Clinical Genetics

Cover image for Clinical Genetics

November 2001

Volume 60, Issue 5

Pages 323–398

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Goals of genetic counseling (pages 323–330)

      BB Biesecker

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600501.x

  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
  3. Original Article

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype (pages 336–344)

      P Stankiewicz, S-S Park, SE Holder, CS Waters, RW Palmer, SA Berend, LG Shaffer, L Potocki and JR Lupski

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600503.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAFI) with blood pressure (pages 345–349)

      ML Koschinsky, MB Boffa, ME Nesheim, B Zinman, AJG Hanley, SB Harris, H Cao and RA Hegele

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600504.x

    2. Evaluation for sleep apnea in patients with Ehlers–Danlos syndrome and Marfan: a questionnaire study (pages 360–365)

      J Verbraecken, A Declerck, P Van de Heyning, W De Backer and EFM Wouters

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600507.x

    3. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review (pages 366–370)

      KA Rauen, SM Bitts, L Li, M Golabi and PD Cotter

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600508.x

    4. Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype (pages 371–373)

      JR Batanian, K Morris, E Ma, Y Huang and J McComb

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600509.x

    5. Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis (pages 381–384)

      SD Avakian, JM Annicchino-Bizzacchi, M Grinberg, JAF Ramires and AP Mansur

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600511.x

    6. PCR–PRINS–FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype (pages 385–392)

      A Cervantes, R Guevara-Yáñez, M López, N Monroy, M Aguinaga, H Valdez, C Sierra, S Canún, J Guízar, C Navarrete, G Zafra, F Salamanca and S Kofman-Alfaro

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600512.x

  5. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Segmental uniparental disomy of 7q31-qter is rare in Silver–Russell syndrome (pages 395–396)

      T Eggermann, S Mergenthaler, K Eggermann, MB Ranke and HA Wollmann

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600514.x

    2. ‘The VACTERL association: lessons from the Sonic hedgehog pathway’ (page 397)

      ML Martínez-Frías, E Bermejo and JL Frías

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600515.x

    3. A Reply (page 398)

      JH Kim, PCW Kim and CC Hui

      Article first published online: 11 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.600516.x

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