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There are 15639 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. Identification of four novel mutations in five unrelated Korean families with Fabry disease

    Clinical Genetics

    Volume 58, Issue 3, September 2000, Pages: 228–233, J-K Lee, G-H Kim, J-S Kim, K-K Kim, M-C Lee and H-W Yoo

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580311.x

  4. Intrachromosomal triplications: molecular cytogenetic and clinical studies

    Clinical Genetics

    Volume 58, Issue 2, August 2000, Pages: 134–141, Kavita S Reddy and James J Logan

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580208.x

  5. Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

    Clinical Genetics

    Volume 58, Issue 4, October 2000, Pages: 284–290, K Buiting, C Färber, P Kroisel, K Wagner, L Brueton, ME Robertson, C Lich and B Horsthemke

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580406.x

  6. 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

  7. 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

  8. Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility

    Clinical Genetics

    Volume 58, Issue 4, October 2000, Pages: 324–328, A Paoloni-Giacobino, I Kern1, Y Rumpler, R Djlelati, MA Morris and SP Dahoun

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580411.x

  9. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center

    Clinical Genetics

    Volume 58, Issue 4, October 2000, Pages: 299–308, CA Gilpin, N Carson and AGW Hunter

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580408.x

  10. United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease

    Clinical Genetics

    Volume 58, Issue 1, July 2000, Pages: 41–49, Cm Benjamin and A Lashwood

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580107.x

  11. Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)

    Clinical Genetics

    Volume 58, Issue 4, October 2000, Pages: 291–298, M-Q Xu, G Feldman1,, M Le Merrer, YY Shugart, DL Glaser, JA Urtizberea, M Fardeau, JM Connor, J Triffitt, R Smith, EM Shore and FS Kaplan

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580407.x

  12. Neuronal migration defects of the cerebral cortex: a destination debacle

    Clinical Genetics

    Volume 58, Issue 1, July 2000, Pages: 16–24, Brian F Uher and Jeffrey A Golden

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580103.x

  13. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family

    Clinical Genetics

    Volume 58, Issue 6, December 2000, Pages: 473–478, A Mégarbané, M Mustapha, J Bleik, N Waked, V Delague and J Loiselet

    Article first published online : 7 JUL 2008, DOI: 10.1034/j.1399-0004.2000.580608.x

  14. Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients

    Clinical Genetics

    Volume 58, Issue 5, November 2000, Pages: 396–402, N Bissar-Tadmouri, Y Parman, L Boutrand, F Deymeer, P Serdaroglu, A Vandenberghe and E Battaloglu

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580511.x

  15. A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory

    Clinical Genetics

    Volume 58, Issue 5, November 2000, Pages: 375–385, DE Comings, R Gade-Andavolu, N Gonzalez, S Wu, D Muhleman, H Blake, MB Mann, G Dietz, G Saucier and JP MacMurray

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580508.x

  16. Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

    Clinical Genetics

    Volume 58, Issue 5, November 2000, Pages: 390–395, C Prasad, BC Cramer, C Pushpanathan, MC Crowley and EJ Ives

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580510.x

  17. 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

  18. 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

  19. Molecular mechanisms controlling lung morphogenesis

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 14–27, Anne-Karina T Perl and Jeffrey A Whitsett

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560103.x

  20. 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