Search Results

There are 5858 results for: content related to: Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis

  1. The VACTERL association: lessons from the Sonic hedgehog pathway

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 306–315, JH Kim, PCW Kim and C-C Hui

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590503.x

  2. Hedgehog signaling and congenital malformations

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 193–208, E Nieuwenhuis and C-c Hui

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00360.x

  3. An overview of isolated and syndromic oesophageal atresia

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 392–399, D Geneviève, L De Pontual, J Amiel, S Sarnacki and S Lyonnet

    Article first published online : 2 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00798.x

  4. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 429–433, H Fujioka, T Ariga, K Horiuchi, M Otsu, H Igawa, K Kawashima, Y Yamamoto, T Sugihara and Y Sakiyama

    Article first published online : 10 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00431.x

  5. Clinical geneticists' views of VACTERL/VATER association

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3087–3100, Benjamin D. Solomon, Kelly A. Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw-Smith, Dick Tibboel, Heiko Reutter and Philip F. Giampietro

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35638

  6. Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

    Clinical Genetics

    Volume 68, Issue 4, October 2005, Pages: 320–326, LG Biesecker

    Article first published online : 2 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00509.x

  7. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

    Clinical Genetics

    Volume 82, Issue 5, November 2012, Pages: 502–504, MM Al-Qattan

    Article first published online : 20 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01866.x

  8. Sonic hedgehog mutation analysis in patients with VACTERL association

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 781–783, Mónica Aguinaga, Juan Carlos Zenteno, Héctor Pérez-Cano and Verónica Morán

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33293

  9. The developmental program of the hypothalamus and its disorders

    Clinical Genetics

    Volume 60, Issue 4, October 2001, Pages: 255–263, JL Michaud

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600402.x

  10. Transcription factors in dysmorphology

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 137–143, Didier Lacombe

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550301.x

  11. The hedgehog signaling network

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 1, November 15, 2003, Pages: 5–28, M. Michael Cohen, Jr.

    Article first published online : 19 SEP 2003, DOI: 10.1002/ajmg.a.20495

  12. X-linked mental retardation: further lumping, splitting and emerging phenotypes

    Clinical Genetics

    Volume 67, Issue 6, June 2005, Pages: 451–467, T Kleefstra and BCJ Hamel

    Article first published online : 31 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00434.x

  13. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x

  14. Landmarks in genetics through philately: the tools used by dysmorphologists

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 105–108, AE Chudley

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00030.x

  15. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 99–105, H Schmidt, G Rudolph, M Hergersberg, K Schneider, S Moradi and T Meitinger*

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590206.x

  16. The long and the short of it: developmental genetics of the skeletal dysplasias

    Clinical Genetics

    Volume 57, Issue s1, April 1999, Pages: 50–59, Sandra D Dreyer, Guang Zhou and Brendan Lee

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.57si05.x

  17. The developing limb and the control of the number of digits

    Clinical Genetics

    Volume 67, Issue 2, February 2005, Pages: 143–153, A Talamillo, Mf Bastida, M Fernandez-Teran and Ma Ros

    Article first published online : 28 JAN 2005, DOI: 10.1111/j.1399-0004.2005.00404.x

  18. The modular nature of genetic diseases

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 1–11, M Oti and HG Brunner

    Article first published online : 17 OCT 2006, DOI: 10.1111/j.1399-0004.2006.00708.x

  19. Split Hand Foot Malformation (SHFM)

    Clinical Genetics

    Volume 68, Issue 6, December 2005, Pages: 501–505, AM Elliott, JA Evans and AE Chudley

    Article first published online : 18 OCT 2005, DOI: 10.1111/j.1399-0004.2005.00530.x

  20. Analysis of component findings in 79 patients diagnosed with VACTERL association

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2236–2244, Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Manu S. Raam, Sophia M. Bous, Amelia A. Keaton, Jorge I. Vélez and Derek A.T. Cummings

    Article first published online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33572