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There are 14020 results for: content related to: Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder

  1. Distal limb malformations: underlying mechanisms and clinical associations

    Clinical Genetics

    Volume 60, Issue 3, September 2001, Pages: 165–172, S Sifakis, D Basel, P Ianakiev, MW Kilpatrick and P Tsipouras

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600301.x

  2. When p63 goes awry: SAM domain mutations

    Clinical Genetics

    Volume 60, Issue 1, July 2001, Pages: 11–12, Susan E Andrew

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.600102.3.x

  3. Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

    Clinical Genetics

    Volume 65, Issue 3, March 2004, Pages: 163–176, TC Cox

    Article first published online : 30 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00225.x

  4. New insights in congenital bowing of the femora

    Clinical Genetics

    Volume 66, Issue 3, September 2004, Pages: 169–176, V Cormier-Daire, D Geneviève, A Munnich and M Le Merrer

    Article first published online : 20 AUG 2004, DOI: 10.1111/j.0009-9163.2004.00307.x

  5. Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

    Clinical Genetics

    Volume 66, Issue 3, September 2004, Pages: 189–207, B Stasiewicz-Jarocka, O Haus, E Van Assche, E Kostyk, M Constantinou, A Rybałko, B Krzykwa, A Marcinkowska, I Barisič, V Kučinskas, B Katużewski, G Schwanitz and AT Midro

    Article first published online : 20 AUG 2004, DOI: 10.1111/j.0009-9163.2004.00297.x

  6. 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

  7. 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

  8. 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

  9. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery

    Clinical Genetics

    Volume 66, Issue 2, August 2004, Pages: 94–106, M Tadin-Strapps, D Warburton, JC Salas-Alanis, LD Lopez-Cepeda and AM Christiano

    Article first published online : 14 JUL 2004, DOI: 10.1111/j.0009-9163.2004.00301.x

  10. Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in SBDS

    Clinical Genetics

    Volume 65, Issue 2, February 2004, Pages: 101–112, O Mäkitie, L Ellis, PR Durie, JA Morrison, EB Sochett, JM Rommens and WG Cole

    Article first published online : 29 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00198.x

  11. Effective long-term control of cardiac events with β-blockers in a family with a common LQT1 mutation

    Clinical Genetics

    Volume 65, Issue 3, March 2004, Pages: 233–241, H Wedekind, M Schwarz, S Hauenschild, H Djonlagic, W Haverkamp, G Breithardt, T Wülfing, O Pongs, D Isbrandt and E Schulze-Bahr

    Article first published online : 30 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00221.x

  12. Interpupillary distance in a normal black population

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 182–191, EK Pivnick, ML Rivas, EA Tolley, SD Smith and GJ Presbury

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550306.x

  13. Partial DiGeorge syndrome in two patients with a 10p rearrangement

    Clinical Genetics

    Volume 55, Issue 4, April 1999, Pages: 269–276, Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven and Koen Devriendt

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550410.x

  14. A new classification system for primary lymphatic dysplasias based on phenotype

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 438–452, F Connell, G Brice, S Jeffery, V Keeley, P Mortimer and S Mansour

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01394.x

  15. Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

    Clinical Genetics

    Volume 59, Issue 1, January 2001, Pages: 28–36, D Tackels-Horne, A Toburen, E Sangiorgi, F Gurrieri, X De Mollerat, R Fischetto, F Causio, K Clarkson, Re Stevenson and Ce Schwartz

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590105.x

  16. 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history

    Clinical Genetics

    Volume 55, Issue 6, June 1999, Pages: 398–415, Victor A McKusick, Juergen Naggert, Patsy Nishina and David Valle

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550603.x

  17. Prader–Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization

    Clinical Genetics

    Volume 65, Issue 6, June 2004, Pages: 477–482, OD Klein, PD Cotter, DG Albertson, D Pinkel, WE Tidyman, MW Moore and KA Rauen

    Article first published online : 18 MAY 2004, DOI: 10.1111/j.0009-9163.2004.00261.x

  18. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

    Clinical Genetics

    Volume 66, Issue 1, July 2004, Pages: 67–72, NV Whittock, S Ellard, J Duncan, CEM De Die-Smulders, JSH Vles and PD Turnpenny

    Article first published online : 5 MAY 2004, DOI: 10.1111/j.0009-9163.2004.00272.x

  19. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1

    Clinical Genetics

    Volume 65, Issue 2, February 2004, Pages: 153–155, Ph Debeer

    Article first published online : 29 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00202.x

  20. A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome

    Clinical Genetics

    Volume 60, Issue 4, October 2001, Pages: 314–315, Rika Kosaki, Hirofumi Ohashi, Hiroshi Yoshihashi, Taichi Suzuki and Kenjiro Kosaki

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600411.x