Clinical Genetics

Cover image for Clinical Genetics

January 2008

Volume 73, Issue 1

Pages 1–101

  1. Reviews

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Genetic heterogeneity of autosomal dominant hypercholesterolemia (pages 1–13)

      M Varret, M Abifadel, J-P Rabès and C Boileau

      Version of Record online: 19 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00915.x

    2. Sex-linked deafness (pages 14–23)

      MB Petersen, Q Wang and PJ Willems

      Version of Record online: 14 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00913.x

  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Skeletal dysplasias and the growth plate (pages 24–30)

      BA Alman

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00933.x

  3. HotSpots

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. A life without pain? Hedonists take note (pages 31–33)

      FBJ Young

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00921.x

  4. Original Article

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes (pages 37–43)

      M-J Castro, B Nunes, B De Vries, C Lemos, KRJ Vanmolkot, JJMW Van Den Heuvel, T Temudo, J Barros, J Sequeiros, RR Frants, JB Koenderink, JM Pereira-Monteiro and AMJM Van Den Maagdenberg

      Version of Record online: 19 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00918.x

  5. Short Reports

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Array-based genotype–phenotype correlation in a case of supernumerary ring chromosome 12 (pages 44–49)

      J Davidsson, A Collin, M Öreberg and D Gisselsson

      Version of Record online: 14 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00917.x

    2. Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss (pages 50–54)

      V Labay, G Garrido, AC Madeo, WE Nance, TB Friedman, PL Friedman, I Del Castillo and AJ Griffith

      Version of Record online: 19 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00925.x

    3. Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERβ) gene ESR2 are associated with venous ulceration (pages 55–61)

      JJ Ashworth, JV Smyth, N Pendleton, M Horan, A Payton, J Worthington, WE Ollier and GS Ashcroft

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00927.x

    4. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome (pages 62–70)

      AL Schulz, B Albrecht, C Arici, I Van Der Burgt, A Buske, G Gillessen-Kaesbach, R Heller, D Horn, CA Hübner, GC Korenke, R König, W Kress, G Krüger, P Meinecke, J Mücke, B Plecko, E Rossier, A Schinzel, A Schulze, E Seemanova, H Seidel, S Spranger, B Tuysuz, S Uhrig, D Wieczorek, K Kutsche and M Zenker

      Version of Record online: 27 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00931.x

    5. Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population (pages 71–78)

      JE Kontaraki, FI Parthenakis, AP Patrianakos, IK Karalis and PE Vardas

      Version of Record online: 19 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00932.x

    6. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome (pages 79–84)

      T Eggermann, N Schönherr, K Eggermann, K Buiting, MB Ranke, HA Wollmann and G Binder

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00930.x

  6. Letters to the Editor

    1. Top of page
    2. Reviews
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Article
    6. Short Reports
    7. Letters to the Editor
    1. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene (pages 89–91)

      V Malan, MC De Blois, M Prieur, MC Perrier-Waill, C Huguet-Nedjar, L Gegas, C Turleau, M Vekemans, A Munnich and SP Romana

      Version of Record online: 27 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00916.x

    2. Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia (pages 92–93)

      IC Avila-Gomez, G Latorre-Sierra, JC Restrepo-Gutierrez, G Correa-Arango, M Jimenez-Del-Rio and C Velez-Pardo

      Version of Record online: 14 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00919.x

    3. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism (pages 94–96)

      SS Bhat, S Ladd, F Grass, JE Spence, CK Brasington, RJ Simensen, CE Schwartz, BR DuPont, RE Stevenson and AK Srivastava

      Version of Record online: 15 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00920.x

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