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There are 19159 results for: content related to: Fourteen-Month-Old Girl with Facial Skin Thinning

  1. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 190–198, Manuela Morleo, Tiziano Pramparo, Lucia Perone, Giuliana Gregato, Cedric Le Caignec, Robert F. Mueller, Tsutomu Ogata, Annick Raas-Rothschild, Marie Christine de Blois, Louise C. Wilson, Gerald Zaidman, Orsetta Zuffardi, Andrea Ballabio and Brunella Franco

    Version of Record online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30864

  2. 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

  3. A Giant Congenital Plaque

    Pediatric Dermatology

    Volume 29, Issue 2, March/April 2012, Pages: 217–218, Kurtulus Didem Yazganoglu, Yasemin Erdem, Nesimi Buyukbabani and Can Baykal

    Version of Record online : 13 MAR 2012, DOI: 10.1111/j.1525-1470.2011.01617.x

  4. Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

    Prenatal Diagnosis

    Volume 27, Issue 4, April 2007, Pages: 373–379, Colyn Cargile Cain, Daniel Saul, Lisa Attanasio, Erin Oehler, Ada Hamosh, Karin Blakemore and Gail Stetten

    Version of Record online : 8 FEB 2007, DOI: 10.1002/pd.1674

  5. Microphthalmia with Linear Skin Defects: A Case Report and Review

    Pediatric Dermatology

    Volume 25, Issue 5, September/October 2008, Pages: 548–552, Vishakha M. Sharma, Arlene M. Ruiz de Luzuriaga, Darrel Waggoner, Mark Greenwald and Sarah L. Stein

    Version of Record online : 2 OCT 2008, DOI: 10.1111/j.1525-1470.2008.00724.x

  6. New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 202–208, Philip F. Giampietro, Deepti Babu, Monica A. Koehn, Daniel M. Jacobson, Karla A. Mueller-Schrader, Cara Moretti, Stella F. Patten, Lisa G. Shaffer, Robert J. Gorlin and William B. Dobyns

    Version of Record online : 24 JUN 2003, DOI: 10.1002/ajmg.a.20377

  7. Twin brothers with MIDAS syndrome and XX karyotype

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 47–49, A. Anguiano, X. Yang, J.K. Felix and J.J. Hoo

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10172

  8. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1698–1705, Grace M. Hobson, Carolyn W. Gibson, Melissa Aragon, Zhi-an Yuan, Angelique Davis-Williams, Linda Banser, Jennifer Kirkham and Alan H. Brook

    Version of Record online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32968

  9. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome

    American Journal of Medical Genetics

    Volume 47, Issue 5, 1 October 1993, Pages: 710–713, Dr. R. Happle, O. Daniëls and R. J. J. Koopman

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470525

  10. Painful Vulvar Nodule

    Pediatric Dermatology

    Volume 29, Issue 2, March/April 2012, Pages: 217–218, Tien V. Nguyen, Mark R. Matthews, Frederick Brown and John C. Browning

    Version of Record online : 13 MAR 2012, DOI: 10.1111/j.1525-1470.2011.01633.x

  11. Case of unilateral focal dermal hypoplasia (Goltz syndrome)

    The Journal of Dermatology

    Volume 35, Issue 1, January 2008, Pages: 33–35, Masako AOYAMA, Hiroo SAWADA, Yoichi SHINTANI, Iwao ISOMURA and Akimichi MORITA

    Version of Record online : 27 DEC 2007, DOI: 10.1111/j.1346-8138.2007.00408.x

  12. Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck

    Pediatric Dermatology

    Volume 14, Issue 1, January 1997, Pages: 26–30, Brent R. Paulger, Eric W. Kraus, Donald R. Pulitzer and Charleen M. Moore

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1525-1470.1997.tb00422.x

  13. Ectodermal Dysplasias

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Peter Itin

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0068

  14. Microphthalmia with Linear Skin Defects Syndrome

    Pediatric Dermatology

    Volume 30, Issue 6, November/December 2013, Pages: e230–e231, Ana García-Rabasco, Blanca De-Unamuno, Francisco Martínez, Isabel Febrer-Bosch and Víctor Alegre-de-Miquel

    Version of Record online : 21 MAY 2012, DOI: 10.1111/j.1525-1470.2012.01735.x

  15. You have full text access to this OnlineOpen article
    The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

    EMBO Molecular Medicine

    Volume 5, Issue 2, February 2013, Pages: 280–293, Alessia Indrieri, Ivan Conte, Giancarlo Chesi, Alessia Romano, Jade Quartararo, Rosarita Tatè, Daniele Ghezzi, Massimo Zeviani, Paola Goffrini, Ileana Ferrero, Paola Bovolenta and Brunella Franco

    Version of Record online : 22 JAN 2013, DOI: 10.1002/emmm.201201739

  16. Second 46,XX male with MLS syndrome

    American Journal of Medical Genetics

    Volume 76, Issue 1, 26 February 1998, Pages: 37–41, Robert F. Stratton, Christi A. Walter, Brent R. Paulgar, Mary E. Price and Charleen M. Moore

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980226)76:1<37::AID-AJMG6>3.0.CO;2-M

  17. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

    American Journal of Medical Genetics

    Volume 53, Issue 2, 1 November 1994, Pages: 141–148, Lynne M. Bird, Henry F. Krous, Lawrence F. Eichenfield, Christopher I. Swalwell and Marilyn C. Jones

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320530205

  18. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 479–486, Laura Mary, Sophie Scheidecker, Monique Kohler, Maria-Paola Lombardi, Anne-Lise Delezoide, Elisabeth Auberger, Stéphane Triau, Estelle Colin, Marion Gerard, Karl-Heinz Grzeschik, Hélène Dollfus and Maria Cristina Antal

    Version of Record online : 13 SEP 2016, DOI: 10.1002/ajmg.a.37974

    Corrected by:

    CORRIGENDUM: Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

    Vol. 173, Issue 6, 1722–1724, Version of Record online: 19 APR 2017

  19. You have free access to this content
    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
    Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

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

    Volume 172, Issue 1, March 2016, Pages: 9–20, Bret Bostwick, Ping Fang, Ankita Patel and V. Reid Sutton

    Version of Record online : 7 FEB 2016, DOI: 10.1002/ajmg.c.31473