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There are 18581 results for: content related to: Terminal osseous dysplasia and pigmentary defects in a Brazilian girl

  1. You have free access to this content
    Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 51–57, Anna Baroncini, Pia Castelluccio, Manuela Morleo, Fiorenza Soli and Brunella Franco

    Version of Record online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31557

  2. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2459–2462, Cody J. Connor, Oleg A. Shchelochkov and Heather Ciliberto

    Version of Record online : 8 JUN 2015, DOI: 10.1002/ajmg.a.37176

  3. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1825–1831, Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M. Leal, Pasquale Piccolo, Ignatia B. Van Den Veyver and Carlos A. Bacino

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33470

  4. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 2, 11 September 2000, Pages: 102–112, Carlos A. Bacino, David W. Stockton, Roberta A. Sierra, Heidi A. Heilstedt, Raymond Lewandowski and Ignatia B. Van den Veyver

    Version of Record online : 7 SEP 2000, DOI: 10.1002/1096-8628(20000911)94:2<102::AID-AJMG2>3.0.CO;2-X

  5. You have full text access to this OnlineOpen article
    Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 6, November 2014, Pages: 467–471, Nicola Brunetti-Pierri, Maria Torrado, Maria del Carmen Fernandez, Ana Maria Tello, Claudia L. Arberas, Antonella Cardinale, Pasquale Piccolo and Carlos A. Bacino

    Version of Record online : 8 AUG 2014, DOI: 10.1002/mgg3.90

  6. Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

    Australasian Journal of Dermatology

    Friyana K Bhabha, Maie Walsh, David Orchard and Ravi Savarirayan

    Version of Record online : 9 JUN 2015, DOI: 10.1111/ajd.12367

  7. Further Documentation of Spontaneous Regression of Infantile Digital Fibromatosis

    Pediatric Dermatology

    Volume 24, Issue 3, May/June 2007, Pages: 280–284, Pascal Niamba, Christine Léauté-Labrèze, Frank Boralevi, Sébastien Lepreux, Mélanie Chamaillard, Pierre Vergnes and Alain Taïeb

    Version of Record online : 30 MAY 2007, DOI: 10.1111/j.1525-1470.2007.00403.x

  8. 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

  9. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

    American Journal of Medical Genetics

    Volume 94, Issue 2, 11 September 2000, Pages: 91–101, M.H. Breuning, A.P. Oranje, R.A.Th.M. Langemeijer, S.E.R. Hovius, A.F.M. Diepstraten, J.C. den Hollander, N. Baumgartner, J.R. Dwek, A. Sommer and H. Toriello

    Version of Record online : 7 SEP 2000, DOI: 10.1002/1096-8628(20000911)94:2<91::AID-AJMG1>3.0.CO;2-D

  10. FG syndrome in a Brazilian child with additional previously unreported signs

    American Journal of Medical Genetics

    Volume 25, Issue S2, 1986, Pages: 247–254, A. Richieri-Costa, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320250628

  11. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 321–323, Todd S. Zorick, Suzana Kleimann, A. Sertié, Mayana Zatz, Sérgio Rosenberg and Maria Rita Passos-Bueno

    Version of Record online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30009

  12. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1680–1685, Roseli Maria Zechi-Ceide, Melina Guerreiro Rodrigues, Fernanda Sarquis Jehee, Nancy Mizue Kokitsu-Nakata, Maria Rita Passos-Bueno and Maria Leine Guion-Almeida

    Version of Record online : 24 MAY 2012, DOI: 10.1002/ajmg.a.35367

  13. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2344–2349, Andrea do Rego Borges, Jamile Sá, Ryuichi Hoshi, Camila Sane Viena, Lorena C. Mariano, Patricia de Castro Veiga, Alena Peixoto Medrado, Renato Assis Machado, Sibele Nascimento de Aquino, Ana Camila Messetti, Richard A. Spritz, Ricardo D. Coletta and Silvia R. A. Reis

    Version of Record online : 22 JUL 2015, DOI: 10.1002/ajmg.a.37181

  14. Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family

    American Journal of Medical Genetics

    Volume 36, Issue 1, May 1990, Pages: 1–6, A. Richieri-Costa, E. de Miranda, T. Y. Kamiya and D. V. Freire-Maia

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320360102

  15. Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia

    American Journal of Medical Genetics

    Volume 41, Issue 3, 1 December 1991, Pages: 330–332, A. Richieri-Costa, M. L. Guion-Almeida and J. van den Ende

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320410314

  16. Measure and determinants of border effects of Brazilian states

    Papers in Regional Science

    Volume 89, Issue 4, November 2010, Pages: 735–758, Marie Daumal and Soledad Zignago

    Version of Record online : 3 NOV 2010, DOI: 10.1111/j.1435-5957.2009.00265.x

  17. You have free access to this content
    Hb Indianapolis [β112 (G14) Cys[RIGHTWARDS ARROW]Arg] as the probable cause of moderate hemolytic anemia and renal damage in a Brazilian patient

    American Journal of Hematology

    Volume 82, Issue 7, July 2007, Pages: 672–675, A. Fattori, E.M. Kimura, D.M. Albuquerque, D.M. Oliveira, F.F. Costa and M.F. Sonati

    Version of Record online : 8 JAN 2007, DOI: 10.1002/ajh.20860

  18. Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl-coenzyme-A thiolase

    Clinical Genetics

    Volume 41, Issue 4, April 1992, Pages: 202–205, Moacir Walner, Maria Tareza Sansavsrlno, Roberto Glugliani, Laurence Sweetman, Seljl Yamaguchl, Toshiyukl Fukao and Vivian E. Shlh

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1992.tb03663.x

  19. Subsoil retention of organic and inorganic nitrogen in a Brazilian savanna Oxisol

    Soil Use and Management

    Volume 20, Issue 2, June 2004, Pages: 163–172, J. Lehmann, J. Lilienfein, K. Rebel, S. do Carmo Lima and W. Wilcke

    Version of Record online : 18 JAN 2006, DOI: 10.1111/j.1475-2743.2004.tb00352.x

  20. Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

    American Journal of Medical Genetics

    Volume 44, Issue 2, 15 September 1992, Pages: 158–162, Antonio Richieri-Costa, Maria Leine Guion-Almeida, Dr. Newton Freire-Maia and Marta Pinheiro

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320440208