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There are 19429 results for: content related to: Exclusion of mutations in TGIF , ALX3 , and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

  1. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1676–1679, Maria Leine Guion-Almeida, Antonio Richieri-Costa, Fernanda Sarquis Jehee, Maria Rita Santos Passos-Bueno and Roseli Maria Zechi-Ceide

    Article first published online : 24 MAY 2012, DOI: 10.1002/ajmg.a.35351

  2. 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

    Article first published online : 22 OCT 2007, DOI: 10.1002/ajmg.a.31963

  3. Two cases further delineating the Sakoda complex

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 4, 15 February 2007, Pages: 370–376, Melissa A. Dempsey, Wilfredo Torres-Martinez and Laurence E. Walsh

    Article first published online : 26 JAN 2007, DOI: 10.1002/ajmg.a.31582

  4. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 1006–1011, Maria Leine Guion-Almeida and Antonio Richieri-Costa

    Article first published online : 13 APR 2009, DOI: 10.1002/ajmg.a.32717

  5. 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

    Article first published online : 5 NOV 2007, DOI: 10.1002/ajmg.a.32090

  6. Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

    American Journal of Medical Genetics

    Volume 115, Issue 4, 30 December 2002, Pages: 245–268, M. Michael Cohen Jr.

    Article first published online : 23 DEC 2002, DOI: 10.1002/ajmg.10982

  7. Atypical findings in three patients with Pai syndrome and literature review

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2899–2904, Damien Lederer, Brian Wilson, Pierre Lefesvre, Vincent Vander Poorten, Nigel Kirkham, Dipayan Mitra, Christine Verellen-Dumoulin and Koenraad Devriendt

    Article first published online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35592

  8. You have full text access to this OnlineOpen article
    Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene

    Evolution & Development

    Volume 13, Issue 4, July/August 2011, Pages: 343–351, Imelda M. McGonnell, Anthony Graham, Joanna Richardson, Jennifer L. Fish, Michael J. Depew, Chris T. Dee, Peter W.H. Holland and Tokiharu Takahashi

    Article first published online : 11 JUL 2011, DOI: 10.1111/j.1525-142X.2011.00489.x

  9. Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 519–520, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini Paulovich Pittoli and Antonio Richieri da Costa

    Article first published online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32588

  10. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: A third case report

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1825–1827, Myriam Chaabouni, Faouzi Maazoul, Amira Ben Hamida, Moncef Berhouma, Zahra Marrakchi and Habiba Chaabouni

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32349

  11. C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia

    Pediatrics International

    Volume 46, Issue 4, August 2004, Pages: 409–414, Ahmad Hamim Sadewa, Retno Sutomo, Mohamad Istiadjid, Kaoru Nishiyama, Taku Shirakawa and and Hisahide Nishio

    Article first published online : 2 AUG 2004, DOI: 10.1111/j.1442-200x.2004.01927.x

  12. Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: A new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 1, 15 February 2003, Pages: 72–75, P.C. Gupta, D. Peralta, M. Parker, C. Crowe, B. Clark and E.I. Traboulsi

    Article first published online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10154

  13. Trans-sphenoidal and sphenoethmoidal encephalocele: Report of two cases and review of the literature

    Australasian Radiology

    Volume 44, Issue 2, May 2000, Pages: 220–224, Korgün Koral, Mitchell E Geffner and John G Curran

    Article first published online : 24 DEC 2001, DOI: 10.1046/j.1440-1673.2000.00788.x

  14. Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1740–1748, Smita M. Purandare, Linda Ernst, Livija Medne, Dale Huff and Elaine H. Zackai

    Article first published online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32716

  15. Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma

    Genes, Chromosomes and Cancer

    Volume 33, Issue 3, March 2002, Pages: 285–294, Katharina Wimmer, Xiao-xiang Zhu, Jean Marie Rouillard, Peter F. Ambros, Barbara J. Lamb, Rork Kuick, Markus Eckart, Andreas Weinhäusl, Christa Fonatsch and Sam M. Hanash

    Article first published online : 1 FEB 2002, DOI: 10.1002/gcc.10030

  16. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 236–244, Hülya Kayserili, U. Altunoglu, H. Ozgur, S. Basaran and Z.O. Uyguner

    Article first published online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34390

  17. Prevalence of encephalocele in Texas, 1999–2002

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2150–2155, Shu Wen, Mary Ethen, Peter H. Langlois and Laura E. Mitchell

    Article first published online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31907

  18. Syndromes with cephaloceles

    Teratology

    Volume 25, Issue 2, April 1982, Pages: 161–172, Dr. M. Michael Cohen Jr. and Ronald J. Lemire

    Article first published online : 31 MAY 2005, DOI: 10.1002/tera.1420250206

  19. SUMOylation of DLX3 by SUMO1 promotes its transcriptional activity

    Journal of Cellular Biochemistry

    Volume 112, Issue 2, February 2011, Pages: 445–452, Olivier Duverger, Susie X. Chen, Delia Lee, Tianwei Li, P. Boon Chock and Maria I. Morasso

    Article first published online : 25 JAN 2011, DOI: 10.1002/jcb.22891

  20. You have free access to this content
    Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: A possible “new” autosomal recessive syndrome?

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2478–2481, Maria Leine Guion-Almeida and A. Richieri-Costa

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31518