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Acta Dermato-Venereologica
Article . 2018
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image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
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Acta Dermato-Venereologica
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9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient

Authors: Alice, Kieny; Valérie, Kremer; Sophie, Scheidecker; Dan, Lipsker;

9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient

Subjects by Vocabulary

Microsoft Academic Graph classification: Oncology medicine.medical_specialty Vismodegib Internal medicine medicine Multiple Basal Cell Carcinomas business.industry Microdeletion syndrome business medicine.drug

Keywords

Adult, Skin Neoplasms, Pyridines, Antineoplastic Agents, Chromosome Disorders, Dermatology, Humans, Anilides, Basal Cell Nevus Syndrome, General Medicine, Treatment Outcome, RL1-803, Female, Drug Eruptions, Chromosomes, Human, Pair 9

14 references, page 1 of 2

1. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med Off J Am Coll Med Genet 2004; 6: 530-539. [OpenAIRE]

2. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovky I, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85: 841-851. [OpenAIRE]

3. Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. Clinical features of microdeletion 9q22.3 (pat). Clin Genet 2009; 75: 384-393.

4. Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE,Clark RD, et al. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A 2012; 158: 391-399.

5. Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, et al. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006; 14: 759-767. [OpenAIRE]

6. Reichert SC, Zelley K, Nichols KE, Eberhard M, Zackai EH, Martinez-Poyer J. Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. Am J Med Genet A 2015; 167A: 862-865.

7. Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, et al. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. Am J Med Genet A 2013; 161A: 2894-2901.

8. Axelson M, Liu K, Jiang X, He K, Wang J, Zhao H, Kufrin D, et al. U.S. Food and Drug Administration approval: vismodegib for recurrent, locally advanced, or metastatic basal cell carcinoma. Clin Cancer Res Off J Am Assoc Cancer Res 2013; 19: 2289-2293.

9. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med Off J Am Coll Med Genet 2004; 6: 495-502. [OpenAIRE]

10. Juneja SC, Veillette C. Defects in tendon, ligament, and enthesis in response to genetic alterations in key proteoglycans and glycoproteins: a review. Arthritis 2013; 2013: 154812. [OpenAIRE]

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    Average
  • citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    2
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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