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There are 44749 results for: content related to: Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

  1. Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 149–157, Antonio Richieri-Costa and Lucilene Arilho Ribeiro

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30247

  2. Single median maxillary central incisor: New data and mutation review

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 79, Issue 8, August 2007, Pages: 573–580, Kênia B. El-Jaick, Renata F. Fonseca, Miguel A. Moreira, Márcia G. Ribeiro, Ana M. Bolognese, Sânia O. Dias, Eliane T. Pereira, Eduardo E. Castilla and Iêda M. Orioli

    Version of Record online : 21 JUN 2007, DOI: 10.1002/bdra.20380

  3. Holoprosencephaly-like phenotype: Clinical and genetic perspectives

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2587–2593, A. Richieri-Costa and Lucilene Arilho Ribeiro

    Version of Record online : 25 SEP 2006, DOI: 10.1002/ajmg.a.31378

  4. Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2886–2888, Carla Graziadio, Rafael F.M. Rosa, Paulo R.G. Zen, José A.M. Flores and Giorgio A. Paskulin

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33109

  5. Laryngeal malformation in Richieri-Costa Pereira syndrome: New findings

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1967–1970, Haline Coracine Miguel, Christiano Giácomo Carneiro, Alfredo Tabith Jr., Roseli Maria Zechi-Ceide and Katia Flores Genaro

    Version of Record online : 18 JUN 2012, DOI: 10.1002/ajmg.a.35421

  6. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 11, November 2012, Pages: 912–917, Lucilene A. Ribeiro, Erich Roessler, Ping Hu, Daniel E. Pineda-Alvarez, Nan Zhou, MaryPat Jones, Settara Chandrasekharappa, Antonio Richieri-Costa and Maximilian Muenke

    Version of Record online : 27 JUL 2012, DOI: 10.1002/bdra.23047

  7. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 56–58, R.L.L. Ferreira de Lima, D. Moretti-Ferreira, A. Richieri-Costa and J.C. Murray

    Version of Record online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20270

  8. Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2594–2597, A. Richieri-Costa and Lucilene Arilho Ribeiro

    Version of Record online : 25 SEP 2006, DOI: 10.1002/ajmg.a.31379

  9. The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant

    American Journal of Medical Genetics

    Volume 87, Issue 5, 22 December 1999, Pages: 430–433, Elisabeth Walter-Nicolet, Anne Coëslier, Sylvie Joriot, Nadine Kacet, Alexandre Moerman and Sylvie Manouvrier-Hanu

    Version of Record online : 10 DEC 1999, DOI: 10.1002/(SICI)1096-8628(19991222)87:5<430::AID-AJMG11>3.0.CO;2-9

  10. Bifurcation of the femur with tibial agenesis and additional anomalies

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 45–50, J.M. van de Kamp, J.J. van der Smagt, C.F.A. Bos, A. van Haeringen, P.C.W. Hogendoorn and M.H. Breuning

    Version of Record online : 12 AUG 2005, DOI: 10.1002/ajmg.a.30918

  11. Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3252–3266, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide and Antonio Richieri-Costa

    Version of Record online : 5 NOV 2007, DOI: 10.1002/ajmg.a.32090

  12. Holoprosencephaly: An update on cytogenetic abnormalities

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 86–92, Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg and Véronique David

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30250

  13. The molecular genetics of holoprosencephaly

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 52–61, Erich Roessler and Maximilian Muenke

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30236

  14. Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: Description of two new patients

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 133–138, Alfredo Tabith Jr and Cristina Guedes de Azevedo Bento-Gonçalves

    Version of Record online : 29 JUL 2003, DOI: 10.1002/ajmg.a.10227

  15. Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis

    American Journal of Medical Genetics

    Volume 47, Issue 5, 1 October 1993, Pages: 660–678, John M. Opitz, Florindo Mollica, Giovanni Sorge, Gabriella Milana, Gabriella Cimino and Mario Caltabiano

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320470517

  16. EEC syndrome: Report on 20 new patients, clinical and genetic considerations

    American Journal of Medical Genetics

    Volume 37, Issue 1, September 1990, Pages: 42–53, Elaine S. O. Rodini and A. Richieri-Costa

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.1320370112

  17. SIX3 mutations with holoprosencephaly

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2577–2583, Lucilene Arilho Ribeiro, Kenia B. El-Jaick, Maximilian Muenke and Antonio Richieri-Costa

    Version of Record online : 25 SEP 2006, DOI: 10.1002/ajmg.a.31377

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    Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2142–2145, Melissa Z. Antoneli, Sthella Zanchetta, Neivo L. Zorzetto, Lucilene A. Ribeiro and Antonio Richieri-Costa

    Version of Record online : 22 MAY 2006, DOI: 10.1002/ajmg.a.31296

  19. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3069–3078, E. Wu, K. Vargevik and A.M. Slavotinek

    Version of Record online : 22 OCT 2007, DOI: 10.1002/ajmg.a.31963

  20. 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