Ravikiransingh Pawar,Valand A.G.
Journal of Evolution of Medical and Dental Sciences.2012;1(5)693
[DOI]
2Nevus flammeus, mancha mongólica aberrante y clínica neurológica
R. Ruiz Villaverde,M. Galán Gutierrez,C. Sierra Córcoles
Anales de Pediatría.2013;78(2)125
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3Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar,Diane B. Zastrow,Elijah J. Kravets,Daniah Beleford,Maura R. Z. Ruzhnikov,Megan E. Grove,Annika M. Dries,Jennefer N. Kohler,Daryl M. Waggott,Yaping Yang,Yong Huang,Katherine M. Mackenzie,Christine M. Eng,Paul G. Fisher,Euan A. Ashley,Joyce M. Teng,David A. Stevenson,Joseph T. Shieh,Matthew T. Wheeler,Jonathan A. Bernstein
American Journal of Medical Genetics Part A.2019;179(6)966
[DOI]
4Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Arthur Zimmermann
American Journal of Medical Genetics Part A.2017;179(6)1009
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5Klippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations
Ruojie He,Songjie Liao,Xiaoli Yao,Ruxun Huang,Jinsheng Zeng,Jian Zhang,Jian Yu
Annals of Clinical and Translational Neurology.2020;7(7)1258
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6Klippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations
Arthur Zimmermann
Annals of Clinical and Translational Neurology.2016;7(7)1
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7Klippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations
Mark R. Harrigan,John P. Deveikis
Annals of Clinical and Translational Neurology.2013;7(7)627
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8Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect
Yuri Sakaguchi,Toshiki Takenouchi,Tomoko Uehara,Kazuo Kishi,Takao Takahashi,Kenjiro Kosaki
American Journal of Medical Genetics Part A.2017;173(10)2831
[DOI]
9Evolution of a symptomatic diffuse developmental venous anomaly with progressive cerebral atrophy in an atypical case of Sturge–Weber syndrome
Koyo Ohno,Yoshiaki Saito,Masami Togawa,Yuki Shinohara,Takamichi Ito,Hidenori Sugano,Shinji Itamura,Yoko Nishimura,Akiko Tamasaki,Yoshihiro Maegaki
Brain and Development.2015;37(8)817
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10Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
Anna C. Thomas,Zhiqiang Zeng,Jean-Baptiste Rivière,Ryan O’Shaughnessy,Lara Al-Olabi,Judith St.-Onge,David J. Atherton,Hélène Aubert,Lorea Bagazgoitia,Sébastien Barbarot,Emmanuelle Bourrat,Christine Chiaverini,W. Kling Chong,Yannis Duffourd,Mary Glover,Leopold Groesser,Smail Hadj-Rabia,Henning Hamm,Rudolf Happle,Imran Mushtaq,Jean-Philippe Lacour,Regula Waelchli,Marion Wobser,Pierre Vabres,E. Elizabeth Patton,Veronica A. Kinsler
Journal of Investigative Dermatology.2016;136(4)770
[DOI]
11Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
Mark R. Harrigan,John P. Deveikis
Journal of Investigative Dermatology.2018;136(4)787
[DOI]
12Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
Nitasha Klar,Bernard Cohen,Doris D.M. Lin
Journal of Investigative Dermatology.2016;135(4)565
[DOI]
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