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There are 300032 results for: content related to: Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): Report of six cases of a new syndrome/association

  1. Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 53–71, Pablo Lapunzina

    Article first published online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30064

  2. CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1390–1397, Valeria Romanelli, Alberta Belinchón, Sara Benito-Sanz, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Karen E. Heath, Angel Campos-Barros, Sixto García-Miñaur, Luís Fernandez, Heloisa Meneses, Juan Pedro López-Siguero, Encarna Guillén-Navarro, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Graciela Mercado, Victoria Esteban-Marfil, Rebeca Palomo, Rocío Mena, Aurora Sánchez, Miguel del Campo and Pablo Lapunzina

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33453

  3. Sotos syndrome is associated with leukemia/lymphoma

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1244–1245, Víctor Martínez-Glez and Pablo Lapunzina

    Article first published online : 4 MAY 2007, DOI: 10.1002/ajmg.a.31727

  4. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 3, 15 October 2005, Pages: 272–277, Germán Rodríguez-Criado, Luis Magano, Mabel Segovia, Fiorella Gurrieri, Giovanni Neri, Antonio González-Meneses, Ignacio Gómez de Terreros, Rita Valdéz, Ricardo Gracia and Pablo Lapunzina

    Article first published online : 12 SEP 2005, DOI: 10.1002/ajmg.a.30920

  5. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 868–876, Karen W. Gripp, Elizabeth Hopkins, Chana Vinkler, Dorit Lev, Gustavo Malinger, Tally Lerman-Sagie and William B. Dobyns

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32732

  6. Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3101–3106, Víctor Martínez-Glez, Valeria Romanelli, María A. Mori, Ricardo Gracia, Mabel Segovia, Antonio González-Meneses, Juan C. López-Gutierrez, Esther Gean, Loreto Martorell and Pablo Lapunzina

    Article first published online : 12 NOV 2010, DOI: 10.1002/ajmg.a.33514

  7. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2981–3008, Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph Shieh, John B. Moeschler, Barbara Crandall, Julie L. Lauzon, David H. Viskochil, Brian Harding and John M. Graham Jr.

    Article first published online : 13 NOV 2007, DOI: 10.1002/ajmg.a.32040

  8. Acute lymphoblastic leukemia in Weaver syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 383–386, Lina Basel-Vanagaite

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33244

  9. Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 45–51, Pablo Lapunzina, Alba Gairí, Alicia Delicado, M. Angeles Mori, M. Luisa de Torres, Anton Goma, Marcelo Navia and Isidora López Pajares

    Article first published online : 3 AUG 2004, DOI: 10.1002/ajmg.a.30235

  10. You have free access to this content
    Genetic disorders associated with macrocephaly

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2023–2037, Charles A. Williams, Aditi Dagli and Agatino Battaglia

    Article first published online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32434

  11. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1134–1141, Luis Fernández, Pablo Lapunzina, Isidora López Pajares, María Palomares, Isabel Martínez, Blanca Fernández, José Quero, Luis García-Guereta, Alfredo García-Alix, Margarita Burgueros, Enrique Galán-Gómez, José María Carbonell-Pérez, Ángeles Pérez-Granero, Laura Torres-Juan, Damià Heine-Suñer, Jordi Rosell and Alicia Delicado

    Article first published online : 2 APR 2008, DOI: 10.1002/ajmg.a.32256

  12. Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 176–182, Manu S. Raam, Benjamin D. Solomon, Stavit A. Shalev and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30234

  13. Discordant monozygotic twins for macrocephaly-capillary malformation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1509–1511, Damien Lederer, Katrina Rack, Sébastien Boulanger, Oreste Battisti and Christine Verellen-Dumoulin

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35382

  14. Fabrication of arbitrary polymer patterns for cell study by two-photon polymerization process

    Journal of Biomedical Materials Research Part A

    Volume 93A, Issue 1, April 2010, Pages: 56–66, Hojeong Jeon, Hirofumi Hidai, David J. Hwang and Costas P. Grigoropoulos

    Article first published online : 29 MAY 2009, DOI: 10.1002/jbm.a.32517

  15. Preparation, characterization, structure, and dynamics of carboxymethyl chitosan grafted with acrylic acid sodium salt

    Journal of Applied Polymer Science

    Volume 118, Issue 4, 15 November 2010, Pages: 2134–2145, Ibrahim M. El-Sherbiny and Mahdy M. Elmahdy

    Article first published online : 11 JUN 2010, DOI: 10.1002/app.32517

  16. Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

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

    Volume 160C, Issue 3, 15 August 2012, Pages: 175–189, Marianne Rohrbach and Cecilia Giunta

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31334

  17. Genetic and molecular control of osterix in skeletal formation

    Journal of Cellular Biochemistry

    Volume 114, Issue 5, May 2013, Pages: 975–984, Krishna M. Sinha and Xin Zhou

    Article first published online : 14 MAR 2013, DOI: 10.1002/jcb.24439

  18. Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2105–2111, Matthew R. Fickie, Pablo Lapunzina, Jennifer K. Gentile, Nina Tolkoff-Rubin, Daniela Kroshinsky, Enrique Galan, Esther Gean, Loreto Martorell, Valeria Romanelli, Joaquín Fernandez Toral and Angela E. Lin

    Article first published online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34156

  19. You have free access to this content
    Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 2, February 2012, Pages: 269–291, Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham Jr and William B. Dobyns

    Article first published online : 6 JAN 2012, DOI: 10.1002/ajmg.a.34402

  20. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 192–197, Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio and Pablo Lapunzina

    Article first published online : 29 NOV 2012, DOI: 10.1002/ajmg.a.35663