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There are 12274 results for: content related to: Co-occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

  1. You have free access to this content
    Mutation update for the PORCN gene

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 723–728, Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel and Raoul C. Hennekam

    Version of Record online : 21 JUN 2011, DOI: 10.1002/humu.21505

  2. You have free access to this content
    Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review

    Pediatrics International

    Volume 56, Issue 5, October 2014, Pages: 667–674, Katsunori Fujii and Toshiyuki Miyashita

    Version of Record online : 22 OCT 2014, DOI: 10.1111/ped.12461

  3. Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)

    Standard Article

    Management of Genetic Syndromes

    Peter Farndon

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs023

  4. Consensus recommendations for the treatment of basal cell carcinomas in Gorlin syndrome with topical methylaminolaevulinate-photodynamic therapy

    Journal of the European Academy of Dermatology and Venereology

    Volume 28, Issue 5, May 2014, Pages: 626–632, N. Basset-Seguin, R. Bissonnette, C. Girard, M. Haedersdal, J.T. Lear, C. Paul and S. Piaserico

    Version of Record online : 13 APR 2013, DOI: 10.1111/jdv.12150

  5. Gorlin syndrome with ulcerative colitis in a Japanese girl

    American Journal of Medical Genetics Part A

    Volume 121A, Issue 1, 15 August 2003, Pages: 65–68, Katsunori Fujii, Toshiyuki Miyashita, Taku Omata, Kazuhiko Kobayashi, Jun-ichi Takanashi, Katsunori Kouchi, Masao Yamada and Yoichi Kohno

    Version of Record online : 1 APR 2003, DOI: 10.1002/ajmg.a.20082

  6. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

    Molecular Carcinogenesis

    Volume 54, Issue 6, June 2015, Pages: 473–484, Aaron T. Wright, Thierry Magnaldo, Ryan L. Sontag, Lindsey N. Anderson, Natalie C. Sadler, Paul D. Piehowski, Yannick Gache and Thomas J. Weber

    Version of Record online : 27 NOV 2013, DOI: 10.1002/mc.22115

  7. Robert J. Gorlin, 1923–2006: A remembrance

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2516–2520, M. Michael Cohen Jr

    Version of Record online : 6 NOV 2006, DOI: 10.1002/ajmg.a.31555

  8. Molecular evidence of type 2 mosaicism in Gorlin syndrome

    British Journal of Dermatology

    Volume 169, Issue 6, December 2013, Pages: 1342–1345, A. Torrelo, A. Hernández-Martín, E. Bueno, I. Colmenero, I. Rivera, L. Requena, R. Happle and R. González-Sarmiento

    Version of Record online : 2 DEC 2013, DOI: 10.1111/bjd.12458

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    Malignant epithelial tumors: Part I. Pathophysiology and clinical features

    JDDG: Journal der Deutschen Dermatologischen Gesellschaft

    Volume 10, Issue 7, July 2012, Pages: 457–472, Martin Leverkus

    Version of Record online : 25 JUN 2012, DOI: 10.1111/j.1610-0387.2012.07963.x

  10. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1750–1754, Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga and Karl-Heinz Grzeschik

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35964

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    Marathon of eponyms: 7 Gorlin–Goltz syndrome (Naevoid basal-cell carcinoma syndrome)

    Oral Diseases

    Volume 16, Issue 1, January 2010, Pages: 117–118, C Scully, J Langdon and J Evans

    Version of Record online : 16 DEC 2009, DOI: 10.1111/j.1601-0825.2009.01539.x

  12. Basal cell nevus syndrome: clinical and molecular review and case report

    International Journal of Dermatology

    Volume 55, Issue 4, April 2016, Pages: 367–375, Livia Cristina de Melo Pino, Laila Klotz de Almeida Balassiano, Marlene Sessim, Ana Paula Moura de Almeida, Vinicius Dequech Empinotti, Ivan Semenovitch, Curt Treu and Omar Lupi

    Version of Record online : 10 SEP 2015, DOI: 10.1111/ijd.12993

  13. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail-Patella syndrome

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 179–191, Alina T. Midro, Barbara Panasiuk, Zeynep Tümer, Paweł Stankiewicz, Asli Silahtaroglu, James R. Lupski, Zuzana Zemanova, Beata Stasiewicz-Jarocka, Ewa Hubert, Eugeniusz Tarasów, Waldemar Famulski, Barbara Zadrożna-Tołwińska, Ewa Wasilewska, Marie Kirchhoff, Vera Kalscheuer, Kyra Michalova and Niels Tommerup

    Version of Record online : 13 JUN 2003, DOI: 10.1002/ajmg.a.20367

  14. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 71–76, H Roudgari, P A Farndon, A D Murray, C Hardy and Z Miedzybrodzka

    Version of Record online : 30 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01725.x

  15. Patched mutations and hairy skin patches: A new sign in Gorlin syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2625–2630, Louise C. Wilson, Ekundayo Ajayi-Obe, Birgitta Bernhard and Saskia M. Maas

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31374

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    Cancer-associated genodermatoses: a personal history

    Experimental Dermatology

    Volume 15, Issue 9, September 2006, Pages: 653–666, Walter H. C. Burgdorf

    Version of Record online : 31 JUL 2006, DOI: 10.1111/j.1600-0625.2006.00463.x

  17. Focal dermal hypoplasia: updates

    Oral Diseases

    Volume 20, Issue 1, January 2014, Pages: 17–24, L Wang, X Jin, X Zhao, D Liu, T Hu, W Li, L Jiang, H Dan, X Zeng and Q Chen

    Version of Record online : 6 MAR 2013, DOI: 10.1111/odi.12083

  18. Complex karyotypic abnormality in ovarian fibroma associated with Gorlin syndrome

    American Journal of Medical Genetics

    Volume 112, Issue 1, 15 September 2002, Pages: 61–64, Lynn M. Smith, Ping Hu, Larry J. Meyer and Cheryl M. Coffin

    Version of Record online : 28 JUN 2002, DOI: 10.1002/ajmg.10607

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    Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 172, Issue 1, March 2016, Pages: 59–63, Jordan D. Gisseman and Honey H. Herce

    Version of Record online : 18 MAR 2016, DOI: 10.1002/ajmg.c.31480

  20. You have free access to this content
    Robert J. Gorlin as a humorist

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1131–1134, M. Michael Cohen Jr.

    Version of Record online : 1 MAY 2007, DOI: 10.1002/ajmg.a.31814